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 hypersensitivity disease; allergic reaction; allergic reactions; allergies; allergy; hypersensitivities; hypersensitivity; hypersensitivity reaction type I disease |
| related_synonym: | eye allergy |
| primary_id: | MESH:D006967 |
| xref: | EFO:0003785; EFO:0005751; ICD10CM:T78.40; MONDO:0005271; 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 chr20:2,802,519...2,815,433
Ensembl chr20:2,802,488...2,815,433
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Ace |
angiotensin I converting enzyme |
susceptibility |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:10200023 |
RGD:8142344 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Agt |
angiotensinogen |
susceptibility |
ISO |
DNA:polymorphism: :p.M235T (human) |
RGD |
PMID:10200023 |
RGD:8142344 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Akr1b1 |
aldo-keto reductase family 1 member B1 |
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IDA |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:16979157 |
RGD:1626088 |
NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
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Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8431628 |
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NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Arhgap28 |
Rho GTPase activating protein 28 |
susceptibility |
ISO |
associated with acute lymphoblastic leukemia;DNA:SNP::rs9958628(human) |
RGD |
PMID:33768542 |
RGD:407431649 |
NCBI chr 9:107,832,584...107,998,030
Ensembl chr 9:107,833,330...107,998,000
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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 8:89,716,914...89,724,998
Ensembl chr 8:89,716,914...89,724,998
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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 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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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 chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Ccl12 |
C-C motif chemokine ligand 12 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr10:67,070,230...67,071,780
Ensembl chr10:67,070,230...67,071,780
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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 chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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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 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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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 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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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 chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893
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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 chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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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 chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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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 chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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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 8:123,556,286...123,561,841
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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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NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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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 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
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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 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969
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Cd14 |
CD14 molecule |
resistance |
ISO |
DNA:polymorphism:promoter:c. -159C>T (human) |
RGD |
PMID:19222419 |
RGD:4144798 |
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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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 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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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:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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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 4:156,214,030...156,224,818
Ensembl chr 4:156,214,718...156,224,817
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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 chr14:96,880,463...96,984,494
Ensembl chr14:96,880,463...96,984,501
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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 chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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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 chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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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 chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
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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 chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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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 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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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:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cysltr1 |
cysteinyl leukotriene receptor 1 |
severity |
ISO |
DNA:SNP: :927T>C (human) |
RGD |
PMID:16776674 |
RGD:4782072 |
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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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 chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443
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Fcgr3a |
Fc gamma receptor 3A |
treatment |
ISO |
associated with Purpura, Thrombocytopenic, Idiopathic |
RGD |
PMID:22025730 |
RGD:11352264 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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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:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
DNA:deletion: : |
RGD |
PMID:16580705 |
RGD:5490996 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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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 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Hp |
haptoglobin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321 |
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NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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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 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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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 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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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 RGD |
PMID:21625544 PMID:11588017 |
RGD:4765128 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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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 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
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Il17a |
interleukin 17A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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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 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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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 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
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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 9:42,384,280...42,424,726
Ensembl chr 9:42,384,433...42,424,725
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Il2 |
interleukin 2 |
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ISO |
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RGD |
PMID:21509781 |
RGD:5147912 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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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 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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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 chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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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 4:139,630,652...139,664,593
Ensembl chr 4:139,632,066...139,668,544
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Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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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 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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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 chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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Kng1 |
kininogen 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11160071 |
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NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555
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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 chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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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 chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293
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Mif |
macrophage migration inhibitory factor |
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ISO |
DNA:polymorphisms:promoter: |
RGD |
PMID:14962818 |
RGD:4891046 |
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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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 chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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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 chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
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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 chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130
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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 RGD |
PMID:8725357 PMID:15853900 PMID:10202362 PMID:16112029 |
RGD:5147651, RGD:5147866, RGD:5147826 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms (human) |
CTD RGD |
PMID:8725357 PMID:20684489 PMID:10202362 PMID:16112029 PMID:10689122 PMID:15853900 More...
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RGD:5147606, RGD:5147866, RGD:5147826, RGD:5147814, RGD:5147651 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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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 chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
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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 RGD |
PMID:8725357 PMID:15853900 PMID:16112029 PMID:10689122 |
RGD:5147651, RGD:5147826, RGD:5147814 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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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 chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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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 chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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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 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
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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 chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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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 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16095146 PMID:21625544 |
|
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
|
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
|
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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G |
Ccl26 |
C-C motif chemokine ligand 26 |
treatment |
ISO |
|
RGD |
PMID:25530546 |
RGD:11081163 |
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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G |
Cysltr1 |
cysteinyl leukotriene receptor 1 |
treatment |
ISO |
|
RGD |
PMID:23933317 |
RGD:40903070 |
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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G |
Epx |
eosinophil peroxidase |
|
ISO |
protein:increased expression:urine: |
RGD |
PMID:11846868 |
RGD:13506893 |
NCBI chr10:72,666,865...72,677,952
Ensembl chr10:72,666,865...72,677,952
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G |
Il25 |
interleukin 25 |
treatment |
ISO |
|
RGD |
PMID:17889290 |
RGD:40902975 |
NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893
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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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-Ha |
RT1 class II, locus Ha |
susceptibility |
ISO |
DNA:polymorphism: |
RGD |
PMID:28380482 |
RGD:13506910 |
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
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G |
RT1-Hb-ps1 |
RT1 class II, locus Hb, pseudogene 1 |
susceptibility |
ISO |
DNA:polymorphism: |
RGD |
PMID:28380482 |
RGD:13506910 |
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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G |
Trem1 |
triggering receptor expressed on myeloid cells 1 |
exacerbates |
ISO |
|
RGD |
PMID:21592044 PMID:21592044 |
RGD:126928124, RGD:126928124 |
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
|
ISO |
associated with Cystic Fibrosis |
RGD |
PMID:17898016 |
RGD:4145612 |
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
|
ISO |
|
RGD |
PMID:15951834 |
RGD:5688155 |
NCBI chr 8:123,556,286...123,561,841
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
|
RGD |
PMID:10946288 |
RGD:8661731 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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G |
Cftr |
CF transmembrane conductance regulator |
|
ISO |
DNA:mutations: : |
RGD |
PMID:11243954 |
RGD:4140482 |
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
|
RGD |
PMID:7743671 |
RGD:8547590 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
|
RGD |
PMID:8699818 |
RGD:7794730 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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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 1:228,016,439...228,024,736
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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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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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 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Tnf |
tumor necrosis factor |
|
ISO |
|
RGD |
PMID:8699818 |
RGD:7794730 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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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 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
|
IEP |
mRNA:increased expression:conjunctiva |
RGD |
PMID:12682842 |
RGD:2307196 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
|
RGD |
PMID:19553621 |
RGD:8548840 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
IEP |
mRNA:increased expression:conjunctiva |
RGD |
PMID:12682842 |
RGD:2307196 |
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
|
ISO |
protein:increased expression:conjunctiva |
RGD |
PMID:11090473 |
RGD:6483824 |
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
|
RGD |
PMID:18658092 |
RGD:6893389 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
|
RGD |
PMID:8766745 |
RGD:8547686 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Ifng |
interferon gamma |
|
IDA ISO |
|
RGD |
PMID:12234900 PMID:16123425 |
RGD:8142386, RGD:8142391 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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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 chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il1b |
interleukin 1 beta |
treatment |
ISO |
|
RGD |
PMID:9326725 |
RGD:7401198 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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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 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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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 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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G |
Irf1 |
interferon regulatory factor 1 |
|
IEP |
|
RGD |
PMID:14605445 |
RGD:5128787 |
NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
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G |
Lck |
LCK proto-oncogene, Src family tyrosine kinase |
|
IDA |
protein:increased phosphorylation:T cell |
RGD |
PMID:14507881 |
RGD:1600225 |
NCBI chr 5:141,888,318...141,916,945
Ensembl chr 5:141,888,326...141,903,794
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G |
Muc1 |
mucin 1, cell surface associated |
severity |
ISO |
|
RGD |
PMID:17177679 |
RGD:7349351 |
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
severity |
ISO |
|
RGD |
PMID:17177679 |
RGD:7349351 |
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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G |
Muc4 |
mucin 4, cell surface associated |
severity |
ISO |
|
RGD |
PMID:17177679 PMID:11581187 |
RGD:7349351, RGD:7349400 |
NCBI chr11:68,008,245...68,053,242
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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 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
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G |
Tgfb1 |
transforming growth factor, beta 1 |
treatment |
ISO |
|
RGD |
PMID:16914468 |
RGD:11041889 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
associated with Staphylococcal Infections; |
RGD |
PMID:19358332 |
RGD:8552826 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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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 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
mRNA,protein:decreased expression:conjunctiva: |
RGD |
PMID:16023216 |
RGD:7794849 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Tnc |
tenascin C |
|
ISO |
DNA:SNPs: :multiple (human) |
RGD |
PMID:18305139 |
RGD:4889589 |
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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G |
Abca6 |
ATP binding cassette subfamily A member 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr10:95,142,805...95,212,087
Ensembl chr10:95,142,966...95,211,530
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G |
Asrgl1 |
asparaginase and isoaspartyl peptidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 1:206,006,103...206,027,115
Ensembl chr 1:206,006,109...206,027,108
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G |
Bcl2 |
BCL2, apoptosis regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Bmp6 |
bone morphogenetic protein 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
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G |
Calcrl |
calcitonin receptor like receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 3:69,428,348...69,525,910
Ensembl chr 3:69,430,120...69,525,910
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G |
Casp8 |
caspase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
|
ISO |
|
RGD |
PMID:15491423 |
RGD:1626251 |
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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G |
Ccl19 |
C-C motif chemokine ligand 19 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
|
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
protein:increased expression:ear (mouse) |
RGD |
PMID:15491423 |
RGD:1626251 |
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
|
ISO |
|
RGD |
PMID:18844696 |
RGD:5688176 |
NCBI chr 8:123,556,286...123,561,841
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17374397 PMID:10899907 |
RGD:8661227 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
|
RGD |
PMID:22075493 |
RGD:6892916 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
|
IEP |
mRNA:increased expression:skin, lymph node (rat) |
RGD |
PMID:16977379 |
RGD:2325935 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Cd36 |
CD36 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G |
Cd3d |
CD3 delta subunit of T-cell receptor complex |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
|
NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
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G |
Cidec |
cell death-inducing DFFA-like effector c |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
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G |
Cish |
cytokine inducible SH2-containing protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 8:107,972,306...107,977,254
Ensembl chr 8:107,972,306...107,977,250
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G |
Cntn3 |
contactin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
|
NCBI chr 4:134,841,268...135,214,460
Ensembl chr 4:134,842,266...135,125,613
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G |
Crem |
cAMP responsive element modulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr17:54,238,889...54,305,989
Ensembl chr17:54,239,030...54,305,989
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G |
Ctsc |
cathepsin C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387
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G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23178550 |
|
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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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 |
|
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Emb |
embigin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 2:49,070,509...49,125,042
Ensembl chr 2:49,069,087...49,125,050
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G |
Ets2 |
ETS proto-oncogene 2, transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr11:35,021,536...35,038,322
Ensembl chr11:35,021,596...35,038,319
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G |
F13a1 |
coagulation factor XIII A1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
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G |
Fgl2 |
fibrinogen-like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 4:13,710,566...13,716,207
