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: | Immediate Hypersensitivity |
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Accession: | DOID:9002850
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browse the term
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Definition: | Hypersensitivity reactions which occur within minutes of exposure to challenging antigen due to the release of histamine which follows the antigen-antibody reaction and causes smooth muscle contraction and increased vascular permeability. |
Synonyms: | exact_synonym: | Atopic Hypersensitivities; Atopic Hypersensitivity; IgE Mediated Hypersensitivity; IgE-Mediated Hypersensitivities; Immediate Hypersensitivities; Type I Hypersensitivities; Type I Hypersensitivity |
| primary_id: | MESH:D006969 |
| alt_id: | RDO:0001896 |
For additional species annotation, visit the
Alliance of Genome Resources.
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ARG1 |
arginase 1 |
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ISO |
DNA:SNPs: :multiple (human) |
RGD |
PMID:16387594 |
RGD:5129207 |
NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305
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ARG2 |
arginase 2 |
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ISO |
DNA:SNP (human) |
RGD |
PMID:16387594 |
RGD:5129207 |
NCBI chr 8:41,588,051...41,619,406
Ensembl chr 8:41,588,150...41,619,402
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CCL5 |
C-C motif chemokine ligand 5 |
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ISO |
mRNA:increased expression:nasal cavity epithelium |
RGD |
PMID:15823807 |
RGD:2307177 |
NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
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DHODH |
dihydroorotate dehydrogenase (quinone) |
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ISO |
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RGD |
PMID:9918599 |
RGD:2316235 |
NCBI chr 5:77,756,411...77,766,207
Ensembl chr 5:77,756,407...77,774,090
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EGFR |
epidermal growth factor receptor |
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ISO |
DNA:snps:multiple (human) |
RGD |
PMID:20357714 |
RGD:5131868 |
NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
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EGR1 |
early growth response 1 |
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ISO |
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RGD |
PMID:19188657 |
RGD:5131872 |
NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575
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FCER2 |
Fc epsilon receptor II |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22967010 |
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NCBI chr20:52,451,637...52,460,045
Ensembl chr20:52,449,922...52,457,805
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IL10 |
interleukin 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20485159 |
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NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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IL13 |
interleukin 13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20485159 PMID:22967010 |
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NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
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IL18 |
interleukin 18 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22967010 |
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NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
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IL33 |
interleukin 33 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22967010 |
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NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
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IL4 |
interleukin 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12755381 PMID:20485159 PMID:22967010 |
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NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
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IL4R |
interleukin 4 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20485159 |
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NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291
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MS4A2 |
membrane spanning 4-domains A2 |
susceptibility |
ISO |
Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:8817330 PMID:20485159 |
RGD:1599903 |
NCBI chr21:50,439,133...50,456,785
Ensembl chr21:50,450,024...50,456,785
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PLA2G7 |
phospholipase A2 group VII |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10733466 |
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NCBI chr12:14,866,229...14,908,230
Ensembl chr12:14,866,229...14,908,114
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SELP |
selectin P |
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ISO |
atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:point_mutation:CDS:amino acid Val640Leu |
RGD |
PMID:12929084 |
RGD:1599904 |
NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313
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CXCL8 |
C-X-C motif chemokine ligand 8 |
treatment |
ISO |
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RGD |
PMID:30059697 |
RGD:39939057 |
NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
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CCL26 |
C-C motif chemokine ligand 26 |
treatment |
ISO |
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RGD |
PMID:25530546 |
RGD:11081163 |
NCBI chr 6:7,151,352...7,154,509
Ensembl chr 6:7,151,212...7,154,726
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CYSLTR1 |
cysteinyl leukotriene receptor 1 |
treatment |
ISO |
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RGD |
PMID:23933317 |
RGD:40903070 |
NCBI chr X:60,462,290...60,513,155
Ensembl chr X:60,463,526...60,464,548
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DLA88 |
MHC class I DLA-88 |
susceptibility |
ISO |
DNA:polymorphism: |
RGD |
PMID:28380482 |
RGD:13506910 |
NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690
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EPX |
eosinophil peroxidase |
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ISO |
protein:increased expression:urine: |
RGD |
PMID:11846868 |
RGD:13506893 |