Ensembl chr 4:13,710,575...13,716,207
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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
|
ISO |
mRNA:protein:skin: |
RGD |
PMID:7876550 |
RGD:7421586 |
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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G |
Fyb1 |
FYN binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 2:55,621,585...55,781,206
Ensembl chr 2:55,632,698...55,779,629
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G |
Grk2 |
G protein-coupled receptor kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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G |
Hsd11b1 |
hydroxysteroid 11-beta dehydrogenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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G |
Ifi30 |
IFI30, lysosomal thiol reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
|
NCBI chr16:18,675,590...18,679,655
Ensembl chr16:18,675,613...18,681,175
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|
G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11312644 PMID:12484431 PMID:15347381 |
|
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Igsf6 |
immunoglobulin superfamily, member 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 1:175,610,167...175,620,662
Ensembl chr 1:175,610,167...175,620,722
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|
G |
Il10 |
interleukin 10 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15347381 PMID:23760007 |
RGD:7364806 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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|
G |
Il18 |
interleukin 18 |
treatment |
ISO |
mRNA:increased expression:skin CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27585668 PMID:9781803 PMID:12874202 |
RGD:8655902, RGD:8655940 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il18bp |
interleukin 18 binding protein |
treatment |
ISO |
|
RGD |
PMID:12874202 |
RGD:8655940 |
NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23178550 |
|
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il2 |
interleukin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11312644 PMID:22245253 |
|
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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|
G |
Il2ra |
interleukin 2 receptor subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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G |
Il4 |
interleukin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12484431 PMID:21804303 |
|
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il5 |
interleukin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15347381 |
|
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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G |
Ipcef1 |
interaction protein for cytohesin exchange factors 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 1:43,237,903...43,451,735
Ensembl chr 1:43,269,202...43,427,969
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G |
Itgam |
integrin subunit alpha M |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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G |
Jam2 |
junctional adhesion molecule 2 |
|
ISO |
|
RGD |
PMID:16297198 |
RGD:7488919 |
NCBI chr11:23,830,820...23,880,071
Ensembl chr11:23,831,106...23,880,063
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G |
Jam3 |
junctional adhesion molecule 3 |
|
ISO |
|
RGD |
PMID:16297198 |
RGD:7488919 |
NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355
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G |
Kdr |
kinase insert domain receptor |
|
ISO |
mRNA:protein:skin: |
RGD |
PMID:7876550 |
RGD:7421586 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Kmo |
kynurenine 3-monooxygenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr13:87,557,080...87,589,334
Ensembl chr13:87,557,286...87,588,881
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G |
Mc1r |
melanocortin 1 receptor |
|
ISO |
|
RGD |
PMID:20126537 |
RGD:5687319 |
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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|
G |
Meox1 |
mesenchyme homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr10:86,818,450...86,837,563
Ensembl chr10:86,818,478...86,837,660
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G |
Mir155 |
microRNA 155 |
treatment |
IEP |
|
RGD |
PMID:29404871 |
RGD:21079472 |
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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|
G |
Mir21 |
microRNA 21 |
treatment |
IEP |
|
RGD |
PMID:29282578 |
RGD:41404666 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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|
G |
Mki67 |
marker of proliferation Ki-67 |
|
ISO |
|
RGD |
PMID:21294775 |
RGD:6483538 |
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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|
G |
Mmp3 |
matrix metallopeptidase 3 |
|
IEP ISO |
mRNA:increased expression:skin, lymph node |
RGD |
PMID:16977379 PMID:10359808 |
RGD:2325935, RGD:8693317 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mrc1 |
mannose receptor, C type 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857
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G |
Mxd1 |
max dimerization protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 4:119,097,353...119,118,080
Ensembl chr 4:119,097,353...119,117,751
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|
G |
Nampt |
nicotinamide phosphoribosyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
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|
G |
Nat1 |
N-acetyltransferase 1 |
susceptibility |
ISO |
DNA:polymorphism: : |
RGD |
PMID:19663877 |
RGD:8552666 |
NCBI chr16:22,218,217...22,238,516
Ensembl chr16:22,208,194...22,238,520
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|
G |
Nat2 |
N-acetyltransferase 2 |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:16533241 |
RGD:8552663 |
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23564646 |
|
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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G |
Ninj1 |
ninjurin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr17:15,452,804...15,461,684
Ensembl chr17:15,452,813...15,461,704
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G |
Numa1 |
nuclear mitotic apparatus protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855
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|
G |
Ogg1 |
8-oxoguanine DNA glycosylase |
|
ISO |
|
RGD |
PMID:15677345 |
RGD:8657146 |
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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|
G |
Phlda1 |
pleckstrin homology-like domain, family A, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 7:46,967,433...46,969,637
Ensembl chr 7:46,967,409...46,969,861
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|
G |
Pim1 |
Pim-1 proto-oncogene, serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr20:7,554,921...7,559,174
Ensembl chr20:7,554,921...7,559,174
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|
G |
Plat |
plasminogen activator, tissue type |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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|
G |
Prdx4 |
peroxiredoxin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr X:40,026,762...40,044,066
Ensembl chr X:40,026,651...40,044,066
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|
G |
Qpct |
glutaminyl-peptide cyclotransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 6:15,964,656...15,996,730
Ensembl chr 6:15,964,657...15,996,711
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|
G |
Rab32 |
RAB32, member RAS oncogene family |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934
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|
G |
Rgs1 |
regulator of G-protein signaling 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr13:56,018,546...56,022,889
Ensembl chr13:56,018,554...56,022,984
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|
G |
Sat1 |
spermidine/spermine N1-acetyl transferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr X:40,158,354...40,161,641
Ensembl chr X:40,157,046...40,196,813
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G |
Sele |
selectin E |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
|
NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
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|
G |
Slc2a3 |
solute carrier family 2 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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|
G |
Slc7a5 |
solute carrier family 7 member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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|
G |
Socs1 |
suppressor of cytokine signaling 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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G |
Socs2 |
suppressor of cytokine signaling 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 7:30,006,360...30,045,161
Ensembl chr 7:30,008,578...30,043,548
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|
G |
Spp1 |
secreted phosphoprotein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14555839 |
|
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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|
G |
St6gal1 |
ST6 beta-galactoside alpha-2,6-sialyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr11:77,526,837...77,653,474
Ensembl chr11:77,526,837...77,653,310
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|
G |
Stac |
SH3 and cysteine rich domain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 8:111,530,800...111,653,228
Ensembl chr 8:111,530,800...111,654,008
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|
G |
Tap2 |
transporter 2, ATP binding cassette subfamily B member |
susceptibility |
ISO |
|
RGD |
PMID:9303338 |
RGD:6482276 |
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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|
G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
|
RGD |
PMID:20711192 PMID:18725520 |
RGD:7777133, RGD:7794737 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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|
G |
Tlr7 |
toll-like receptor 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
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G |
Tmsb10 |
thymosin, beta 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
|
NCBI chr 4:105,009,959...105,011,095
Ensembl chr 4:105,009,212...105,011,028
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|
G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15849067 |
|
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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|
G |
Tnfaip6 |
TNF alpha induced protein 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 PMID:17374397 |
|
NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
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G |
Tslp |
thymic stromal lymphopoietin |
treatment |
ISO |
|
RGD |
PMID:30187507 |
RGD:38596345 |
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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G |
Upp1 |
uridine phosphorylase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr14:83,809,495...83,829,299
Ensembl chr14:83,809,960...83,829,462
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G |
Vegfa |
vascular endothelial growth factor A |
|
IEP ISO |
mRNA:protein:skin: |
RGD |
PMID:7876550 PMID:7876550 |
RGD:7421586, RGD:7421586 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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|
|
G |
Csf3 |
colony stimulating factor 3 |
treatment |
ISO |
associated with Severe Congenital Neutropenia; |
RGD |
PMID:20100783 |
RGD:11039037 |
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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|
|
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 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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|
G |
Ace |
angiotensin I converting enzyme |
no_association |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:15112973 |
RGD:8142345 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Bcl2 |
BCL2, apoptosis regulator |
|
IEP |
mRNA, protein:increased expression:nasal mucosa (rat) |
RGD |
PMID:15362690 |
RGD:11522724 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Cat |
catalase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29028686 |
|
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
treatment |
IDA |
|
RGD |
PMID:23089405 |
RGD:7248414 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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G |
Ccl26 |
C-C motif chemokine ligand 26 |
|
ISO |
protein:increased expression:oronasal secretion (human) |
RGD |
PMID:23883806 |
RGD:7364793 |
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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G |
Cd40 |
CD40 molecule |
|
ISO |
protein:increased expression:lymphocyte |
RGD |
PMID:19086656 |
RGD:8547782 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
|
ISO |
protein:increased expression:lymphocyte |
RGD |
PMID:19086656 |
RGD:8547782 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Cldn3 |
claudin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33441633 |
|
NCBI chr12:21,708,538...21,710,010
Ensembl chr12:21,708,398...21,711,001
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G |
Cldn7 |
claudin 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33441633 |
|
NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171
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|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
treatment |
ISO |
|
RGD |
PMID:10436391 |
RGD:11344920 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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|
G |
F2 |
coagulation factor II, thrombin |
|
ISO |
protein:increased expression:nasal mucus |
RGD |
PMID:21711961 |
RGD:5147783 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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|
G |
Fcgr3a |
Fc gamma receptor 3A |
susceptibility |
ISO |
DNA:polymorphism:exon:p.F158V(rs396991)(human) |
RGD |
PMID:18199088 |
RGD:5508449 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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|
G |
Gria1 |
glutamate ionotropic receptor AMPA type subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34624383 |
|
NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
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|
G |
Gria2 |
glutamate ionotropic receptor AMPA type subunit 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34624383 |
|
NCBI chr 2:165,949,379...166,069,510
Ensembl chr 2:165,947,521...166,069,510
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G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36127783 |
|
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Hrh1 |
histamine receptor H 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23333628 |
|
NCBI chr 4:147,564,963...147,649,353
Ensembl chr 4:147,645,995...147,647,455
|
|
G |
Ifng |
interferon gamma |
treatment |
ISO IDA |
associated with Asthma CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29871060 PMID:12787306 PMID:18510219 |
RGD:7829803, RGD:10755770 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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|
G |
Il10 |
interleukin 10 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:36127783 PMID:23883806 PMID:23253209 |
RGD:7364793, RGD:7364818 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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|
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 RGD |
PMID:17091279 PMID:22852128 PMID:12928861 PMID:23996716 |
RGD:4152796, RGD:8549518, RGD:8549516, RGD:8549501 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il13ra2 |
interleukin 13 receptor subunit alpha 2 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21462799 |
RGD:8549521 |
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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G |
Il17a |
interleukin 17A |
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 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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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 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1b |
interleukin 1 beta |
|
ISO |
protein:increased expression:nasal mucus |
RGD |
PMID:7750009 |
RGD:7401199 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il2 |
interleukin 2 |
|
IEP |
|
RGD |
PMID:12592663 |
RGD:8662963 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il4 |
interleukin 4 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:36127783 PMID:9893928 PMID:24620662 PMID:8908280 PMID:14653048 |
RGD:7829796, RGD:11522769, RGD:7829827, RGD:7829802 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il5 |
interleukin 5 |
treatment |
IEP |
|
RGD |
PMID:23934070 PMID:24620662 |
RGD:11354976, RGD:11522769 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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G |
Itgb2 |
integrin subunit beta 2 |
treatment |
IEP |
|
RGD |
PMID:12046991 |
RGD:9698435 |
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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G |
Mrc1 |
mannose receptor, C type 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36127783 |
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NCBI chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857
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G |
Muc1 |
mucin 1, cell surface associated |
severity |
ISO IMP IEP |
mRNA,protein:decreased expression:nasal mucosa |
RGD |
PMID:31425778 PMID:31425778 PMID:31425778 |
RGD:127345100, RGD:127345100, RGD:127345100 |
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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G |
Muc1em1Cgen |
mucin 1, cell surface associated; TALEN induced mutant 1, Cgen |
severity |
IMP |
|
RGD |
PMID:31425778 |
RGD:127345100 |
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G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
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IEP |
mRNA, protein:increased expression:nasal cavity epithelium |
RGD |
PMID:22972875 |
RGD:7364746 |
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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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 chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Ocln |
occludin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33441633 |
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NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
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G |
Pon1 |
paraoxonase 1 |
severity |
ISO |
protein:decreased activity:plasma (human) |
RGD |
PMID:23406590 |
RGD:8547583 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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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 1:228,409,605...229,638,794
Ensembl chr 1:228,408,947...229,639,080
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16979129 |
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NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
RT1-M3-1 |
RT1 class Ib, locus M3, gene 1 |
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ISO |
|
RGD |
PMID:20487636 |
RGD:5144132 |
NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117
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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 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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G |
Scgb3a2 |
secretoglobin, family 3A, member 2 |
susceptibility |
ISO |
DNA:SNP: :rs7726552 (human) |
RGD |
PMID:21410962 |
RGD:5144225 |
NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762
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G |
Serpine1 |
serpin family E member 1 |
|
ISO |
mRNA:increased expression:nasal mucosa (mouse) |
RGD |
PMID:21339035 |
RGD:8547809 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Tacr1 |
tachykinin receptor 1 |
|
IEP |
mRNA:increased expression:nasal mucosa |
RGD |
PMID:12768696 |
RGD:5147835 |
NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
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G |
Tgfb1 |
transforming growth factor, beta 1 |
treatment |
IEP |
|
RGD |
PMID:31368266 |
RGD:14995445 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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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 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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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 More...
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RGD:7800732, RGD:8552993, RGD:7800740, RGD:7800738, RGD:7800736, RGD:4145354 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
protein:decreased expression:nasal mucosa: |
RGD |
PMID:22577387 |
RGD:7800740 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Cyp2c6 |
cytochrome P450, family 2, subfamily C, polypeptide 6 |
treatment |
ISO |
associated with Eosinophilic Esophagitis; DNA:polymorphisms:: |
RGD |
PMID:26416193 |
RGD:11352743 |
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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G |
Il3 |
interleukin 3 |
susceptibility |
ISO |
DNA:SNP: :rs40401(human) |
RGD |
PMID:23953855 |
RGD:13506915 |
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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G |
Adrb1 |
adrenoceptor beta 1 |
disease_progression |
IMP |
|
RGD |
PMID:20959119 |
RGD:6893644 |
NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259
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G |
Agt |
angiotensinogen |
|
ISO |
|
RGD |
PMID:1422942 |
RGD:8548893 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Aspg |
asparaginase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:65671 |
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NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268
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G |
Btk |
Bruton tyrosine kinase |
treatment |
IMP |
|
RGD |
PMID:22228807 |
RGD:11040701 |
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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G |
Cabs1 |
calcium binding protein, spermatid associated 1 |
treatment |
ISO |
|
RGD |
PMID:25632019 |
RGD:14400306 |
NCBI chr14:20,096,962...20,099,024
Ensembl chr14:20,096,899...20,099,181
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G |
Cma1 |
chymase 1 |
|
ISO |
protein:increased expression:lung, mast cell (human) |
RGD |
PMID:17081716 |
RGD:5128820 |
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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G |
Fcgr2a |
Fc gamma receptor 2A |
susceptibility |
ISO |
associated with Agammaglobulinemia;DNA:mutation:splice junction: |
RGD |
PMID:23545275 PMID:26396093 |
RGD:11040993, RGD:11040995 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Grap2 |
GRB2-related adaptor protein 2 |
ameliorates |
ISO |
|
RGD |
PMID:18664516 |
RGD:126790488 |
NCBI chr 7:112,117,142...112,190,880
Ensembl chr 7:112,117,142...112,190,877
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G |
Hdac3 |
histone deacetylase 3 |
|
ISO |
|
RGD |
PMID:24619412 |
RGD:9590165 |
NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
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G |
Hp |
haptoglobin |
|
ISO |
|
RGD |
PMID:12147031 |
RGD:11041789 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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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 chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Kng1 |
kininogen 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7623993 |
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NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555
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G |
Ltb4r |
leukotriene B4 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10934231 |
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NCBI chr15:29,263,199...29,265,716
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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 chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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G |
Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
|
IMP |
|
RGD |
PMID:18480553 |
RGD:2300247 |
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
IMP ISO |
|
RGD |
PMID:18480553 PMID:17822719 |
RGD:2300247, RGD:1642600 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
IMP |
|
RGD |
PMID:21604443 |
RGD:7207802 |
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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G |
Btk |
Bruton tyrosine kinase |
treatment |
IMP |
|
RGD |
PMID:22228807 |
RGD:11040701 |
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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G |
Cfd |
complement factor D |
|
IDA |
|
RGD |
PMID:10605043 |
RGD:1624328 |
NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
ISO |
|
RGD |
PMID:23470165 |
RGD:9068463 |
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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G |
Fcgr2a |
Fc gamma receptor 2A |
treatment |
ISO |
|
RGD |
PMID:10762218 |
RGD:9588604 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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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 chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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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 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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G |
Ccr7 |
C-C motif chemokine receptor 7 |
|
ISO |
associated with Neutropenia |
RGD |
PMID:19783686 |
RGD:5130908 |
NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
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G |
Cd209d |
CD209d molecule |
|
ISO |
|
RGD |
PMID:21381282 |
RGD:5131183 |
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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G |
Cftr |
CF transmembrane conductance regulator |
severity |
ISO |
|
RGD |
PMID:22135344 |
RGD:35673332 |
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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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 4:162,875,360...162,902,571
Ensembl chr 4:162,877,346...162,901,247
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G |
Clec7a |
C-type lectin domain containing 7A |
|
ISO |
ClinVar Annotator: match by term: Aspergillosis, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 |
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NCBI chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897
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G |
Crp |
C-reactive protein |
treatment |
ISO |
|
RGD |
PMID:20879853 |
RGD:9495929 |
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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G |
Il15 |
interleukin 15 |
|
ISO |
DNA:polymorphism (human) |
RGD |
PMID:16893395 |
RGD:4981337 |
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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G |
Mbl1 |
mannose binding lectin 1 |
susceptibility |
ISO |
|
RGD |
PMID:20064561 |
RGD:8694071 |
NCBI chr16:17,029,146...17,035,187
Ensembl chr16:17,029,118...17,035,174
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
|
RGD |
PMID:20064561 |
RGD:8694071 |
NCBI chr 1:228,016,439...228,024,736
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G |
S100b |
S100 calcium binding protein B |
|
ISO |
DNA:SNP: :427C>T (human) |
RGD |
PMID:22114731 |
RGD:8695981 |
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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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 chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:19781388 |
RGD:4145322 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr6 |
toll-like receptor 6 |
susceptibility |
ISO |
DNA:SNP: :p.S249P (human) |
RGD |
PMID:16461792 |
RGD:4889535 |
NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
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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 1:65,732,910...65,747,377
Ensembl chr 1:65,732,632...65,747,341
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20485159 PMID:20022477 |
RGD:4145619 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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G |
Cysltr1 |
cysteinyl leukotriene receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16502481 PMID:17641958 PMID:20485159 |
|
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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G |
Cysltr2 |
cysteinyl leukotriene receptor 2 |
|
ISO |
DNA:SNPs: :-819T>G, 2078C>T, 2534A>G (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16502481 PMID:20485159 PMID:15970796 |
RGD:5144000 |
NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
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G |
Fancc |
FA complementation group C |
|
ISO |
DNA:haplotype::rs4647416(human) |
RGD |
PMID:21670957 |
RGD:11045795 |
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
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G |
Il4 |
interleukin 4 |
susceptibility |
ISO |
DNA:SNPs:promoter,5'UTR,intron:multiple |
RGD |
PMID:20921925 |
RGD:11528633 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Ltc4s |
leukotriene C4 synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9393345 PMID:9466979 PMID:10970818 PMID:20485159 |
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NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
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G |
Ms4a2 |
membrane spanning 4-domains A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16502481 |
|
NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310
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G |
Postn |
periostin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18391768 |
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NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
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G |
Ptgdr2 |
prostaglandin D2 receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20485159 |
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NCBI chr 1:207,585,088...207,590,275
Ensembl chr 1:207,587,917...207,589,213
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G |
Ptger2 |
prostaglandin E receptor 2 |
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ISO |
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:15496426 PMID:16502481 |
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NCBI chr15:18,215,013...18,228,714
Ensembl chr15:18,217,285...18,228,714
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G |
Ptgir |
prostaglandin I2 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20485159 |
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NCBI chr 1:77,579,596...77,581,979
Ensembl chr 1:77,579,596...77,581,979
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
protein:increased expression:mast cell CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16502481 PMID:20485159 PMID:9487340 |
RGD:5143936 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
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RGD |
PMID:25975240 |
RGD:11074090 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
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RGD |
PMID:25975240 |
RGD:11074090 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
|
RGD |
PMID:25975240 |
RGD:11074090 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
RT1-Hb-ps1 |
RT1 class II, locus Hb, pseudogene 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16502481 |
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NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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G |
Tap2 |
transporter 2, ATP binding cassette subfamily B member |
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ISO |
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RGD |
PMID:21796142 |
RGD:5147839 |
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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G |
Tbx21 |
T-box transcription factor 21 |
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ISO |
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:15806396 PMID:16502481 |
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NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
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G |
Tbxa2r |
thromboxane A2 receptor |
susceptibility |
ISO |
DNA:polymorphism: :795T>C (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16502481 PMID:20485159 PMID:15898979 |
RGD:11059537 |
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
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ISO |
protein:increased expression:blood, lymphocyte |
RGD |
PMID:19484671 |
RGD:4890020 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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G |
Abcc1 |
ATP binding cassette subfamily C member 1 |
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ISO |
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RGD |
PMID:18931056 |
RGD:5128825 |
NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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G |
Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
no_association |
ISO |
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RGD |
PMID:19771478 PMID:16008680 |
RGD:5128835, RGD:5128831 |
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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G |
Ace |
angiotensin I converting enzyme |
susceptibility |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:19484664 PMID:19383228 |
RGD:4140913, RGD:4140919 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Acsl3 |
acyl-CoA synthetase long-chain family member 3 |
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ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:19221603 |
RGD:13831295 |
NCBI chr 9:80,115,164...80,164,636
Ensembl chr 9:80,115,112...80,164,627
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G |
Ada |
adenosine deaminase |
susceptibility |
ISO |
DNA:polymorphisms (human) |
RGD |
PMID:16754522 |
RGD:5128848 |
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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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 More...
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RGD:4145360, RGD:4145379, RGD:4145382, RGD:1331525, RGD:4145380, RGD:4145359, RGD:4145378 |
NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461
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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 1:194,776,559...194,789,330
Ensembl chr 1:194,770,060...194,788,801
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G |
Adcy2 |
adenylate cyclase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
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NCBI chr 1:34,375,639...34,822,252
Ensembl chr 1:34,375,895...34,822,236
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G |
Adcyap1r1 |
ADCYAP receptor type I |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21059121 |
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NCBI chr 4:84,593,558...84,642,700
Ensembl chr 4:84,593,892...84,642,700
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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 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
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RGD |
PMID:19168697 |
RGD:5686821 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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G |
Adora1 |
adenosine A1 receptor |
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ISO |
DNA:SNPs: :1405C>T (human) protein:increased expression:bronchus |
RGD |
PMID:19019667 PMID:17959644 PMID:20400685 |
RGD:4890386, RGD:5129097, RGD:4145444 |
NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
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G |
Adora2a |
adenosine A2a receptor |
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ISO |
DNA:SNP (human) mRNA:decreased expression:aorta |
RGD |
PMID:17293374 PMID:16339780 PMID:19019667 PMID:18310516 |
RGD:4890380, RGD:4890385, RGD:4890386, RGD:4890366 |
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
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G |
Adrb2 |
adrenoceptor beta 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to DNA:SNP: :-1023A>G (human) DNA:SNPs: :p.R16G, p.Q27E (human) DNA:SNPs:promoter:multiple (human) DNA:polymorphism: :p.R16G (human) DNA:SNP: :p.Q27E (human) |
ClinVar RGD |
PMID:8383511 PMID:15284533 PMID:16596417 PMID:1655856 PMID:15118671 PMID:19638684 PMID:18785519 PMID:19423772 PMID:20443840 PMID:19029431 PMID:20004781 PMID:19800676 PMID:18569231 More...
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RGD:5129113, RGD:1331525, RGD:4145081, RGD:4145094, RGD:4145107, RGD:4145108, RGD:4145092, RGD:4145105, RGD:4145061, RGD:4145096 |
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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G |
Ager |
advanced glycosylation end product-specific receptor |
treatment onset |
ISO IDA IEP |
CTD Direct Evidence: marker/mechanism protein:decreased expression:lung (rat) |
CTD RGD |
PMID:33075463 PMID:21920897 PMID:23304218 PMID:23304218 |
RGD:6767554, RGD:7244279, RGD:7244279 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
Agtr1a |
angiotensin II receptor, type 1a |
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ISO IMP |
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RGD |
PMID:17877756 PMID:19080339 |
RGD:5147452, RGD:5147457 |
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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G |
Agtr2 |
angiotensin II receptor, type 2 |
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IEP |
mRNA, protein:increased expression:lung |
RGD |
PMID:19080339 |
RGD:5147457 |
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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G |
Aldh2 |
aldehyde dehydrogenase 2 family member |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9600491 PMID:11506308 PMID:15118671 |
RGD:1331525 |
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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G |
Alox15 |
arachidonate 15-lipoxygenase |
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ISO |
protein:increased expression:lung |
RGD |
PMID:19628725 PMID:18692885 |
RGD:5509605, RGD:5509784 |
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
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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) |
OMIM CTD RGD |
PMID:20128419 PMID:9642160 PMID:12911785 PMID:8879219 PMID:11035107 PMID:19033731 PMID:10369259 PMID:16364163 PMID:17394438 PMID:18204779 More...
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RGD:4890407, RGD:5147467, RGD:5147465, RGD:5147462, RGD:4890422, RGD:4890408, RGD:734557, RGD:4890415, RGD:4890413, RGD:4890410 |
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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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 More...
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RGD:4890405, RGD:5147467, RGD:5147466, RGD:5147465, RGD:5147464, RGD:5147462, RGD:4890422, RGD:4890407, RGD:4890409 |
NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
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G |
Ambp |
alpha-1-microglobulin/bikunin precursor |
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ISO |
protein:increased expression:serum |
RGD |
PMID:14621078 |
RGD:6904149 |
NCBI chr 5:76,568,094...76,578,416
Ensembl chr 5:76,568,094...76,578,331
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G |
Ang |
angiogenin |
severity |
ISO |
protein:increased expression:sputum |
RGD |
PMID:16478840 |
RGD:6892719 |
NCBI chr15:24,312,711...24,323,361
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G |
Anxa1 |
annexin A1 |
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ISO |
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RGD |
PMID:22092555 |
RGD:7421657 |
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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G |
Areg |
amphiregulin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15696081 |
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NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
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G |
Arg1 |
arginase 1 |
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ISO |
DNA:SNP: :rs2781667 (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (mouse) mRNA, protein:increased expression:lung, mononuclear cell (human) |
CTD RGD |
PMID:19281908 PMID:19800904 PMID:20124949 PMID:12813022 PMID:12813022 |
RGD:5129205, RGD:4143187, RGD:4143187 |
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
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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 RGD |
PMID:19281908 PMID:20124949 PMID:12813022 PMID:16387594 |
RGD:5129205, RGD:4143187, RGD:5129207 |
NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
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G |
Bcl2 |
BCL2, apoptosis regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18357729 |
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NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Bdkrb2 |
bradykinin receptor B2 |
onset |
ISO IMP |
DNA:polymorphism:exon (human) protein:increased expression:blood, eosinophil |
RGD |
PMID:11517947 PMID:14727005 PMID:8856156 PMID:19038786 |
RGD:4890456, RGD:4890454, RGD:4891042, RGD:4891028 |
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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G |
Bdnf |
brain-derived neurotrophic factor |
susceptibility severity |
ISO |
protein:decreased expression:blood, eosinophil DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human) DNA:polymorphisms: :p.V66M, -270C>T (human) DNA:polymorphisms: :p.V66M (rs6265) (human) protein:increased expression:plasma |
RGD |
PMID:12752594 PMID:21723144 PMID:17584309 PMID:19895626 PMID:20874832 PMID:11737043 More...
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RGD:4891122, RGD:8655967, RGD:4891067, RGD:4891117, RGD:4891063, RGD:4891123 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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G |
Bglap |
bone gamma-carboxyglutamate protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8429434 |
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NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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G |
Bmpr1b |
bone morphogenetic protein receptor type 1B |
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ISO |
protein:decreased expression:bronchus |
RGD |
PMID:18292470 |
RGD:5129470 |
NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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G |
Bmpr2 |
bone morphogenetic protein receptor type 2 |
|
ISO |
protein:decreased expression:bronchus |
RGD |
PMID:18292470 |
RGD:5129470 |
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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G |
C3 |
complement C3 |
severity |
ISO |
DNA:SNPs: :multiple (human) protein:increased expression:serum DNA:SNP: :4896C>T (human) DNA:SNP:intron:rs11569562 (human) Interaction with IL4RA protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:16355111 PMID:20589464 PMID:15278436 PMID:18566738 PMID:20402389 PMID:20395963 PMID:20802484 PMID:11591733 More...
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RGD:5129505, RGD:5129519, RGD:5129512, RGD:5129501, RGD:5129537, RGD:5129538, RGD:5129681, RGD:5129517 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
C3ar1 |
complement C3a receptor 1 |
severity |
ISO IEP |
mRNA:increased expression:lung protein:increased expression:lung, leukocyte |
RGD |
PMID:20045013 PMID:17544263 PMID:20802484 PMID:15940127 PMID:15278436 |
RGD:5129686, RGD:5129560, RGD:5129681, RGD:5129561, RGD:5129512 |
NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
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G |
C5 |
complement C5 |
severity |
ISO IDA |
mRNA:decreased expression:lung |
RGD |
PMID:10973279 PMID:20143644 PMID:20802484 PMID:15278436 PMID:11591795 |
RGD:5130158, RGD:5129706, RGD:5129681, RGD:5129512, RGD:1600651 |
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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G |
C5ar1 |
complement C5a receptor 1 |
severity |
ISO IEP |
protein:increased expression:lung, leukocyte protein:increased expression:respiratory tract |
RGD |
PMID:20802484 PMID:17544263 PMID:15940127 PMID:16511606 |
RGD:5129681, RGD:5129560, RGD:5129561, RGD:5130166 |
NCBI chr 1:76,948,622...76,959,826
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G |
Card11 |
caspase recruitment domain family, member 11 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma |
ClinVar RGD |
PMID:18323416 PMID:23027925 PMID:23129749 PMID:25352053 PMID:25741868 PMID:26861442 PMID:28492532 PMID:28824638 PMID:29472930 PMID:16751370 More...
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RGD:11100037 |
NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112
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G |
Carm1 |
coactivator-associated arginine methyltransferase 1 |
|
IEP |
mRNA:decreased expression:lung |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
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G |
Casp1 |
caspase 1 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:12396474 |
RGD:5130192 |
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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G |
Cat |
catalase |
severity |
ISO |
DNA:polymorphism:promoter:-21A>T (human) CTD Direct Evidence: marker/mechanism protein:decreased activity:respiratory system fluid/secretion DNA:polymorphism:promoter:-262C>T (human) protein:increased expression:erythrocyte |
CTD RGD |
PMID:18048809 PMID:19373626 PMID:16622028 PMID:18048809 PMID:19475625 |
RGD:5130753, RGD:5130867, RGD:5130856, RGD:5130751 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Ccl1 |
C-C motif chemokine ligand 1 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:20455898 |
RGD:4891420 |
NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
susceptibility treatment severity |
ISO IDA IEP |
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism DNA:polymorphism: :p.A23T (human) mRNA:increased expression:lung |
OMIM CTD RGD |
PMID:16304252 PMID:22932891 PMID:17074272 PMID:9034156 PMID:17845580 PMID:18250471 PMID:20704746 PMID:17060636 More...