NCBI chr 9:32,855,568...32,865,445
Ensembl chr 9:32,855,507...32,865,022
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HLA-DRB1 |
MHC class II DLA DRB1 beta chain |
susceptibility |
ISO |
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RGD |
PMID:22397267 |
RGD:13506905 |
NCBI chr12:2,151,409...2,164,564
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IL25 |
interleukin 25 |
treatment |
ISO |
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RGD |
PMID:17889290 |
RGD:40902975 |
NCBI chr 8:3,621,268...3,624,689
Ensembl chr 8:3,618,161...3,624,043
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TREM1 |
triggering receptor expressed on myeloid cells 1 |
exacerbates |
ISO |
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RGD |
PMID:21592044 |
RGD:126928124 |
NCBI chr12:9,990,678...10,000,195
Ensembl chr12:9,990,679...10,000,236
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CCL17 |
C-C motif chemokine ligand 17 |
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ISO |
associated with Cystic Fibrosis |
RGD |
PMID:17898016 |
RGD:4145612 |
NCBI chr 2:59,001,463...59,014,347
Ensembl chr 2:59,001,464...59,005,230
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CCR1 |
chemokine (C-C motif) receptor 1 |
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ISO |
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RGD |
PMID:15951834 |
RGD:5688155 |
NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
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CCR2 |
C-C motif chemokine receptor 2 |
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ISO |
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RGD |
PMID:10946288 |
RGD:8661731 |
NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
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CFTR |
CF transmembrane conductance regulator |
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ISO |
DNA:mutations: : |
RGD |
PMID:11243954 |
RGD:4140482 |
NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977
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HLA-DRB1 |
MHC class II DLA DRB1 beta chain |
susceptibility |
ISO |
associated with cystic fibrosis; DNA:polymorphisms: : |
RGD |
PMID:23278646 |
RGD:36049760 |
NCBI chr12:2,151,409...2,164,564
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ICAM1 |
intercellular adhesion molecule 1 |
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ISO |
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RGD |
PMID:7743671 |
RGD:8547590 |
NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
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IL1A |
interleukin 1 alpha |
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ISO |
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RGD |
PMID:8699818 |
RGD:7794730 |
NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
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MBL1 |
mannose binding lectin 1 |
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 4:29,419,886...29,424,377
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TLR9 |
toll like receptor 9 |
susceptibility |
ISO |
DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) |
RGD |
PMID:18275280 PMID:18936185 |
RGD:5130858 RGD:5130863 |
NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114 Ensembl chr20:37,542,340...37,547,114
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TNF |
tumor necrosis factor |
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ISO |
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RGD |
PMID:8699818 |
RGD:7794730 |
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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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 chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
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B9D2 |
B9 domain containing 2 |
treatment |
ISO |
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RGD |
PMID:16914468 |
RGD:11041889 |
NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
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CCL2 |
C-C motif chemokine ligand 2 |
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ISO |
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RGD |
PMID:19553621 |
RGD:8548840 |
NCBI chr 9:39,008,187...39,009,932
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CCL5 |
C-C motif chemokine ligand 5 |
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ISO |
mRNA:increased expression:conjunctiva |
RGD |
PMID:12682842 |
RGD:2307196 |
NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
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CCL7 |
C-C motif chemokine ligand 7 |
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ISO |
protein:increased expression:conjunctiva |
RGD |
PMID:11090473 |
RGD:6483824 |
NCBI chr 9:38,994,638...38,996,103
Ensembl chr 9:38,993,911...39,010,483
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CCR3 |
C-C motif chemokine receptor 3 |
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ISO |
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RGD |
PMID:18658092 |
RGD:6893389 |
NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217
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ICAM1 |
intercellular adhesion molecule 1 |
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ISO |
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RGD |
PMID:8766745 |
RGD:8547686 |
NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
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IFNG |
interferon gamma |
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ISO |
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RGD |
PMID:12234900 PMID:16123425 |
RGD:8142386 RGD:8142391 |
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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IL10 |
interleukin 10 |
treatment |
ISO |
protein:increased expression:tear |
RGD |
PMID:15144463 PMID:16914468 PMID:19060266 PMID:22092652 |
RGD:11041889 RGD:7364837 RGD:7365027 RGD:7365076 |
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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IL13 |
interleukin 13 |
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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 chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
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IL1B |
interleukin 1 beta |
treatment |
ISO |
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RGD |
PMID:9326725 |
RGD:7401198 |