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RGD:5130930, RGD:7248416, RGD:4145461, RGD:4145451, RGD:4145457, RGD:4145392, RGD:4145387, RGD:4891485 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
|
IEP ISO |
mRNA:increased expression:lung protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:15993846 PMID:15947487 PMID:20074456 PMID:20237293 PMID:11160256 |
RGD:2306304, RGD:4145513, RGD:4145487, RGD:4145486, RGD:4145603 |
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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G |
Ccl19 |
C-C motif chemokine ligand 19 |
|
ISO |
protein:increased expression:bronchus submucosa, mast cell |
RGD |
PMID:16959919 |
RGD:5130911 |
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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|
G |
Ccl2 |
C-C motif chemokine ligand 2 |
severity treatment |
ISO IEP |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (mouse) DNA:haplotype::-2518A>G (human) protein:increased expression:lung |
CTD RGD |
PMID:19373627 PMID:19373627 PMID:12055264 PMID:25441643 PMID:23454776 PMID:17964702 PMID:20205697 More...
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RGD:4891466, RGD:11528570, RGD:11528569, RGD:8551842, RGD:2307055, RGD:4145509 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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|
G |
Ccl20 |
C-C motif chemokine ligand 20 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion associated with Allergic Rhinitis;protein:increased expression:serum |
RGD |
PMID:18422729 PMID:22469443 |
RGD:7483597, RGD:7483618 |
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
|
|
G |
Ccl22 |
C-C motif chemokine ligand 22 |
|
ISO IEP |
protein:increased expression:respiratory system fluid/secretion mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion mRNA:increased expression:lung |
RGD |
PMID:18316417 PMID:10384142 PMID:18684970 PMID:15993846 |
RGD:4891474, RGD:4891475, RGD:4145489, RGD:2306304 |
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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|
G |
Ccl24 |
C-C motif chemokine ligand 24 |
susceptibility |
ISO |
DNA:SNPs: :179T>C, 275C>T (human) protein:increased expression:respiratory system fluid/secretion DNA:SNP: :1265A>G (human) DNA:SNPs: :304C>A, 1272A>G (human) protein:increased expression:plasma |
RGD |
PMID:15207712 PMID:17548626 PMID:12952266 PMID:12761043 PMID:18712274 PMID:17060636 PMID:16304252 More...
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RGD:4891495, RGD:4891484, RGD:4891496, RGD:5130932, RGD:4891483, RGD:4891485, RGD:5130930 |
NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893
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|
G |
Ccl26 |
C-C motif chemokine ligand 26 |
treatment |
ISO IDA |
protein:increased expression:plasma DNA:SNPs: :77C>T, 2497T>G (human) DNA:SNPs: :77C>T, 716A>G, 1579G>A (human) |
RGD |
PMID:16304252 PMID:25399816 PMID:25530546 PMID:15207712 PMID:18712274 |
RGD:5130930, RGD:11087575, RGD:11081163, RGD:4891495, RGD:4891483 |
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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|
G |
Ccl27 |
C-C motif chemokine ligand 27 |
|
ISO |
|
RGD |
PMID:19541356 |
RGD:5130899 |
NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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|
G |
Ccl28 |
C-C motif chemokine ligand 28 |
|
ISO |
mRNA:increased expression:lung (mouse) |
RGD |
PMID:16290206 |
RGD:4892195 |
NCBI chr 2:51,601,354...51,625,999
Ensembl chr 2:51,601,331...51,625,997
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|
G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
ISO |
|
RGD |
PMID:18774390 |
RGD:5130915 |
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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|
G |
Ccl5 |
C-C motif chemokine ligand 5 |
susceptibility |
IEP ISO |
protein:increased expression:smooth muscle cell CTD Direct Evidence: marker/mechanism DNA:transition:5' utr:-403G>A (human) protein:increased expression:lung, secretion (mouse) |
CTD RGD |
PMID:8534483 PMID:18208670 PMID:20430255 PMID:20092989 |
RGD:2307112, RGD:4891381, RGD:4891430 |
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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|
G |
Ccl7 |
C-C motif chemokine ligand 7 |
|
ISO |
|
RGD |
PMID:21388664 PMID:19965981 |
RGD:5130983, RGD:5130979 |
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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|
G |
Ccr1 |
C-C motif chemokine receptor 1 |
severity |
ISO |
mRNA:increased expression:lung associated with Respiratory Syncytial Virus Infections |
RGD |
PMID:15654816 PMID:15593301 |
RGD:5688158, RGD:5688159 |
NCBI chr 8:123,556,286...123,561,841
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|
G |
Ccr2 |
C-C motif chemokine receptor 2 |
susceptibility |
ISO |
DNA:SNP:cds:p.V64I (human) DNA:haplotype:cds:p.V64I(human) protein:increased expression:lung, dendritic cell (mouse) |
RGD |
PMID:17298432 PMID:23454776 PMID:19917684 |
RGD:4145110, RGD:8551842, RGD:8549811 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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|
G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO IMP |
protein:increased expression:respiratory system fluid/secretion, neutrophil DNA:SNP:exon:51T>C (human) |
RGD |
PMID:18699933 PMID:19017998 PMID:20220260 PMID:16978084 PMID:19657453 PMID:20134116 PMID:17145927 More...
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RGD:4145633, RGD:4145632, RGD:4145638, RGD:4145646, RGD:4145623, RGD:4145618, RGD:1601020 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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G |
Ccr4 |
C-C motif chemokine receptor 4 |
|
IEP |
mRNA:increased expression:lung |
RGD |
PMID:15993846 |
RGD:2306304 |
NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
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|
G |
Ccr5 |
C-C motif chemokine receptor 5 |
no_association |
ISO |
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) DNA:polymorphism, frameshift mutation: :-59029G>A, p.S185_T195del (rs333) (human) mRNA:increased expression:lung (mouse) protein:decreased expression:blood, lymphocyte (human) |
RGD |
PMID:20220260 PMID:23454776 PMID:16474097 PMID:18094012 PMID:15256090 |
RGD:4145638, RGD:8551842, RGD:4892093, RGD:4892088, RGD:4892108 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Ccr6 |
C-C motif chemokine receptor 6 |
|
ISO |
protein:increased expression:lung, dendritic cell (mouse) |
RGD |
PMID:19917684 |
RGD:8549811 |
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
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G |
Ccr7 |
C-C motif chemokine receptor 7 |
|
ISO |
protein:increased expression:lung, dendritic cell (mouse) |
RGD |
PMID:19917684 |
RGD:8549811 |
NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
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G |
Ccr8 |
C-C motif chemokine receptor 8 |
|
IEP |
mRNA:increased expression:lung |
RGD |
PMID:15993846 |
RGD:2306304 |
NCBI chr 8:119,826,332...119,828,292
Ensembl chr 8:119,826,568...119,827,629
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|
G |
Ccr9 |
C-C motif chemokine receptor 9 |
|
ISO |
mRNA, protein:increased expression:blood, mature NK T cell |
RGD |
PMID:16210593 |
RGD:5130925 |
NCBI chr 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969
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|
G |
Cd14 |
CD14 molecule |
severity no_association susceptibility |
ISO |
DNA:polymorphism:promoter:c. -260C>T (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:c. -159C>T (human) DNA:SNPs: : protein:increased expression:serum|DNA:polymorphism:promoter:c. -159C>T (human) |
CTD RGD |
PMID:17607003 PMID:15940135 PMID:15741437 PMID:19096003 PMID:16387800 PMID:18312481 More...
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RGD:4144814, RGD:4144815, RGD:4144228, RGD:4144813, RGD:4144208 |
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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|
G |
Cd1d1 |
CD1d1 molecule |
susceptibility |
ISO |
associated with fasciolopsiasis |
RGD |
PMID:20304473 |
RGD:4140417 |
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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G |
Cd209c |
CD209c molecule |
|
ISO |
|
RGD |
PMID:21471959 |
RGD:5131188 |
NCBI chr12:1,936,233...1,943,841
Ensembl chr12:1,936,396...1,942,040
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G |
Cd209d |
CD209d molecule |
|
ISO |
|
RGD |
PMID:21471959 |
RGD:5131188 |
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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|
G |
Cd274 |
CD274 molecule |
treatment |
ISO |
associated with Chlamydia pneumonia |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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G |
Cd28 |
Cd28 molecule |
|
ISO |
|
RGD |
PMID:21356099 |
RGD:5131612 |
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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|
G |
Cd40 |
CD40 molecule |
treatment |
ISO IDA IEP |
|
RGD |
PMID:19220210 PMID:20205594 PMID:20205594 PMID:20941750 PMID:19159017 |
RGD:5132272, RGD:8547792, RGD:8547792, RGD:4892277, RGD:4144188 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
severity |
ISO |
|
RGD |
PMID:9502776 |
RGD:11352238 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Cd80 |
Cd80 molecule |
|
ISO |
|
RGD |
PMID:21352203 PMID:21051864 PMID:21440530 |
RGD:5132620, RGD:5132621, RGD:5132619 |
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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|
G |
Cd86 |
CD86 molecule |
treatment |
ISO IEP |
protein:increased expression:lung, alveolar macrophage (mouse) protein:increased expression:blood, B cell (human) protein:increased expression:lung, dendritic cell (rat) DNA:snp:exon:p.I179V rs2681417 (human) |
RGD |
PMID:20941750 PMID:25344652 PMID:9449507 PMID:20668438 PMID:9551945 PMID:17513529 More...
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RGD:4892277, RGD:11354965, RGD:4892555, RGD:4892199, RGD:4892202, RGD:4892280 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Cdh1 |
cadherin 1 |
|
ISO |
|
RGD |
PMID:21540309 |
RGD:5132878 |
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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|
G |
Cdhr3 |
cadherin-related family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24241537 |
|
NCBI chr 6:49,641,833...49,702,016
Ensembl chr 6:49,641,813...49,702,017
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|
G |
Cftr |
CF transmembrane conductance regulator |
susceptibility |
ISO |
DNA:deletion: :F508del(human) |
RGD |
PMID:20298391 |
RGD:4140387 |
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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|
G |
Chat |
choline O-acetyltransferase |
|
IEP |
Protein:decreased expression:lung epithelium |
RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
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|
G |
Chi3l1 |
chitinase 3 like 1 |
susceptibility |
ISO |
human gene in mouse model ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 7 DNA:snp:5' utr:g.-131C>G rs4950928 (human) protein:increased secretion:serum (human) |
OMIM ClinVar RGD |
PMID:18403759 PMID:19414556 PMID:19568425 PMID:18003958 |
RGD:4892663, RGD:4892630, RGD:4892632 |
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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G |
Chia |
chitinase, acidic |
no_association |
ISO |
DNA:snps:5' utr, cds:multiple (human) DNA:snps:multiple (human) mRNA:increased expression:lung, epithelial cell (human) mRNA:increased expression:lung (mouse) |
RGD |
PMID:16179638 PMID:20226308 PMID:19548841 PMID:15192232 PMID:14734765 |
RGD:4996473, RGD:5024922, RGD:5024921, RGD:4985150, RGD:4990463 |
NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533
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G |
Chml |
CHM like Rab escort protein |
|
ISO |
|
RGD |
PMID:18343558 |
RGD:5133238 |
NCBI chr13:87,609,647...87,619,868
Ensembl chr13:87,589,298...87,619,862
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G |
Chrm1 |
cholinergic receptor, muscarinic 1 |
|
ISO |
|
RGD |
PMID:16931638 |
RGD:5133416 |
NCBI chr 1:205,567,226...205,583,001
Ensembl chr 1:205,567,220...205,582,356
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|
G |
Chrm2 |
cholinergic receptor, muscarinic 2 |
|
ISO |
DNA:SNP: :rs6962027 (human) |
RGD |
PMID:19308904 |
RGD:5509586 |
NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
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|
G |
Chrm3 |
cholinergic receptor, muscarinic 3 |
severity |
ISO |
|
RGD |
PMID:20394512 PMID:18348887 |
RGD:5133437, RGD:5133438 |
NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
|
ISO |
|
RGD |
PMID:18643924 |
RGD:5133701 |
NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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|
G |
Clca1 |
chloride channel accessory 1 |
susceptibility |
ISO |
DNA:SNPs (human) |
RGD |
PMID:11296262 PMID:17898169 PMID:15318163 |
RGD:4145661, RGD:4145653, RGD:4145656 |
NCBI chr 2:233,938,677...233,964,369
Ensembl chr 2:233,938,677...233,964,369
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G |
Cldn18 |
claudin 18 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27215490 |
|
NCBI chr 8:100,246,499...100,265,797
Ensembl chr 8:100,247,633...100,273,351
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|
G |
Cma1 |
chymase 1 |
severity susceptibility no_association |
ISO |
protein:increased expression:lung epithelium, mast cell (human) DNA:duplications:3' utr:g.*254-?dupTG, dupGA (human) DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) |
RGD |
PMID:20813890 PMID:15924217 PMID:15248847 |
RGD:5128804, RGD:1625396, RGD:1625397 |
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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|
G |
Crhr1 |
corticotropin releasing hormone receptor 1 |
|
ISO |
DNA:SNP: :RS242941 (human) DNA:SNPs: :rs1876828, rs242939, rs242941 (human) |
RGD |
PMID:19663668 PMID:16113459 |
RGD:5147485, RGD:5147488 |
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
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G |
Crhr2 |
corticotropin releasing hormone receptor 2 |
|
ISO |
DNA:SNPs: :multiple (human) |
RGD |
PMID:18408560 |
RGD:5130938 |
NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
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|
G |
Crp |
C-reactive protein |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21140796 |
RGD:5131288 |
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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|
G |
Csf2 |
colony stimulating factor 2 |
severity |
ISO |
protein:increased expression:lung protein:increased expression:sputum |
RGD |
PMID:20405019 PMID:9717963 PMID:19213775 |
RGD:5131473, RGD:10449521, RGD:5131476 |
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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|
G |
Csf2rb |
colony stimulating factor 2 receptor subunit beta |
|
IMP |
|
RGD |
PMID:17145927 |
RGD:1601020 |
NCBI chr 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157
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G |
Csf3 |
colony stimulating factor 3 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:21396376 PMID:20405019 |
RGD:5133731, RGD:5131473 |
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
severity treatment no_association |
ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple (human) DNA:SNP: :rs3087243 (human) DNA:polymorphism:promoter:-318C>T (human) DNA:SNPs:promoter, exon:-1147C>T, -318C>T, 49A>G (human) DNA:polymorphisms:promoter, exon:-318C>T 49A>G (human) |
CTD RGD |
PMID:28807506 PMID:15871446 PMID:11726402 PMID:17237396 PMID:15316504 PMID:19895365 PMID:16677453 PMID:12114354 PMID:18699801 PMID:16926542 PMID:16708626 PMID:17469155 PMID:12956753 More...
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RGD:4891529, RGD:11344922, RGD:4891514, RGD:4891519, RGD:4891526, RGD:4891517, RGD:4891522, RGD:4891510, RGD:4891528, RGD:4891516, RGD:4891527, RGD:4891521 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Ctnna3 |
catenin alpha 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19187332 |
|
NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978
|
|
G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:14657873 |
RGD:4891906 |
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
|
|
G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
no_association |
ISO |
DNA:SNPs: :p.V249I, rs2669849 (human) DNA:polymorphisms: :p.V249I, p.T280M (human) |
RGD |
PMID:21037587 PMID:17082760 PMID:17505143 |
RGD:4891882, RGD:4891895, RGD:4891904 |
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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|
G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
severity |
ISO |
|
RGD |
PMID:20371397 |
RGD:5134983 |
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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|
G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
protein:decreased expression:plasma |
RGD |
PMID:17302903 PMID:16602032 PMID:11994485 |
RGD:5135439, RGD:5135457, RGD:5135452 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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|
G |
Cxcl14 |
C-X-C motif chemokine ligand 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21150878 |
|
NCBI chr17:8,317,930...8,325,956
Ensembl chr17:8,317,933...8,324,839
|
|
G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:20045013 |
RGD:5129686 |
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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|
G |
Cxcl3 |
C-X-C motif chemokine ligand 3 |
severity |
ISO |
|
RGD |
PMID:20371397 |
RGD:5134983 |
NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
|
|
G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
|
ISO |
mRNA:increased expression:bronchus epithelium |
RGD |
PMID:17234659 PMID:9620668 |
RGD:5135243, RGD:5135265 |
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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|
G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
|
ISO |
|
RGD |
PMID:15210824 |
RGD:5135447 |
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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|
G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
susceptibility severity |
ISO |
DNA:SNP:intron:IVS1+234G>A (human) protein:decreased expression:respiratory system fluid/secretion, T cell |
RGD |
PMID:18094012 PMID:16043121 PMID:16548899 PMID:17641057 |
RGD:4892088, RGD:5143934, RGD:5143932, RGD:5135484 |
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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G |
Cyba |
cytochrome b-245 alpha chain |
susceptibility |
ISO |
DNA:polymorphism: :-930A>G (human) DNA:SNPs: :-930A>G, 242C>T, 640A>G (human) |
RGD |
PMID:19459419 PMID:18716406 |
RGD:4311041, RGD:4772770 |
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
mRNA, protein:increased expression, decreased activity:lung |
RGD |
PMID:12415424 |
RGD:4892074 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Cyp2d4 |
cytochrome P450, family 2, subfamily d, polypeptide 4 |
|
ISO |
DNA:polymorphism: :1934G>A (human) |
RGD |
PMID:19575027 |
RGD:5143944 |
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
ISO |
mRNA:decreased expression:leukocyte CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:28807506 PMID:20514434 PMID:17081494 |
RGD:4892076, RGD:4892220 |
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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|
G |
Cysltr1 |
cysteinyl leukotriene receptor 1 |
no_association severity |
ISO |
DNA:SNPs:promoter, exon:multiple (human) DNA:SNPs:promoter:-634C>T, -475A>C, -336A>G (human) DNA:SNP: :927T>C (human) mRNA, protein:increased expression:respiratory system mucosa |
RGD |
PMID:16771777 PMID:16630147 PMID:16776674 PMID:8087328 PMID:16387808 PMID:11591188 PMID:17153879 PMID:17689528 PMID:16123393 More...
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RGD:4889116, RGD:4784257, RGD:4782072, RGD:4888514, RGD:4843543, RGD:4848936, RGD:4781742, RGD:4781449, RGD:4847129 |
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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G |
Cysltr2 |
cysteinyl leukotriene receptor 2 |
|
ISO |
DNA:polymorphism: :601A>G (human) DNA:polymorphism: :-1220A>C (human) |
RGD |
PMID:15475736 PMID:15454733 |
RGD:5144002, RGD:5144003 |
NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
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G |
Dcn |
decorin |
|
IEP |
|
RGD |
PMID:16387756 |
RGD:2311423 |
NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270
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G |
Defb1 |
defensin beta 1 |
susceptibility |
ISO |
DNA:SNP: :-1816 T>C (human) DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human) |
RGD |
PMID:15696078 PMID:16435024 |
RGD:4892263, RGD:4892254 |
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
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G |
Dnah5 |
dynein, axonemal, heavy chain 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
|
NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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G |
Dnmt1 |
DNA methyltransferase 1 |
|
ISO |
DNA,mRNA:hypermethylation,decreased expression:promoter,respiratory tract: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23423710 PMID:23196709 |
RGD:9588646 |
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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G |
Dpp10 |
dipeptidyl peptidase like 10 |
|
ISO IEP |
DNA:SNPs (human) DNA:SNP: :rs10208402 (human) DNA:SNP:exon (human) protein:increased expression:bronchus |
RGD GAD |
PMID:21103062 PMID:15118671 PMID:19672052 PMID:14566338 PMID:17967935 |
RGD:4889866, RGD:1331525, RGD:4892275, RGD:4892276, RGD:4892278 |
NCBI chr13:34,584,420...36,269,292
Ensembl chr13:34,595,868...36,269,292
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G |
Ebi3 |
Epstein-Barr virus induced 3 |
|
ISO |
|
RGD |
PMID:21255010 |
RGD:5128488 |
NCBI chr 9:774,252...787,544
Ensembl chr 9:783,617...787,544
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G |
Edn1 |
endothelin 1 |
|
ISO |
Severe Persistent Allergic Asthma; protein:increased secretion:lung (human) CTD Direct Evidence: marker/mechanism DNA:transition:intron:g.4124T>C (human) |
CTD RGD |
PMID:16981460 PMID:20588001 PMID:11668616 |
RGD:4144895, RGD:4144869 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Ednra |
endothelin receptor type A |
|
ISO |
|
RGD |
PMID:17448648 PMID:18632188 |
RGD:4892322, RGD:4892288 |
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
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G |
Ednrb |
endothelin receptor type B |
|
IEP ISO |
mRNA:increased expression:bronchus, smooth muscle cell DNA:polymorphism (human) |
RGD |
PMID:15245576 PMID:17470272 PMID:18632188 |
RGD:4892324, RGD:4892321, RGD:4892288 |
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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G |
Egfr |
epidermal growth factor receptor |
severity |
IEP ISO |
protein:increased expression:lung epithelium (rat) protein:increased expression:bronchial epithelium (human) protein:increased expression:lung epithelium (mouse) |
RGD |
PMID:19954006 PMID:12580917 PMID:21224214 PMID:21072743 |
RGD:5131870, RGD:5131468, RGD:5131633, RGD:5131642 |
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Egr1 |
early growth response 1 |
|
ISO |
mRNA:increased expression:bronchoalveolar lavage cell (human) DNA:snp:5' utr:g.-4071A>G rs7729723 (human) |
RGD |
PMID:11254538 PMID:18774390 PMID:18507785 |
RGD:5131985, RGD:5130915, RGD:5131993 |
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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G |
Elp1 |
elongator acetyltransferase complex subunit 1 |
no_association |
ISO |
|
RGD |
PMID:12774215 PMID:11281413 |
RGD:5129158, RGD:5129157 |
NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
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G |
Ephx1 |
epoxide hydrolase 1 |
susceptibility |
ISO |
DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) |
RGD |
PMID:17711870 |
RGD:4889407 |
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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G |
Epx |
eosinophil peroxidase |
severity disease_progression |
ISO |
protein:increased activity:sputum,nasal,pharyngeal mucosa |
RGD |
PMID:26645423 PMID:12199967 PMID:20813885 |
RGD:11574908, RGD:13506892, RGD:13506891 |
NCBI chr10:72,666,865...72,677,952
Ensembl chr10:72,666,865...72,677,952
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G |
Esr2 |
estrogen receptor 2 |
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IEP |
mRNA:decreased expression:lung (rat) |
RGD |
PMID:18375789 |
RGD:8694127 |
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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G |
F2 |
coagulation factor II, thrombin |
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ISO |
protein:increased expression:plasma associated with Rhinosinusitis, associated with Nasal Polyps;protein:increased expression:nasal mucus |
RGD |
PMID:21658190 PMID:21711961 |
RGD:5147753, RGD:5147783 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
F2rl1 |
F2R like trypsin receptor 1 |
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ISO |
|
RGD |
PMID:19864598 |
RGD:4892589 |
NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226
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G |
F7 |
coagulation factor VII |
treatment |
IDA |
|
RGD |
PMID:24523826 |
RGD:11040539 |
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
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G |
Fas |
Fas cell surface death receptor |
|
IEP |
mRNA:increased expression:eosinophil |
RGD |
PMID:16337971 |
RGD:1600350 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Fcer1a |
Fc epsilon receptor Ia |
severity |
ISO |
Asthma symptoms persistent despite steroids in humans Fatal asthma subjects |
RGD |
PMID:20937062 PMID:21388666 |
RGD:5128717, RGD:5128711 |
NCBI chr13:85,686,099...85,692,394
Ensembl chr13:85,686,092...85,692,351
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G |
Fcgr2a |
Fc gamma receptor 2A |
|
ISO |
protein:increased expression:alveolar macrophage |
RGD |
PMID:9117017 |
RGD:5147982 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fcgr2b |
Fc gamma receptor 2B |
|
ISO |
|
RGD |
PMID:20179765 |
RGD:11344929 |
NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778
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G |
Fcgr3a |
Fc gamma receptor 3A |
susceptibility |
ISO |
DNA:polymorphism:exon:p.F158V(rs396991)(human) |
RGD |
PMID:18199088 |
RGD:5508449 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
Fga |
fibrinogen alpha chain |
treatment |
IDA |
|
RGD |
PMID:24523826 |
RGD:11040539 |
NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
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G |
Fkbp5 |
FKBP prolyl isomerase 5 |
|
ISO |
ClinVar Annotator: match by term: Asthma |
ClinVar |
|
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NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674
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G |
Foxp3 |
forkhead box P3 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27965764 PMID:29317916 PMID:28944907 PMID:27633092 |
RGD:38549365, RGD:38548920 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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G |
Gata3 |
GATA binding protein 3 |
|
ISO IEP |
|
RGD |
PMID:9949310 PMID:18186587 |
RGD:5128802, RGD:5128803 |
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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G |
Gc |
GC, vitamin D binding protein |
|
ISO |
protein, mRNA:increased expression:bronchoalveolar lavage fluid: |
RGD |
PMID:21169467 PMID:21169467 |
RGD:5509920, RGD:5509920 |
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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G |
Gsta1 |
glutathione S-transferase alpha 1 |
susceptibility |
ISO |
DNA:polymorphism:promoter: -69C>T (human) |
RGD |
PMID:20374258 |
RGD:5490988 |
NCBI chr 9:23,703,476...23,720,121
Ensembl chr 9:23,703,477...23,720,121
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G |
Gstm1 |
glutathione S-transferase mu 1 |
resistance susceptibility |
ISO |
DNA:deletion: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16870661 PMID:18988661 PMID:17651144 PMID:21051083 PMID:11075422 |
RGD:4142509, RGD:5490962, RGD:4140921 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstm3 |
glutathione S-transferase mu 3 |
|
ISO |
DNA:polymorphism |
RGD |
PMID:17550934 PMID:11470996 |
RGD:5135038, RGD:5135039 |
NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
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G |
Gstm5 |
glutathione S-transferase, mu 5 |
|
ISO |
DNA:polymorphism |
RGD |
PMID:11470996 PMID:17550934 |
RGD:5135038 RGD:5135039 |
NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553
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G |
Gsto2 |
glutathione S-transferase omega 2 |
susceptibility |
ISO |
DNA:polymorphism:exon:p. N142D (human) |
RGD |
PMID:20374258 |
RGD:5490988 |
NCBI chr 1:246,731,314...246,757,592
Ensembl chr 1:246,732,089...246,753,866
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G |
Gstp1 |
glutathione S-transferase pi 1 |
severity susceptibility disease_progression no_association |
ISO |
DNA:polymorphism:exon:p.I105V (rs1695) (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:exons:p.I105V (rs1695), A114V (rs1138272) (human) DNA:SNPs:intron,exon:(rs749174), (rs1138272)(human) DNA:SNPs: :p.I105V, p.A114V (human) DNA:polymorphism:exon:p.I105V (human) DNA:SNP: :p.A114V (human) |
CTD RGD |
PMID:11994713 PMID:16870661 PMID:18988661 PMID:24117884 PMID:29411558 PMID:10806136 PMID:15693909 PMID:20210814 PMID:20858151 PMID:18057098 PMID:16176403 PMID:18787219 PMID:18709160 More...
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RGD:4142526, RGD:5490999, RGD:5490991, RGD:5490985, RGD:4140951, RGD:4142519, RGD:4140946, RGD:4140947 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
DNA:deletion: : |
RGD |
PMID:15300848 PMID:21051083 PMID:11075422 |
RGD:4142539, RGD:5490962, RGD:4140921 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
|
ISO |
|
RGD |
PMID:20628202 |
RGD:5128851 |
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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G |
Havcr2 |
hepatitis A virus cellular receptor 2 |
|
ISO |
|
RGD |
PMID:17517968 |
RGD:5135525 |
NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
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G |
Hdac2 |
histone deacetylase 2 |
|
ISO |
mRNA:decreased expression:macrophage: |
RGD |
PMID:20538962 |
RGD:9590321 |
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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G |
Hdc |
histidine decarboxylase |
|
ISO |
associated with Rhinitis;DNA:SNP: :p.E644D (rs2073440) (human) |
RGD |
PMID:20608921 |
RGD:5128884 |
NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
treatment |
ISO |
|
RGD |
PMID:18160846 |
RGD:10402541 |
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
ISO |
|
RGD |
PMID:20084838 |
RGD:5508450 |
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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G |
Hmox1 |
heme oxygenase 1 |
severity |
ISO |
CTD Direct Evidence: marker/mechanism mRNA;protein:increased expression:Leukocytes, Mononuclear |
CTD RGD |
PMID:18048809 PMID:20596599 PMID:16196283 |
RGD:4145403, RGD:4145408 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Hnmt |
histamine N-methyltransferase |
no_association susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma, susceptibility to CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:10752634 PMID:10803682 PMID:16205835 PMID:17651147 PMID:25741868 PMID:15693910 PMID:21040557 PMID:17651147 PMID:10803682 PMID:16205835 More...