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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IL1RN |
interleukin 1 receptor antagonist |
treatment |
ISO |
human protein in a mouse model |
RGD |
PMID:10549671 |
RGD:8549802 |
NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
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IL4R |
interleukin 4 receptor |
susceptibility |
ISO |
associated with rhinitis; DNA:SNP: : rs2107356 (human) |
RGD |
PMID:20002627 |
RGD:4890389 |
NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291
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IRF1 |
interferon regulatory factor 1 |
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ISO |
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RGD |
PMID:14605445 |
RGD:5128787 |
NCBI chr11:20,773,801...20,781,106
Ensembl chr11:20,760,120...20,781,608
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LCK |
LCK proto-oncogene, Src family tyrosine kinase |
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ISO |
protein:increased phosphorylation:T cell |
RGD |
PMID:14507881 |
RGD:1600225 |
NCBI chr 2:68,940,816...68,964,585
Ensembl chr 2:68,941,249...68,964,567
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MUC1 |
mucin 1, cell surface associated |
severity |
ISO |
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RGD |
PMID:17177679 |
RGD:7349351 |
NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690
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MUC2 |
mucin 2, oligomeric mucus/gel-forming |
severity |
ISO |
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RGD |
PMID:17177679 |
RGD:7349351 |
NCBI chr18:45,416,347...45,438,226
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MUC4 |
mucin 4, cell surface associated |
severity |
ISO |
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RGD |
PMID:11581187 PMID:17177679 |
RGD:7349351 RGD:7349400 |
NCBI chr33:29,061,372...29,084,938
Ensembl chr33:29,063,096...29,111,802
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TLR2 |
toll like receptor 2 |
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ISO |
associated with Staphylococcal Infections; |
RGD |
PMID:19358332 |
RGD:8552826 |
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
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TLR4 |
toll like receptor 4 |
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ISO |
mRNA,protein:increased expression:conjunctiva: |
RGD |
PMID:16023216 PMID:21391988 PMID:21820713 |
RGD:7777131 RGD:7794770 RGD:7794849 |
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
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TLR9 |
toll like receptor 9 |
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ISO |
mRNA,protein:decreased expression:conjunctiva: |
RGD |
PMID:16023216 |
RGD:7794849 |
NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114 Ensembl chr20:37,542,340...37,547,114
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TNC |
tenascin C |
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ISO |
DNA:SNPs: :multiple (human) |
RGD |
PMID:18305139 |
RGD:4889589 |
NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281
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G |
ABCB1 |
ATP binding cassette subfamily B member 1 |
severity |
ISO |
DNA:snp:exon:c.1236C>T (human) |
RGD |
PMID:24040855 |
RGD:8657076 |
NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
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ACE |
angiotensin I converting enzyme |
no_association |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:15112973 |
RGD:8142345 |
NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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G |
B9D2 |
B9 domain containing 2 |
treatment |
ISO |
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RGD |
PMID:31368266 |
RGD:14995445 |
NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
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G |
BCL2 |
BCL2 apoptosis regulator |
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ISO |
mRNA, protein:increased expression:nasal mucosa (rat) |
RGD |
PMID:15362690 |
RGD:11522724 |
NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
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CAT |
catalase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29028686 |
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NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
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G |
CCL26 |
C-C motif chemokine ligand 26 |
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ISO |
protein:increased expression:oronasal secretion (human) |
RGD |
PMID:23883806 |
RGD:7364793 |
NCBI chr 6:7,151,352...7,154,509
Ensembl chr 6:7,151,212...7,154,726
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CD40 |
CD40 molecule |
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ISO |
protein:increased expression:lymphocyte |
RGD |
PMID:19086656 |
RGD:8547782 |
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
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CD40LG |
CD40 ligand |
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ISO |
protein:increased expression:lymphocyte |
RGD |
PMID:19086656 |
RGD:8547782 |
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
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CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
treatment |
ISO |
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RGD |
PMID:10436391 |
RGD:11344920 |
NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
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F2 |
coagulation factor II, thrombin |
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ISO |
protein:increased expression:nasal mucus |
RGD |
PMID:21711961 |
RGD:5147783 |
NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
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GRIA1 |
glutamate ionotropic receptor AMPA type subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34624383 |
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NCBI chr 4:55,801,269...56,103,383
Ensembl chr 4:55,803,296...56,103,669
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G |
GRIA2 |
glutamate ionotropic receptor AMPA type subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34624383 |
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NCBI chr15:54,634,332...54,710,711
Ensembl chr15:54,634,335...54,708,184
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HRH1 |
histamine receptor H1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23333628 |
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NCBI chr20:7,160,903...7,236,147
Ensembl chr20:7,162,393...7,235,869
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IFNG |
interferon gamma |
treatment |
ISO |
associated with Asthma |
RGD |
PMID:12787306 PMID:18510219 |
RGD:10755770 RGD:7829803 |
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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IL10 |
interleukin 10 |
treatment |
ISO |
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RGD |
PMID:23253209 PMID:23883806 |
RGD:7364793 RGD:7364818 |
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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G |
IL13 |
interleukin 13 |
susceptibility no_association |
ISO |
ClinVar Annotator: match by term: Allergic rhinitis DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) |
OMIM ClinVar RGD |
PMID:10699178 PMID:12928861 PMID:15356556 PMID:15483090 PMID:15711639 |
RGD:8549516 |
NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
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G |
IL13RA2 |
interleukin 13 receptor subunit alpha 2 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21462799 |
RGD:8549521 |
NCBI chr X:87,747,373...87,776,797
Ensembl chr X:87,747,373...87,776,798
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IL17A |
interleukin 17A |
susceptibility |
ISO |
DNA:snp:promoter:c.-444A>G (human) mRNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:21535180 PMID:22507625 |
RGD:5147409 RGD:9068429 |
NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
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G |
IL18 |
interleukin 18 |
no_association severity |
ISO |
DNA:SNP:promoter:-140C>G (rs360721) (human) DNA:SNP:promoter:-137G>C (rs187238) (human) |
RGD |
PMID:22840759 |
RGD:8655914 |
NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
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G |
IL1B |
interleukin 1 beta |
|
ISO |
protein:increased expression:nasal mucus |
RGD |
PMID:7750009 |
RGD:7401199 |
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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G |
IL2 |
interleukin 2 |
|
ISO |
|
RGD |
PMID:12592663 |
RGD:8662963 |
NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
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G |
IL4 |
interleukin 4 |
treatment |
ISO |
|
RGD |
PMID:8908280 PMID:9893928 PMID:14653048 PMID:24620662 |
RGD:11522769 RGD:7829796 RGD:7829802 RGD:7829827 |
NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
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G |
IL5 |
interleukin 5 |
treatment |
ISO |
|
RGD |
PMID:23934070 PMID:24620662 |
RGD:11354976 RGD:11522769 |
NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
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G |
ITGB2 |
integrin subunit beta 2 |
treatment |
ISO |
|
RGD |
PMID:12046991 |
RGD:9698435 |
NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018
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G |
LOC478984 |
low affinity immunoglobulin gamma Fc region receptor III |
susceptibility |
ISO |
DNA:polymorphism:exon:p.F158V(rs396991)(human) |
RGD |
PMID:18199088 |
RGD:5508449 |
NCBI chr38:21,054,870...21,060,948
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G |
MUC1 |
mucin 1, cell surface associated |
severity |
ISO |
mRNA,protein:decreased expression:nasal mucosa |
RGD |
PMID:31425778 |
RGD:127345100 |
NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690
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G |
MUC5AC |
mucin 5AC, oligomeric mucus/gel-forming |
|
ISO |
mRNA, protein:increased expression:nasal cavity epithelium |
RGD |
PMID:22972875 |
RGD:7364746 |
NCBI chr18:45,471,232...45,498,961
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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 chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232
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G |
PON1 |
paraoxonase 1 |
severity |
ISO |
protein:decreased activity:plasma (human) |
RGD |
PMID:23406590 |
RGD:8547583 |
NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
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G |
PRKG1 |
protein kinase cGMP-dependent 1 |
|
ISO |
protein:increased expression:nasal cavity epithelium |
RGD |
PMID:24012634 |
RGD:7775060 |
NCBI chr26:35,732,974...36,932,744
Ensembl chr26:35,737,242...36,932,729
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G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16979129 |
|
NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
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G |
SCGB1A1 |
secretoglobin family 1A member 1 |
|
ISO |
mRNA:decreased expression:nasal mucosa, lung |
RGD |
PMID:17882576 |
RGD:5144135 |
NCBI chr18:54,187,487...54,191,493
Ensembl chr18:54,187,487...54,191,482
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G |
SCGB3A2 |
secretoglobin family 3A member 2 |
susceptibility |
ISO |
DNA:SNP: :rs7726552 (human) |
RGD |
PMID:21410962 |
RGD:5144225 |
NCBI chr 2:42,147,596...42,151,224
Ensembl chr 2:42,147,596...42,151,191
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G |
SERPINE1 |
serpin family E member 1 |
|
ISO |
mRNA:increased expression:nasal mucosa (mouse) |
RGD |
PMID:21339035 |
RGD:8547809 |
NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
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G |
TACR1 |
tachykinin receptor 1 |
|
ISO |
mRNA:increased expression:nasal mucosa |
RGD |
PMID:12768696 |
RGD:5147835 |
NCBI chr17:48,038,010...48,178,971
Ensembl chr17:48,038,010...48,178,971
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G |
TLR2 |
toll like receptor 2 |
severity |
ISO |
mRNA:decreased expression:nasal mucosa: DNA:polymorphism:cds:p.R753Q(human) protein:increased expression:neutrophil: |
RGD |
PMID:18219831 PMID:18381801 PMID:22402138 PMID:22555057 |
RGD:7800732 RGD:7800742 RGD:8552972 RGD:8552993 |
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
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G |
TLR4 |
toll like receptor 4 |
treatment severity no_association susceptibility |
ISO |
protein:decreased expression:nasal mucosa: DNA:polymorphism:cds:p.D299G(human) DNA:polymorphism: :4216G>C(human) protein:increased expression:nasal lavage,leukocyte, bone marrow: DNA:SNP: :rs1927911(human) |
RGD |
PMID:17069098 PMID:19763595 PMID:22402138 PMID:22555057 PMID:22577387 PMID:23639307 More...