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RGD:5128888, RGD:5128883, RGD:5128885, RGD:5128881, RGD:5128887 |
NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
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G |
Hp |
haptoglobin |
|
ISO |
|
RGD |
PMID:21471098 PMID:21169467 |
RGD:5144151, RGD:5509920 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G |
Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11932298 |
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NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
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G |
Htr2a |
5-hydroxytryptamine receptor 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25322896 |
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NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO IEP |
mRNA:increased expression:aorta (mouse) CTD Direct Evidence: marker/mechanism protein:increased secretion:lung (human) protein:increased expression:lung, serum (rat) |
CTD RGD |
PMID:17014439 PMID:25003170 PMID:20400685 PMID:20205697 PMID:20953388 |
RGD:4145444, RGD:4145509, RGD:4145331 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Ifng |
interferon gamma |
treatment resistance |
ISO |
protein:increased expression:sputum |
RGD GAD |
PMID:20817868 PMID:12396623 PMID:15118671 PMID:19542437 PMID:20953328 |
RGD:4145651, RGD:10755706, RGD:1331525, RGD:5128479, RGD:4145525 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Ifngr1 |
interferon gamma receptor 1 |
|
ISO |
DNA: SNP: Leu467Pro |
RGD |
PMID:21737883 PMID:12851715 |
RGD:6480255, RGD:6480431 |
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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G |
Ifnl1 |
interferon, lambda 1 |
exacerbates |
ISO |
associated with common cold;mRNA:decreased expression:sputum (human) associated with common cold;protein:increased expression: nasal cavity (human) |
RGD |
PMID:25784275 PMID:22135341 |
RGD:126848770, RGD:126848775 |
NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
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G |
Ifnl3 |
interferon, lambda 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22295096 |
|
NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
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G |
Ikzf3 |
IKAROS family zinc finger 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25256354 |
|
NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591
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G |
Il10 |
interleukin 10 |
treatment susceptibility |
ISO IEP IGI |
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :-627C>A (human) protein:decreased expression:plasma |
CTD RGD |
PMID:29317916 PMID:20237464 PMID:21998459 PMID:12938145 PMID:20121766 PMID:20644177 PMID:20230687 PMID:20560982 More...
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RGD:4140471, RGD:11046261, RGD:4143221, RGD:4140451, RGD:4140459, RGD:4140421, RGD:5131623 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il12a |
interleukin 12A |
|
ISO |
|
RGD |
PMID:17056578 PMID:17548618 |
RGD:4438438, RGD:4373570 |
NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
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G |
Il12b |
interleukin 12B |
severity susceptibility |
ISO |
DNA:polymorphisms:introns: ClinVar Annotator: match by term: Asthma, susceptibility to DNA:polymorphisms:promoter, 3'utr: DNA:polymorphism:promoter |
ClinVar RGD |
PMID:15322986 PMID:15322986 PMID:16210052 PMID:12241719 |
RGD:1600043, RGD:4145438, RGD:4145428 |
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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Il13 |
interleukin 13 |
susceptibility severity no_association |
ISO IMP IDA IEP |
ClinVar Annotator: match by term: Asthma, susceptibility to CTD Direct Evidence: marker/mechanism associated with Dermatitis, Atopic;DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human) DNA:polymorphism: :-1512A>C, -1112C>T, 2044G>A (human) mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid protein:increased expression:serum DNA:polymorphism:cds:p.R130Q (human) DNA:polymorphisms:promoters,exon4: rs1881457, rs1800925, rs20541 (human) DNA:polymorphism: :p. R110Q (human) DNA:SNP: :c. -646A>G (human) DNA:polymorphism: :c. 1923C>T (human) protein:increased expression:sputum DNA:polymorphism:promoter:c. -1055C>T (human) DNA:polymorphisms: :rs20541, rs1295685(human) DNA:polymorphism:3'utr:c.4738G>A (human) DNA:polymorphism: :c.-1055C>T (human) DNA:polymorphism: :c. 2044G>A (human) |
ClinVar OMIM CTD RGD |
PMID:10699178 PMID:11588017 PMID:11709756 PMID:12847555 PMID:12928861 PMID:15356556 PMID:15483090 PMID:15711639 PMID:15879126 PMID:22867017 PMID:25741868 PMID:16120094 PMID:23317483 PMID:17006604 PMID:12604708 PMID:20819635 PMID:18222984 PMID:16393274 PMID:11758895 PMID:18258919 PMID:11678850 PMID:19796199 PMID:12091879 PMID:15315330 PMID:17303794 PMID:19575932 PMID:18328894 PMID:16024972 PMID:20484924 PMID:11588017 PMID:20198887 PMID:18341619 More...
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RGD:4206706, RGD:8549509, RGD:4892639, RGD:2301686, RGD:4145453, RGD:2307110, RGD:4145508, RGD:4763153, RGD:4145639, RGD:4763761, RGD:4145601, RGD:4145664, RGD:4321828, RGD:4146241, RGD:4145775, RGD:4145777, RGD:4220633, RGD:4145534, RGD:4765128, RGD:4145593, RGD:4145776 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il13ra1 |
interleukin 13 receptor subunit alpha 1 |
no_association |
ISO |
mRNA:increased expression:bronchus DNA:polymorphisms:promoter, 3' utr:-281T>G, 1365A>G (human) DNA:polymorphism: :1398A>G (human) DNA:polymorphism: :1050C>T (human) |
RGD |
PMID:20383033 PMID:17392323 PMID:18480254 PMID:17006604 PMID:10686479 PMID:11714828 More...
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RGD:4892646, RGD:4892650, RGD:4892647, RGD:4892639, RGD:4892655, RGD:4892654 |
NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681 Ensembl chr11:115,348,860...115,408,681
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G |
Il13ra2 |
interleukin 13 receptor subunit alpha 2 |
|
ISO |
mRNA:increased expression:bronchus protein:increased expression:serum |
RGD |
PMID:20383033 PMID:21462799 PMID:17885690 |
RGD:4892646, RGD:8549521, RGD:4892649 |
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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G |
Il15 |
interleukin 15 |
no_association |
ISO |
DNA:SNPs: :multiple (human) |
RGD |
PMID:19133918 PMID:16629787 PMID:11160248 PMID:15843549 PMID:15131572 |
RGD:5000760, RGD:4984421, RGD:4990462, RGD:5000757, RGD:5000758 |
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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G |
Il16 |
interleukin 16 |
no_association severity |
ISO |
DNA:SNP:promoter:-295T>C (human) associated with Rhinitis;protein:increased expression:respiratory system fluid/secretion protein:increased expression:serum |
RGD |
PMID:10585533 PMID:16387589 PMID:15784111 PMID:16734115 PMID:12872394 |
RGD:5024937, RGD:5024934, RGD:5024935, RGD:5024928, RGD:5024930 |
NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
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Il17a |
interleukin 17A |
susceptibility |
IEP ISO |
mRNA,protein:increased expression:Leukocytes, Mononuclear, lung, serum protein:increased expression:sputum protein:increased expression:alveolar macrophage DNA:SNP:promoter:rs2275913 (human) |
RGD |
PMID:18060619 PMID:20351038 PMID:15730730 PMID:18941201 PMID:20437253 |
RGD:4839043, RGD:4888527, RGD:4889114, RGD:4889152, RGD:4889139 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il17rb |
interleukin 17 receptor B |
|
ISO |
associated with Picornaviridae Infections |
RGD |
PMID:25273095 |
RGD:39128256 |
NCBI chr16:5,180,431...5,194,125
Ensembl chr16:5,180,432...5,194,125
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G |
Il18 |
interleukin 18 |
severity susceptibility disease_progression |
ISO |
DNA:SNPs:Promoter:c. -607C>A (rs1946518), -137G/C (rs187238) (human) DNA:SNP:promoter:c.and -137G>C (rs187238)(human) protein:increased expression:serum DNA:SNP:promoter: c.-380C>G (rs5744247)(human) DNA:polymorphism: :c. -105A>C (human) |
RGD |
PMID:17767553 PMID:16433859 PMID:18826499 PMID:11174201 PMID:20497957 PMID:19745201 PMID:18200581 More...
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RGD:4889585, RGD:4889923, RGD:4889908, RGD:4889863, RGD:4889898, RGD:4889900, RGD:4889910 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il18r1 |
interleukin 18 receptor 1 |
|
ISO |
DNA:SNP: :rs3771166 (human) DNA:SNPs: :multiple (human) |
RGD |
PMID:19910030 PMID:20860503 PMID:18382474 PMID:11972614 PMID:18774397 |
RGD:5024945, RGD:5024942, RGD:5024947, RGD:5024948, RGD:5024946 |
NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715
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Il19 |
interleukin 19 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:15557163 |
RGD:5037236 |
NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
DNA:polymorphisms: : |
RGD |
PMID:18763028 |
RGD:4142802 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
susceptibility |
ISO |
DNA:polymorphism: :-511C>T (human) CTD Direct Evidence: marker/mechanism protein:decreased expression:neutrophil |
CTD RGD |
PMID:9176529 PMID:18926055 PMID:19842845 PMID:19684087 |
RGD:4142864, RGD:4142830, RGD:4142836 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rl1 |
interleukin 1 receptor-like 1 |
susceptibility severity |
ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism DNA:SNP: :rs1420101 (human) DNA:SNPs:intron:rs1420089, rs1861245,rs1946131 (human) DNA:SNP: :rs10197862 (human) DNA:SNP: :rs1041973 (human) |
CTD RGD |
PMID:19198610 PMID:21150878 PMID:21804549 PMID:24241537 PMID:27472835 PMID:17623648 PMID:17407196 PMID:19179489 PMID:19198610 PMID:19852851 PMID:21150878 PMID:21281963 PMID:11463601 More...
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RGD:5144235, RGD:5144245, RGD:5144244, RGD:5144243, RGD:5144242, RGD:5144240, RGD:5144239, RGD:5144237 |
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il1rn |
interleukin 1 receptor antagonist |
susceptibility severity |
ISO |
DNA:SNP: :rs2234678 (human) CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple (human) DNA:SNPs: :rs447713, rs3087271 (human) protein:increased expression:plasma DNA, protein:repeat, decreased expression (human) DNA:polymorphism:intron (human) |
CTD RGD |
PMID:9176529 PMID:17107994 PMID:15020290 PMID:16409203 PMID:16724092 PMID:10843772 PMID:11027520 PMID:18926055 PMID:18763028 More...
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RGD:4143208, RGD:4143216, RGD:4143163, RGD:4143209, RGD:4143225, RGD:4143224, RGD:4142864, RGD:4142802 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il2 |
interleukin 2 |
susceptibility |
ISO |
DNA:SNP:promoter:rs2069762(human) |
RGD |
PMID:20926789 PMID:16333313 |
RGD:4889118, RGD:8663473 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il21 |
interleukin 21 |
|
ISO |
DNA:SNP:exon:5250C>T (human) |
RGD |
PMID:18802358 |
RGD:5147396 |
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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G |
Il22 |
interleukin 22 |
treatment severity |
ISO IMP |
mRNA:increased expression:blood, mononuclear cell protein:increased expression:serum |
RGD |
PMID:21789181 PMID:21998459 PMID:21535180 PMID:21297073 |
RGD:5147401, RGD:11046261, RGD:5147409, RGD:5147403 |
NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186
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G |
Il23r |
interleukin 23 receptor |
|
ISO |
|
RGD |
PMID:19935773 |
RGD:5037240 |
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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G |
Il25 |
interleukin 25 |
|
ISO |
mRNA, protein:increased expression:lung |
RGD |
PMID:25273095 |
RGD:39128256 |
NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893
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G |
Il27 |
interleukin 27 |
susceptibility treatment |
ISO |
DNA:SNP: :g.-964A>G (human) protein:increased expression:sputum |
RGD |
PMID:17318299 PMID:26595888 PMID:17878337 PMID:19542437 PMID:20817868 |
RGD:5128485, RGD:11076728, RGD:5128491, RGD:5128479, RGD:4145651 |
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Il27ra |
interleukin 27 receptor subunit alpha |
|
ISO |
|
RGD |
PMID:16081811 |
RGD:5128496 |
NCBI chr19:24,109,963...24,121,977
Ensembl chr19:24,109,972...24,121,938
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G |
Il2ra |
interleukin 2 receptor subunit alpha |
|
IDA ISO |
|
RGD |
PMID:17351063 PMID:20525707 PMID:21377197 |
RGD:2325990, RGD:5147445, RGD:5147437 |
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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G |
Il2rb |
interleukin 2 receptor subunit beta |
|
ISO |
DNA:SNP: :rs2284033 (human) |
RGD |
PMID:20860503 PMID:18641329 |
RGD:5024942, RGD:5147447 |
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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G |
Il3 |
interleukin 3 |
susceptibility |
ISO |
DNA:SNP: :rs40401(human) DNA:polymorphism:cds:+79T>C(S27P)(human) |
RGD |
PMID:24684517 PMID:15372320 |
RGD:13506914, RGD:13506916 |
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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G |
Il33 |
interleukin 33 |
treatment severity |
ISO |
CTD Direct Evidence: marker/mechanism associated with viral pneumonia; associated with fungal infectious disease |
CTD RGD |
PMID:19198610 PMID:21804549 PMID:24241537 PMID:27472835 PMID:29067999 PMID:28947081 PMID:25746970 More...
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RGD:39939002, RGD:39938968 |
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Il4 |
interleukin 4 |
treatment no_association |
ISO IEP |
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism mRNA, protein:increase expression:leukocyte, serum protein:increased expression:lung DNA:SNP: :589C>T (human) protein:increased expression:respiratory system fluid/secretion mRNA:increased expression:lung, spleen |
CTD RGD |
PMID:18357729 PMID:21103062 PMID:24946644 PMID:24450480 PMID:18211752 PMID:20524005 PMID:21354484 PMID:21364926 PMID:21375458 More...
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RGD:4889866, RGD:10402799, RGD:10402791, RGD:2317290, RGD:5128560, RGD:5128502, RGD:5128500, RGD:5128557 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il4r |
interleukin 4 receptor |
susceptibility severity disease_progression |
ISO ISS |
DNA:mutation:cds:p.Q576R (mouse) OMIM:600807 DNA:SNPs: :multiple DNA:polymorphism:cds:p.I50V (human) DNA:SNPs:cds:p. I75V, Q576R (human) DNA:polymorphism::-1902G/A (human) protein:increased secretion:plasma|DNA:polymorphism:promoter:c.-3223C>T (human) DNA:polymorphism:cds:p.Q576R (human) DNA:SNPs:cds:p.E375A, Q551R (human) DNA:polymorphism:cds:p. S478P (human) DNA:polymorphism:cds:p.Q551R (human) |
MouseDO RGD |
PMID:19770271 PMID:17823973 PMID:18425216 PMID:12133990 PMID:20868478 PMID:11398072 PMID:15479272 PMID:12940513 PMID:17170387 PMID:11709756 PMID:20605987 PMID:20953944 PMID:16917945 PMID:17586032 More...