|
RGD:4145354 RGD:7800732 RGD:7800736 RGD:7800738 RGD:7800740 RGD:8552993 |
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
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G |
TLR9 |
toll like receptor 9 |
|
ISO |
protein:decreased expression:nasal mucosa: |
RGD |
PMID:22577387 |
RGD:7800740 |
NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114 Ensembl chr20:37,542,340...37,547,114
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G |
IL3 |
interleukin 3 |
susceptibility |
ISO |
DNA:SNP: :rs40401(human) |
RGD |
PMID:23953855 |
RGD:13506915 |
NCBI chr11:20,330,480...20,332,668
Ensembl chr11:20,330,480...20,332,668
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G |
ADRB1 |
adrenoceptor beta 1 |
disease_progression |
ISO |
|
RGD |
PMID:20959119 |
RGD:6893644 |
NCBI chr28:24,908,224...24,909,684
Ensembl chr28:24,908,224...24,909,684
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G |
AGT |
angiotensinogen |
|
ISO |
|
RGD |
PMID:1422942 |
RGD:8548893 |
NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
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G |
ASPG |
asparaginase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:65671 |
|
NCBI chr 8:71,747,319...71,764,570
Ensembl chr 8:71,753,164...71,765,349
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G |
BTK |
Bruton tyrosine kinase |
treatment |
ISO |
|
RGD |
PMID:22228807 |
RGD:11040701 |
NCBI chr X:75,270,952...75,302,663
Ensembl chr X:75,270,979...75,302,562
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G |
CABS1 |
calcium binding protein, spermatid associated 1 |
treatment |
ISO |
|
RGD |
PMID:25632019 |
RGD:14400306 |
NCBI chr13:59,691,575...59,712,204
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G |
CMA1 |
chymase 1 |
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ISO |
protein:increased expression:lung, mast cell (human) |
RGD |
PMID:17081716 |
RGD:5128820 |
NCBI chr 8:4,438,244...4,441,189
Ensembl chr 8:4,438,244...4,441,189
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G |
GRAP2 |
GRB2 related adaptor protein 2 |
ameliorates |
ISO |
|
RGD |
PMID:18664516 |
RGD:126790488 |
NCBI chr10:25,156,233...25,220,106
Ensembl chr10:25,157,841...25,220,222
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G |
HDAC3 |
histone deacetylase 3 |
|
ISO |
|
RGD |
PMID:24619412 |
RGD:9590165 |
NCBI chr 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682
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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 chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
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G |
KNG1 |
kininogen 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7623993 |
|
NCBI chr34:19,288,629...19,318,096
Ensembl chr34:19,287,109...19,318,081
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G |
LTB4R |
leukotriene B4 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10934231 |
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NCBI chr 8:4,282,924...4,286,869
Ensembl chr 8:4,285,323...4,286,534
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G |
NLRP3 |
NLR family pyrin domain containing 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19767079 |
|
NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059
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G |
PTGS1 |
prostaglandin-endoperoxide synthase 1 |
|
ISO |
|
RGD |
PMID:18480553 |
RGD:2300247 |
NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819
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G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
|
RGD |
PMID:17822719 PMID:18480553 |
RGD:1642600 RGD:2300247 |
NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
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G |
VCAM1 |
vascular cell adhesion molecule 1 |
|
ISO |
|
RGD |
PMID:21604443 |
RGD:7207802 |
NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
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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 1:103,227,936...103,244,263
Ensembl chr 1:103,226,597...103,244,441
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G |
CCR3 |
C-C motif chemokine receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:20022477 PMID:20485159 |
RGD:4145619 |
NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217
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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:60,462,290...60,513,155
Ensembl chr X:60,463,526...60,464,548
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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 |
RGD CTD |
PMID:15970796 PMID:16502481 PMID:20485159 |
RGD:5144000 |
NCBI chr22:2,914,960...2,962,517
Ensembl chr22:2,917,514...2,918,551
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G |
FANCC |
FA complementation group C |
|
ISO |
DNA:haplotype::rs4647416(human) |
RGD |
PMID:21670957 |
RGD:11045795 |
NCBI chr 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506
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G |
HLA-DRB1 |
MHC class II DLA DRB1 beta chain |
susceptibility |
ISO |
|
RGD |
PMID:25975240 |
RGD:11074090 |
NCBI chr12:2,151,409...2,164,564
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G |
IL4 |
interleukin 4 |
susceptibility |
ISO |
DNA:SNPs:promoter,5'UTR,intron:multiple |
RGD |
PMID:20921925 |
RGD:11528633 |
NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
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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 chr11:1,893,927...1,897,028
Ensembl chr11:1,894,380...1,897,752
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G |
MS4A2 |
membrane spanning 4-domains A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16502481 |
|
NCBI chr21:50,439,133...50,456,785
Ensembl chr21:50,450,024...50,456,785
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G |
POSTN |
periostin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18391768 |
|
NCBI chr25:3,167,319...3,208,970
Ensembl chr25:3,167,359...3,208,411
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G |
PTGDR2 |
prostaglandin D2 receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20485159 |
|
NCBI chr18:55,426,632...55,431,916
Ensembl chr18:55,429,308...55,430,510
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G |
PTGER2 |
prostaglandin E receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to |
ClinVar |
PMID:15496426 |
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NCBI chr 8:28,523,318...28,536,936
Ensembl chr 8:28,522,681...28,536,922
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G |
PTGIR |
prostaglandin I2 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20485159 |
|
NCBI chr 1:109,275,198...109,279,463
Ensembl chr 1:109,274,988...109,277,584
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G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
protein:increased expression:mast cell CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:9487340 PMID:16502481 PMID:20485159 |
RGD:5143936 |
NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
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G |
TAP2 |
transporter 2, ATP binding cassette subfamily B member |
|
ISO |
|
RGD |
PMID:21796142 |
RGD:5147839 |
NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
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G |
TBX21 |
T-box transcription factor 21 |
|
ISO |
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to |
ClinVar |
PMID:15806396 |
|
NCBI chr 9:24,077,752...24,086,560
Ensembl chr 9:24,077,761...24,086,261
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G |
TBXA2R |
thromboxane A2 receptor |
susceptibility |
ISO |
DNA:polymorphism: :795T>C (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:15898979 PMID:16502481 PMID:20485159 |
RGD:11059537 |
NCBI chr20:55,819,866...55,829,395
Ensembl chr20:55,824,410...55,828,980
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G |
ABCB1 |
ATP binding cassette subfamily B member 1 |
|
ISO |
protein:increased expression:blood, lymphocyte |
RGD |
PMID:19484671 |
RGD:4890020 |
NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
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G |
ABCC1 |
ATP binding cassette subfamily C member 1 |
|
ISO |
|
RGD |
PMID:18931056 |
RGD:5128825 |
NCBI chr 6:27,855,702...27,950,140
Ensembl chr 6:27,855,702...27,989,331
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G |
ABO |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
no_association |
ISO |
|
RGD |
PMID:16008680 PMID:19771478 |
RGD:5128831 RGD:5128835 |
NCBI chr 9:49,746,749...49,758,317
Ensembl chr 9:49,748,693...49,758,479
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G |
ACE |
angiotensin I converting enzyme |
susceptibility |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:19383228 PMID:19484664 |
RGD:4140913 RGD:4140919 |
NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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G |
ACSL3 |
acyl-CoA synthetase long chain family member 3 |
|
ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:19221603 |
RGD:13831295 |
NCBI chr37:28,882,264...28,929,451
Ensembl chr37:28,864,147...28,938,866
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G |
ADA |
adenosine deaminase |
susceptibility |
ISO |
DNA:polymorphisms (human) |
RGD |
PMID:16754522 |
RGD:5128848 |
NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160
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G |
ADAM33 |
ADAM metallopeptidase domain 33 |
disease_progression susceptibility no_association |
ISO |
mRNA:increased expression:bronchus mRNA:increased expression:lung DNA:SNPs (human) DNA:polymorphism: :p.M764T (human) DNA:SNPs:introns,exon:7575G>A, 11188A>T, 12433T>C (human) DNA:SNPs: :multiple (human) |
RGD |
PMID:16893396 PMID:17339047 PMID:17961406 PMID:18778489 PMID:19635592 PMID:19940503 More...
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RGD:4145359 RGD:4145360 RGD:4145378 RGD:4145379 RGD:4145380 RGD:4145382 |
NCBI chr24:17,668,377...17,682,217
Ensembl chr24:17,668,500...17,681,209
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G |
ADAM8 |
ADAM metallopeptidase domain 8 |
severity |
ISO |
mRNA:increased expression:respiratory tract mRNA:increased expression:bronchus |
RGD |
PMID:17339047 PMID:19373511 PMID:20194813 |
RGD:4145380 RGD:5128872 RGD:5128878 |
NCBI chr28:40,853,665...40,865,604
Ensembl chr28:40,855,509...40,863,747
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G |
ADCY2 |
adenylate cyclase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
|
NCBI chr34:6,139,931...6,527,677
Ensembl chr34:6,140,276...6,527,677
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G |
ADCYAP1R1 |
ADCYAP receptor type I |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21059121 |
|
NCBI chr14:43,707,683...43,761,166
Ensembl chr14:43,701,745...43,756,571
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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:15919956 PMID:17543375 PMID:19395503 PMID:19514054 |
RGD:5128882 RGD:5128890 RGD:5128891 RGD:5128892 |
NCBI chr32:21,249,459...21,261,130
Ensembl chr32:21,249,739...21,265,048
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G |
ADIPOQ |
adiponectin, C1Q and collagen domain containing |
|
ISO |
|
RGD |
PMID:19168697 |
RGD:5686821 |
NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
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G |
ADORA1 |
adenosine A1 receptor |
|
ISO |
protein:increased expression:bronchus DNA:SNPs: :1405C>T (human) |
RGD |
PMID:17959644 PMID:19019667 PMID:20400685 |