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RGD:4890003, RGD:4890347, RGD:4890346, RGD:4890404, RGD:4890387, RGD:4890406, RGD:4890351, RGD:4890402, RGD:4890349, RGD:4890024, RGD:5128553, RGD:5128514, RGD:4890352, RGD:4890348 |
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il5 |
interleukin 5 |
treatment disease_progression |
IDA ISO IEP IMP |
CTD Direct Evidence: marker/mechanism protein:increased expression:lungs, respiratory system fluid/secretion protein: increased levels: sputum protein:increased expression:respiratory system fluid/secretion DNA:polymorphism:promoter:-703C>T (human) |
CTD RGD |
PMID:7540862 PMID:23266719 PMID:17074272 PMID:25008888 PMID:11159041 PMID:22085848 PMID:22186238 PMID:15626484 PMID:15502111 PMID:9182686 PMID:18629290 PMID:9493449 PMID:19947994 More...
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RGD:4145461, RGD:11354973, RGD:5687189, RGD:5687144, RGD:5687140, RGD:4890947, RGD:4890948, RGD:4890963, RGD:4890940, RGD:4890962, RGD:4890938 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Il5ra |
interleukin 5 receptor subunit alpha |
|
ISO |
DNA:SNP: :c.25091G>A (human) DNA:SNPs (human) |
RGD |
PMID:20513521 PMID:20592918 PMID:17276963 PMID:10848907 PMID:10224351 PMID:16217591 More...
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RGD:5128625, RGD:5128614, RGD:5128617, RGD:5128627, RGD:5128623, RGD:5128626 |
NCBI chr 4:139,630,652...139,664,593
Ensembl chr 4:139,632,066...139,668,544
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Il6 |
interleukin 6 |
|
ISO IEP |
CTD Direct Evidence: marker/mechanism associated with Hypersensitivity;protein:increased expression:sputum protein:increased expression:lung |
CTD RGD |
PMID:29902480 PMID:21115736 PMID:20840469 PMID:20816188 PMID:20658762 |
RGD:5128630, RGD:4143265, RGD:4143266, RGD:4143271 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il6r |
interleukin 6 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29902480 PMID:17496315 PMID:21115736 |
RGD:5128662, RGD:5128630 |
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
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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 chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
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Il9r |
interleukin 9 receptor |
|
ISO |
|
RGD |
PMID:10629460 |
RGD:5128704 |
NCBI chr10:15,431,706...15,444,144
Ensembl chr10:15,431,706...15,441,990
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G |
Irak3 |
interleukin-1 receptor-associated kinase 3 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 5 |
ClinVar OMIM |
PMID:17503328 |
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NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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Irf1 |
interferon regulatory factor 1 |
no_association susceptibility |
ISO |
DNA:polymorphisms:promoter, cds:-300G>T, 4396A>G, 6355G>A (human) protein:increased expression:respiratory tract epithelium DNA:repeat:intron (human) |
RGD |
PMID:11069564 PMID:10225979 PMID:16961714 |
RGD:5128726, RGD:5128723, RGD:5128724 |
NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
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Irf3 |
interferon regulatory factor 3 |
|
ISO |
|
RGD |
PMID:20673978 |
RGD:5128793 |
NCBI chr 1:95,479,966...95,484,926
Ensembl chr 1:95,479,821...95,484,935
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Itgb3 |
integrin subunit beta 3 |
|
ISO |
DNA:SNPs: : |
RGD |
PMID:17556058 |
RGD:5037230 |
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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G |
Itgb6 |
integrin subunit beta 6 |
|
ISS |
OMIM:600807 |
MouseDO |
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NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671
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Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
|
IDA |
|
RGD |
PMID:21777465 |
RGD:5147661 |
NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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Kdr |
kinase insert domain receptor |
|
ISO |
associated with Rhinitis,Allergic,Seasonal;protein:increased expression:nasal cavity of mucosa: |
RGD |
PMID:20921519 PMID:17651148 |
RGD:5684385, RGD:8551771 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Kif3a |
kinesin family member 3a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
|
NCBI chr10:37,725,930...37,761,183
Ensembl chr10:37,725,970...37,759,191
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G |
Krt19 |
keratin 19 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15478392 |
|
NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,066,802...85,171,799
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Lep |
leptin |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:19705789 |
RGD:5128781 |
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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G |
Lgals3 |
galectin 3 |
treatment |
ISO |
|
RGD |
PMID:16424226 |
RGD:9685213 |
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
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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 chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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G |
Lta4h |
leukotriene A4 hydrolase |
|
IEP |
mRNA:increased expression:lung, cerebral cortex (rat) |
RGD |
PMID:15715933 |
RGD:2316607 |
NCBI chr 7:27,969,796...28,001,600
Ensembl chr 7:27,969,789...28,001,600
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
associated with Bronchiolitis;DNA:polymorphism:exon: DNA:SNP:cds:p.G54D(human) |
RGD |
PMID:22512728 PMID:22674410 |
RGD:8693709, RGD:12910828 |
NCBI chr 1:228,016,439...228,024,736
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Mefv |
MEFV innate immunity regulator, pyrin |
susceptibility |
ISO |
DNA:mutations:exons |
RGD |
PMID:18219832 |
RGD:5129186 |
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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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 chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24469321 |
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NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp10 |
matrix metallopeptidase 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16926187 |
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NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO IEP |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism protein:increased expression:lung DNA:SNP: : rs2664538(human) mRNA, protein:increased expression:lung |
CTD RGD |
PMID:11742282 PMID:15131573 PMID:21439806 PMID:19361849 PMID:20181264 PMID:16191269 PMID:19940022 More...
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RGD:5129204, RGD:5129687, RGD:5130859, RGD:2325953, RGD:5129522 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mpo |
myeloperoxidase |
susceptibility |
ISO |
DNA:polymorphism: :−463G > A (human) protein:increased expression:serum |
RGD |
PMID:19544176 PMID:10731862 |
RGD:5130989, RGD:5130994 |
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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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 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310
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G |
Mthfr |
methylenetetrahydrofolate reductase |
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ISO |
DNA:transition:cds:g.677C>T (human) |
RGD |
PMID:20456312 |
RGD:4891145 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Muc1 |
mucin 1, cell surface associated |
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ISO |
protein:increased expression:serum |
RGD |
PMID:11802251 |
RGD:5131281 |
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
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ISO |
associated with hypersensitivity |
RGD |
PMID:11062147 PMID:14594655 |
RGD:5131178, RGD:7349354 |
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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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 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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G |
Muc5b |
mucin 5B, oligomeric mucus/gel-forming |
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ISO |
protein:altered expression:sputum |
RGD |
PMID:11802783 PMID:11587997 |
RGD:5131252, RGD:7364763 |
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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G |
Myb |
MYB proto-oncogene, transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19198610 |
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NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
ameliorates |
ISO |
|
RGD |
PMID:26882889 |
RGD:11531666 |
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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G |
Mylk |
myosin light chain kinase |
|
ISO |
|
RGD |
PMID:17472811 |
RGD:4891492 |
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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G |
Nat2 |
N-acetyltransferase 2 |
susceptibility |
ISO |
DNA:polymorphisms: : Asthma, Aspirin-Induced; DNA:polymorphism: : |
RGD |
PMID:16924569 PMID:20602614 |
RGD:5131606, RGD:5131600 |
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
severity |
ISO |
mRNA:increased expression:bronchoalveolar lavage cell, peripheral blood mononuclear cell (human) |
RGD |
PMID:21514635 |
RGD:6893376 |
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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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 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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G |
Ngfr |
nerve growth factor receptor |
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ISO |
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RGD |
PMID:16603479 PMID:12540484 |
RGD:5144070, RGD:5144072 |
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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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 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404
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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 chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Nos1 |
nitric oxide synthase 1 |
susceptibility |
ISO |
DNA:repeats:exon DNA:repeats:intron DNA:repeats: : |
RGD |
PMID:10833424 PMID:14767694 PMID:10673365 PMID:20609134 |
RGD:5132860, RGD:5132615, RGD:5132869, RGD:5132863 |
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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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 RGD |
PMID:19800904 PMID:17161822 PMID:21847581 PMID:18714530 PMID:18254476 PMID:17177683 PMID:17189532 PMID:20842520 PMID:16703578 PMID:16540403 PMID:20841959 More...
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RGD:4891927, RGD:5509073, RGD:4891508, RGD:4891910, RGD:4891925, RGD:4891924, RGD:4891419, RGD:4891953, RGD:4891957, RGD:4891480 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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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 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Npsr1 |
neuropeptide S receptor 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 2 |
OMIM CTD ClinVar RGD |
PMID:15073379 PMID:15710598 PMID:15764725 PMID:16926187 PMID:17702965 PMID:18285428 PMID:15073379 More...
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RGD:4891923, RGD:4891922, RGD:4891921 |
NCBI chr 8:22,606,946...22,831,558
Ensembl chr 8:22,606,946...22,831,558
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G |
Npy |
neuropeptide Y |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9731035 |
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NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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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 RGD |
PMID:20049212 PMID:19027876 PMID:19591959 |
RGD:5135006, RGD:5135005 |
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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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 chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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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 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
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G |
Ntf4 |
neurotrophin 4 |
|
ISO |
protein:increased expression:lung, serum |
RGD |
PMID:17497413 |
RGD:4891068 |
NCBI chr 1:95,893,560...95,896,391
Ensembl chr 1:95,893,457...95,897,243
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G |
Ntrk1 |
neurotrophic receptor tyrosine kinase 1 |
|
ISO IEP |
mRNA:increased expression:lung: |
RGD |
PMID:20934630 PMID:16708804 |
RGD:5684766, RGD:5684772 |
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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G |
Ormdl3 |
ORMDL sphingolipid biosynthesis regulator 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21150878 PMID:25256354 |
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NCBI chr10:83,590,052...83,596,035
Ensembl chr10:83,590,071...83,598,620
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G |
P2ry12 |
purinergic receptor P2Y12 |
|
ISO |
|
RGD |
PMID:22010907 PMID:19822647 |
RGD:6480532, RGD:6480533 |
NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
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G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
treatment |
ISO |
protein:increased activation:lung, blood, mononuclear cell CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18261157 PMID:12594058 PMID:26205779 PMID:26205779 |
RGD:5683910, RGD:11073727, RGD:11073727 |
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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G |
Pdcd1 |
programmed cell death 1 |
treatment |
ISO |
associated with Chlamydia pneumonia |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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G |
Pde4b |
phosphodiesterase 4B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
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NCBI chr 5:116,799,819...117,369,155
Ensembl chr 5:116,799,971...117,367,696
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G |
Pde4d |
phosphodiesterase 4D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19426955 PMID:21611147 |
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NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884
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G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO IMP |
protein: increased expression |
RGD |
PMID:21216974 PMID:21216974 |
RGD:6483071, RGD:6483071 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Pgf |
placental growth factor |
|
ISO |
|
RGD |
PMID:22268141 |
RGD:6483605 |
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
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ISO |
|
RGD |
PMID:18754810 |
RGD:6482695 |
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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G |
Pin1 |
peptidylprolyl cis/trans isomerase, NIMA-interacting 1 |
|
IMP |
|
RGD |
PMID:18188456 |
RGD:8693422 |
NCBI chr 8:19,189,408...19,200,785
Ensembl chr 8:19,189,373...19,200,785
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G |
Pla2g4a |
phospholipase A2 group 4A |
|
IEP |
|
RGD |
PMID:15557087 |
RGD:1642462 |
NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
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G |
Pla2g7 |
phospholipase A2 group VII |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10733466 PMID:10733466 |
RGD:1581025 |
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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G |
Plau |
plasminogen activator, urokinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21912604 PMID:18519237 |
RGD:4892037 |
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
Ppp2ca |
protein phosphatase 2 catalytic subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22205926 |
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NCBI chr10:36,358,110...36,377,864
Ensembl chr10:36,358,101...36,377,862
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G |
Prf1 |
perforin 1 |
|
ISO IDA |
|
RGD |
PMID:22250087 PMID:21426642 |
RGD:6482815, RGD:6482818 |
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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G |
Prg2 |
proteoglycan 2, pro eosinophil major basic protein |
severity disease_progression no_association |
ISO |
mRNA:increased expression:eosinophil: associated with cough;protein:increased expression:sputum: associated with viral infection;mRNA:increased expression:sputum: |
RGD |
PMID:16982448 PMID:22022864 PMID:24450586 PMID:11067904 |
RGD:13506941, RGD:13506944, RGD:13506943, RGD:13506942 |
NCBI chr 3:70,062,535...70,066,102
Ensembl chr 3:70,062,535...70,066,101
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G |
Prmt1 |
protein arginine methyltransferase 1 |
|
IEP |
mRNA:increased expression:lung |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr 1:95,458,853...95,468,176
Ensembl chr 1:95,458,850...95,468,345
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G |
Prmt2 |
protein arginine methyltransferase 2 |
|
IEP |
mRNA:increased expression:lung, spleen |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr20:12,394,748...12,420,643
Ensembl chr20:12,394,798...12,420,643
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G |
Prmt3 |
protein arginine methyltransferase 3 |
|
IEP |
mRNA:increased expression:lung |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr 1:99,492,712...99,581,774
Ensembl chr 1:99,492,724...99,579,435
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G |
Prmt5 |
protein arginine methyltransferase 5 |
|
IEP |
mRNA:increased expression:lung, spleen |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
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G |
Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
treatment |
ISO |
|
RGD |
PMID:26381519 |
RGD:11099992 |
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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G |
Pten |
phosphatase and tensin homolog |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17982072 |
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NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
Ptgdr |
prostaglandin D2 receptor |
susceptibility |
ISO |
|
OMIM |
|
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NCBI chr15:17,360,304...17,367,679
Ensembl chr15:17,360,304...17,367,679
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G |
Ptgdr2 |
prostaglandin D2 receptor 2 |
|
ISO |
Aspirin exacerbated asthma CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:27103662 PMID:19796209 PMID:19392992 PMID:18757520 |
RGD:5135020, RGD:5135019, RGD:5135018 |
NCBI chr 1:207,585,088...207,590,275
Ensembl chr 1:207,587,917...207,589,213
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G |
Ptger3 |
prostaglandin E receptor 3 |
treatment |
IMP |
|
RGD |
PMID:23221044 |
RGD:10043366 |
NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
susceptibility severity |
ISO IEP |
mRNA:increased expression:lung DNA:SNP: :8473T>C (human) mRNA, protein:increased expression:lung: DNA:SNP: :rs689465 (human) |
RGD |
PMID:19878559 PMID:15316498 PMID:17573729 PMID:18097056 PMID:18489027 PMID:19342146 PMID:19862936 More...