RGD:4145444 RGD:4890386 RGD:5129097 |
NCBI chr 7:44,819...74,217
Ensembl chr 7:44,820...73,051
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|
G |
ADORA2A |
adenosine A2a receptor |
|
ISO |
DNA:SNP (human) mRNA:decreased expression:aorta |
RGD |
PMID:16339780 PMID:17293374 PMID:18310516 PMID:19019667 |
RGD:4890366 RGD:4890380 RGD:4890385 RGD:4890386 |
NCBI chr26:28,141,076...28,150,600
Ensembl chr26:28,141,076...28,150,598
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G |
ADRB2 |
adrenoceptor beta 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to |
OMIM ClinVar |
PMID:8383511 PMID:15284533 PMID:16596417 |
|
NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298
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G |
AGER |
advanced glycosylation end-product specific receptor |
treatment onset |
ISO |
CTD Direct Evidence: marker/mechanism protein:decreased expression:lung (rat) |
RGD CTD |
PMID:21920897 PMID:23304218 PMID:33075463 |
RGD:6767554 RGD:7244279 |
NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
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G |
AGTR1 |
angiotensin II receptor type 1 |
|
ISO |
|
RGD |
PMID:19080339 |
RGD:5147457 |
NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238
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G |
AGTR2 |
angiotensin II receptor type 2 |
|
ISO |
mRNA, protein:increased expression:lung |
RGD |
PMID:19080339 |
RGD:5147457 |
NCBI chr X:88,703,551...88,708,451
Ensembl chr X:88,705,765...88,706,853
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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 |
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NCBI chr26:9,319,109...9,361,021
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G |
ALOX15 |
arachidonate 15-lipoxygenase |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:18692885 PMID:19628725 |
RGD:5509605 RGD:5509784 |
NCBI chr 5:31,883,544...31,891,357
Ensembl chr 5:31,882,501...32,038,119
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G |
ALOX5 |
arachidonate 5-lipoxygenase |
susceptibility treatment no_association severity |
ISO |
mRNA:increased expression:blood, leukocyte DNA:polymorphism:cds:p.E254K (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter (human) protein:increased expression:lung DNA:repeat:promoter (human) |
OMIM RGD CTD |
PMID:8879219 PMID:9642160 PMID:10369259 PMID:11035107 PMID:12911785 PMID:16364163 PMID:17394438 PMID:18204779 PMID:19033731 PMID:20128419 More...
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RGD:4890407 RGD:4890408 RGD:4890410 RGD:4890413 RGD:4890415 RGD:4890422 RGD:5147462 RGD:5147465 RGD:5147467 RGD:734557 |
NCBI chr28:2,170,920...2,218,765
Ensembl chr28:2,170,920...2,219,609
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G |
ALOX5AP |
arachidonate 5-lipoxygenase activating protein |
no_association susceptibility |
ISO |
DNA:repeat:promoter:-169(A)21 (human) mRNA:increased expression:blood, leukocyte DNA:substitution, repeat:promoter:-336G>A, -169(A)19-23 (human) DNA:polymorphism:promoter (human) protein:increased expression:lung DNA:SNP: :rs10507391 (human) DNA:SNPs (human) DNA:polymorphisms:intron:IVS2+12C>A, IVS2+105T>C (human) |
RGD |
PMID:8879219 PMID:9642160 PMID:10527888 PMID:11035107 PMID:12911785 PMID:15784112 PMID:18547289 PMID:20067482 PMID:20128419 More...
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RGD:4890405 RGD:4890407 RGD:4890409 RGD:4890422 RGD:5147462 RGD:5147464 RGD:5147465 RGD:5147466 RGD:5147467 |
NCBI chr25:9,320,868...9,351,056
Ensembl chr25:9,320,864...9,351,836
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G |
AMBP |
alpha-1-microglobulin/bikunin precursor |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:14621078 |
RGD:6904149 |
NCBI chr11:68,338,644...68,353,366
Ensembl chr11:68,338,389...68,351,994
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G |
ANXA1 |
annexin A1 |
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ISO |
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RGD |
PMID:22092555 |
RGD:7421657 |
NCBI chr 1:84,744,159...84,763,011
Ensembl chr 1:84,744,163...84,763,011
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G |
AREG |
amphiregulin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15696081 |
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NCBI chr13:62,925,761...62,936,753
Ensembl chr13:62,926,301...62,936,738
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G |
ARG1 |
arginase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:lung, mononuclear cell (human) DNA:SNP: :rs2781667 (human) mRNA:increased expression:lung (mouse) |
CTD RGD |
PMID:12813022 PMID:19281908 PMID:19800904 PMID:20124949 |
RGD:4143187 RGD:5129205 |
NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305
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G |
ARG2 |
arginase 2 |
severity susceptibility |
ISO |
DNA:SNP: :rs3742879, rs17249437 (human) DNA:SNPs (human) mRNA:increased expression:lung (mouse) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:12813022 PMID:16387594 PMID:19281908 PMID:20124949 |
RGD:4143187 RGD:5129205 RGD:5129207 |
NCBI chr 8:41,588,051...41,619,406
Ensembl chr 8:41,588,150...41,619,402
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G |
B9D2 |
B9 domain containing 2 |
onset no_association |
ISO |
DNA:SNP: :-509C>T (human) mRNA:increased expression:lung DNA:SNP:cds:915G>C (human) DNA:polymorphism: :-509C>T (human) CTD Direct Evidence: marker/mechanism protein:increased expression:serum DNA:polymorphisms: :multiple (human) DNA:SNPs:promoter, exon:multiple (human) |
RGD CTD |
PMID:16365456 PMID:17673695 PMID:18366906 PMID:18711258 PMID:19046298 PMID:19096005 PMID:19136038 PMID:19138248 PMID:19222424 PMID:19317336 PMID:19533439 PMID:19620629 PMID:20485865 More...