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RGD:5135514, RGD:5143931, RGD:5143923, RGD:5135534, RGD:5135526, RGD:5135522, RGD:5135515 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
Rad50 |
RAD50 double strand break repair protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24241537 |
|
NCBI chr10:37,809,353...37,861,309
Ensembl chr10:37,808,726...37,861,396
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G |
Rhoa |
ras homolog family member A |
|
IEP |
|
RGD |
PMID:18391481 |
RGD:2298885 |
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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G |
Rnase3 |
ribonuclease A family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8874658 PMID:12153692 PMID:12587966 |
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NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790
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G |
RT1-B |
RT1 class II, locus B |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:21814517 |
RGD:13506911 |
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G |
RT1-Ba |
RT1 class II, locus Ba |
|
ISO |
DNA:polymorphisms (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism (human) |
CTD RGD |
PMID:10792356 PMID:12890388 PMID:10051703 PMID:11802952 PMID:19052351 |
RGD:5147799, RGD:1331670, RGD:5147831, RGD:5147617 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility disease_progression no_association |
ISO |
Alternaria sensitive asthma DNA:polymorphisms: : CTD Direct Evidence: marker/mechanism DNA:polymorphisms (human) |
CTD RGD |
PMID:10792356 PMID:20298583 PMID:20159242 PMID:20214848 PMID:23331206 PMID:11802952 PMID:12890388 PMID:19052351 More...
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RGD:4144113, RGD:13506913, RGD:4144181, RGD:13506906, RGD:5147831, RGD:5147799, RGD:5147617 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Da |
RT1 class II, locus Da |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:20159242 |
RGD:13506913 |
NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility no_association severity |
ISO |
DNA:polymorphisms: : CTD Direct Evidence: marker/mechanism DNA:polymorphism (human) |
CTD RGD |
PMID:16792590 PMID:19528258 PMID:20159242 PMID:23331206 PMID:10051703 PMID:19439981 PMID:20486920 PMID:20214848 More...
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RGD:4144196, RGD:13506913, RGD:13506906, RGD:1331670, RGD:5147663, RGD:5147607, RGD:4144181 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
RT1-Ha |
RT1 class II, locus Ha |
susceptibility |
ISO |
DNA:polymorphism: : |
RGD |
PMID:21814517 |
RGD:13506911 |
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
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G |
RT1-Hb-ps1 |
RT1 class II, locus Hb, pseudogene 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:polymorphisms: : |
CTD RGD |
PMID:16792590 PMID:17956852 PMID:21814517 |
RGD:13506911 |
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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G |
RT1-M3-1 |
RT1 class Ib, locus M3, gene 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD OMIM RGD |
PMID:15611928 |
RGD:5144118 |
NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117
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G |
Runx1 |
RUNX family transcription factor 1 |
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ISO |
DNA:SNPs: :multiple |
RGD |
PMID:21803869 |
RGD:6482835 |
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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G |
Runx3 |
RUNX family transcription factor 3 |
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ISS |
OMIM:600807 |
MouseDO |
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NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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G |
Scgb1a1 |
secretoglobin family 1A member 1 |
susceptibility |
IEP ISO |
mRNA,protein:decreased expression:bronchial alveolar lavage fluid, lung: ClinVar Annotator: match by term: Asthma, susceptibility to associated with allergic rhinitis; DNA:SNP:exon:38G>A (human) protein:decreased expression:serum |
ClinVar RGD |
PMID:9550363 PMID:9643286 PMID:12100044 PMID:12921604 PMID:21255142 PMID:15467329 More...
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RGD:5144052, RGD:5144226, RGD:5144148 |
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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G |
Scgb3a2 |
secretoglobin, family 3A, member 2 |
susceptibility severity no_association |
ISO |
DNA:SNP:promoter:-112G>A (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Asthma, susceptibility to mRNA,protein:decreased expression:;lung protein:increased expression:sputum |
CTD OMIM ClinVar RGD |
PMID:11813133 PMID:11813133 PMID:15531759 PMID:16456148 PMID:17218572 PMID:18089940 PMID:18201431 More...
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RGD:5144229, RGD:5128690, RGD:5144233, RGD:5144232, RGD:5144231, RGD:5144230 |
NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762
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G |
Sell |
selectin L |
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ISO |
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RGD |
PMID:21437035 PMID:21515793 |
RGD:5685685, RGD:5685696 |
NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
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G |
Serpina1 |
serpin family A member 1 |
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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 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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G |
Serpine1 |
serpin family E member 1 |
susceptibility no_association severity |
IEP ISO |
protein:increased activity, increased expression:plasma, lung DNA:polymorphism:promoter:rs1799768 (human) protein:increased expression:plasma |
RGD |
PMID:18594148 PMID:19063817 PMID:19604112 PMID:19703828 |
RGD:4144836, RGD:4144832, RGD:4144833, RGD:4144831 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Sftpa1 |
surfactant protein A1 |
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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 chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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G |
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 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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G |
Sftpc |
surfactant protein C |
susceptibility |
ISO |
mRNA, protein:decreased expression:lung protein:increased expression:lung DNA:polymorphism: :p.A53T (human) |
RGD |
PMID:11472974 PMID:16629790 PMID:19910179 |
RGD:4143465, RGD:4143462, RGD:4144063 |
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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G |
Sftpd |
surfactant protein D |
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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 chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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G |
Slc11a1 |
solute carrier family 11 member 1 |
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ISO |
|
RGD |
PMID:12847242 |
RGD:5684966 |
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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G |
Slc18a3 |
solute carrier family 18 member A3 |
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IEP |
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RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr16:7,713,630...7,716,491
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G |
Slc22a1 |
solute carrier family 22 member 1 |
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IEP |
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RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
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G |
Slc5a7 |
solute carrier family 5 member 7 |
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IEP |
mRNA:decreased expression:lung |
RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
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G |
Slc6a4 |
solute carrier family 6 member 4 |
susceptibility |
ISO |
DNA:repeat:intron (human) |
RGD |
PMID:19806585 |
RGD:4889460 |
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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G |
Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22867017 |
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NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
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RGD |
PMID:15743779 |
RGD:1581231 |
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Sprr2b |
small proline rich protein 2B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
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NCBI chr 2:177,852,824...177,853,096
Ensembl chr 2:177,852,824...177,853,096
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G |
Stat4 |
signal transducer and activator of transcription 4 |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:28807506 PMID:18211752 |
RGD:2317290 |
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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G |
Stat6 |
signal transducer and activator of transcription 6 |
treatment |
IEP IDA |
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RGD |
PMID:19087723 PMID:16083555 |
RGD:7244151, RGD:7244153 |
NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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G |
Tac1 |
tachykinin, precursor 1 |
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ISO |
protein:increased expression:lung |
RGD |
PMID:11031342 |
RGD:5147836 |
NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
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G |
Tacr1 |
tachykinin receptor 1 |
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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 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
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G |
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 chr20:30,208,907...30,223,446
Ensembl chr20:30,208,907...30,223,446
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G |
Tap1 |
transporter 1, ATP binding cassette subfamily B member |
susceptibility |
ISO |
DNA:polymorphism: : |
RGD |
PMID:12640628 |
RGD:5147845 |
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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G |
Tbx21 |
T-box transcription factor 21 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:600807 |
CTD MouseDO |
PMID:15806396 |
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NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
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G |
Tbxa2r |
thromboxane A2 receptor |
susceptibility severity |
ISO |
ClinVar Annotator: match by term: Asthma DNA:polymorphism:cds:924T>C(human) |
ClinVar RGD |
PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:15118671 PMID:12000493 PMID:15805995 More...
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RGD:1331525, RGD:11059535, RGD:11059534 |
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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G |
Tgfb1 |
transforming growth factor, beta 1 |
onset no_association |
ISO IEP |
DNA:SNP: :-509C>T (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:promoter, exon:multiple (human) DNA:SNP:cds:915G>C (human) mRNA:increased expression:lung protein:increased expression:serum DNA:polymorphisms: :multiple (human) DNA:polymorphism: :-509C>T (human) |
CTD RGD |
PMID:16365456 PMID:19138248 PMID:17673695 PMID:18366906 PMID:19096005 PMID:19620629 PMID:19046298 PMID:20485865 PMID:19317336 PMID:19136038 PMID:18711258 PMID:19222424 PMID:19533439 More...
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RGD:4145295, RGD:4145280, RGD:4145143, RGD:4145132, RGD:4145142, RGD:4145113, RGD:4145139, RGD:4145144, RGD:4143443, RGD:4145299, RGD:4145297 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Thbd |
thrombomodulin |
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ISO |
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RGD |
PMID:20709825 |
RGD:5684984 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16926187 |
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NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839
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G |
Tlr1 |
toll-like receptor 1 |
susceptibility |
ISO |
DNA:SNP (human) |
RGD |
PMID:18547625 |
RGD:4889528 |
NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
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G |
Tlr10 |
toll-like receptor 10 |
susceptibility |
ISO |
DNA:SNP (human) |
RGD |
PMID:18547625 |
RGD:4889528 |
NCBI chr14:43,400,843...43,414,056
Ensembl chr14:43,406,217...43,413,917
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G |
Tlr2 |
toll-like receptor 2 |
susceptibility severity |
ISO |
DNA:SNP: :596T>C (human) DNA:polymorphism:cds:p.R753Q(human) DNA:SNP: :rs3804100 (human) DNA:SNP: :rs7656411 (human) DNA:SNP: :rs4696480 (human) |
RGD |
PMID:19096003 PMID:22402138 PMID:19148143 PMID:18202345 PMID:20815312 PMID:20685742 PMID:18787777 More...
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RGD:4144228, RGD:7800732, RGD:2312679, RGD:4145343, RGD:4145352, RGD:4144171, RGD:4145334 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr3 |
toll-like receptor 3 |
no_association |
ISO IMP |
Asthma, Virus-Induced; mRNA:increased expression:sputum (human) DNA:snp:cds:p.L412F (human) |
RGD |
PMID:21129050 PMID:17434873 PMID:14987294 PMID:17610940 PMID:21364926 |
RGD:5129226, RGD:5129478, RGD:5129493, RGD:5129475, RGD:5128500 |
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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G |
Tlr4 |
toll-like receptor 4 |
susceptibility no_association severity |
ISO |
DNA:Polymorphism:cds:p.D299G (human) DNA:SNPs:: protein:decreased expression:leukocytes, mononuclear DNA:SNPs: :rs10983755, rs1927914 (human) DNA:polymorphisms:cds:c.896A>G, 1196C>T (human) |
RGD |
PMID:15356557 PMID:20628601 PMID:20685742 PMID:19067129 PMID:19330007 PMID:19159017 PMID:16266379 More...
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RGD:4144817, RGD:4144176, RGD:4144171, RGD:4144190, RGD:4144141, RGD:4144188, RGD:4144198 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tlr6 |
toll-like receptor 6 |
susceptibility |
ISO |
DNA:SNP (human) DNA:SNP: :p.S249P (human) |
RGD |
PMID:18547625 PMID:15266299 |
RGD:4889528, RGD:4889538 |
NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
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G |
Tlr9 |
toll-like receptor 9 |
no_association susceptibility severity |
ISO |
DNA:SNP:promoter:g.-1237T>C rs5743836 (human) DNA:snp:promoter:g.-1237T>C rs5743836 (human) protein:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:21324137 PMID:18312481 PMID:20016192 PMID:20072849 |
RGD:5130712, RGD:4144208, RGD:5129104, RGD:4889523 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Tnc |
tenascin C |
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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 RGD |
PMID:16115819 PMID:17125141 PMID:18305139 PMID:9310019 PMID:16115819 |
RGD:4889565, RGD:4889589, RGD:4889572, RGD:4889569 |
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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G |
Tnf |
tumor necrosis factor |
susceptibility no_association |
ISO |
DNA:polymorphism:promoter: c. -308A>G (human) ClinVar Annotator: match by term: Asthma, susceptibility to CTD Direct Evidence: marker/mechanism associated with obesity; DNA:polymorphism:promoter DNA:polymorphisms:: rs1799964, rs1799724 (human) DNA:polymorphisms: : associated with nasal polys; protein:increased expression:nose DNA:polymorphism:promoter:c.-863C > A (human) |
ClinVar OMIM CTD RGD |
PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 PMID:11826025 PMID:11896460 PMID:12356572 PMID:12485196 PMID:12746914 PMID:12759288 PMID:14681301 PMID:14718719 PMID:16418737 PMID:16456144 PMID:16720636 PMID:16865291 PMID:16909270 PMID:17450233 PMID:18050183 PMID:18713756 PMID:19365401 PMID:20049212 PMID:22760475 PMID:22992668 PMID:18711258 PMID:19196817 PMID:16393274 PMID:12530118 PMID:18811622 PMID:18763028 PMID:20465535 PMID:16728705 More...
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RGD:4143443, RGD:4143238, RGD:4145508, RGD:4143254, RGD:4143240, RGD:4142802, RGD:4143369, RGD:4143372 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
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ISO |
protein:increased expression:lung (mouse) |
RGD |
PMID:20484920 |
RGD:5131201 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Tnip1 |
TNFAIP3 interacting protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24453940 |
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NCBI chr10:39,037,048...39,084,328
Ensembl chr10:39,037,058...39,077,625
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G |
Trpa1 |
transient receptor potential cation channel, subfamily A, member 1 |
severity |
ISO IMP |
CTD Direct Evidence: marker/mechanism ovalbumin sensitization |
CTD RGD |
PMID:19458046 PMID:31969645 |
RGD:127285811 |
NCBI chr 5:4,379,862...4,434,133
Ensembl chr 5:4,379,999...4,433,570
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G |
Trpa1em1Gne |
transient receptor potential cation channel, subfamily A, member 1;CRISPR/Cas9 induced mutant 1, Gne |
severity |
IMP |
ovalbumin sensitization |
RGD |
PMID:31969645 |
RGD:127285811 |
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G |
Tslp |
thymic stromal lymphopoietin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21804549 |
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NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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G |
Ucn |
urocortin |
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IEP |
associated with Hypersensitivity;mRNA, protein:increased expression:lung |
RGD |
PMID:16427607 |
RGD:1642781 |
NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950
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G |
Uts2 |
urotensin 2 |
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IEP |
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RGD |
PMID:17045018 |
RGD:2306832 |
NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
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G |
Vdr |
vitamin D receptor |
no_association |
ISO |
DNA:SNP: :rs7975232 (human) DNA:SNPs (human) DNA:SNPs: :multiple (human) DNA:SNP (human) |
RGD |
PMID:19622139 PMID:20124605 PMID:15282200 PMID:21103062 |
RGD:4889868, RGD:4889867, RGD:4889854, RGD:4889866 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Vegfa |
vascular endothelial growth factor A |
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ISO |
protein:increased expression:sputum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11907124 PMID:15201500 PMID:19263519 PMID:19178538 |
RGD:6892723 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Vip |
vasoactive intestinal peptide |
|
IDA ISO |
|
RGD |
PMID:21419198 PMID:16782752 |
RGD:5685381, RGD:5685620 |
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216 | |