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RGD:4143443 RGD:4145113 RGD:4145132 RGD:4145139 RGD:4145142 RGD:4145143 RGD:4145144 RGD:4145280 RGD:4145295 RGD:4145297 RGD:4145299 |
NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
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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 chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
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G |
BDKRB2 |
bradykinin receptor B2 |
onset |
ISO |
protein:increased expression:blood, eosinophil DNA:polymorphism:exon (human) |
RGD |
PMID:8856156 PMID:11517947 PMID:14727005 PMID:19038786 |
RGD:4890454 RGD:4890456 RGD:4891028 RGD:4891042 |
NCBI chr 8:64,974,588...65,005,682
Ensembl chr 8:64,974,997...65,003,407
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G |
BDNF |
brain derived neurotrophic factor |
severity susceptibility |
ISO |
protein:decreased expression:blood, eosinophil protein:increased expression:plasma DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human) DNA:polymorphisms: :p.V66M (rs6265) (human) DNA:polymorphisms: :p.V66M, -270C>T (human) |
RGD |
PMID:11737043 PMID:12752594 PMID:17584309 PMID:19895626 PMID:20874832 PMID:21723144 More...
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RGD:4891063 RGD:4891067 RGD:4891117 RGD:4891122 RGD:4891123 RGD:8655967 |
NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
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G |
BGLAP |
bone gamma-carboxyglutamate protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8429434 |
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NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791
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G |
BMPR1B |
bone morphogenetic protein receptor type 1B |
|
ISO |
protein:decreased expression:bronchus |
RGD |
PMID:18292470 |
RGD:5129470 |
NCBI chr32:17,761,555...17,978,056
Ensembl chr32:17,870,904...18,016,444
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G |
BMPR2 |
bone morphogenetic protein receptor type 2 |
|
ISO |
protein:decreased expression:bronchus |
RGD |
PMID:18292470 |
RGD:5129470 |
NCBI chr37:11,342,292...11,540,199
Ensembl chr37:11,342,384...11,533,024
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G |
C3 |
complement C3 |
severity |
ISO |
Interaction with IL4RA DNA:SNPs: :multiple (human) DNA:SNP:intron:rs11569562 (human) protein:increased expression:serum protein:increased expression:respiratory system fluid/secretion DNA:SNP: :4896C>T (human) |
RGD |
PMID:11591733 PMID:15278436 PMID:16355111 PMID:18566738 PMID:20395963 PMID:20402389 PMID:20589464 PMID:20802484 More...
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RGD:5129501 RGD:5129505 RGD:5129512 RGD:5129517 RGD:5129519 RGD:5129537 RGD:5129538 RGD:5129681 |
NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
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G |
C3AR1 |
complement C3a receptor 1 |
severity |
ISO |
mRNA:increased expression:lung protein:increased expression:lung, leukocyte |
RGD |
PMID:15278436 PMID:15940127 PMID:17544263 PMID:20045013 PMID:20802484 |
RGD:5129512 RGD:5129560 RGD:5129561 RGD:5129681 RGD:5129686 |
NCBI chr27:37,431,745...37,439,858
Ensembl chr27:37,433,792...37,435,246
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G |
C5 |
complement C5 |
severity |
ISO |
mRNA:decreased expression:lung |
RGD |
PMID:10973279 PMID:11591795 PMID:15278436 PMID:20143644 PMID:20802484 |
RGD:1600651 RGD:5129512 RGD:5129681 RGD:5129706 RGD:5130158 |
NCBI chr11:73,953,727...74,029,919
Ensembl chr11:73,953,727...74,029,851
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G |
C5AR1 |
complement C5a receptor 1 |
severity |
ISO |
protein:increased expression:lung, leukocyte protein:increased expression:respiratory tract |
RGD |
PMID:15940127 PMID:16511606 PMID:17544263 PMID:20802484 |
RGD:5129560 RGD:5129561 RGD:5129681 RGD:5130166 |
NCBI chr 1:108,659,637...108,704,217
Ensembl chr 1:108,659,637...108,675,401
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G |
CARD11 |
caspase recruitment domain family member 11 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma |
RGD ClinVar |
PMID:16751370 PMID:18323416 PMID:23129749 PMID:25741868 PMID:28492532 |
RGD:11100037 |
NCBI chr 6:14,273,115...14,331,029
Ensembl chr 6:14,210,114...14,332,094
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G |
CARM1 |
coactivator associated arginine methyltransferase 1 |
|
ISO |
mRNA:decreased expression:lung |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr20:50,328,466...50,371,845
Ensembl chr20:50,331,030...50,348,195
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G |
CAT |
catalase |
severity |
ISO |
protein:decreased activity DNA:polymorphism:promoter:-21A>T (human) protein:decreased activity:respiratory system fluid/secretion protein:increased expression:erythrocyte DNA:polymorphism:promoter:-262C>T (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:16622028 PMID:18048809 PMID:19373626 PMID:19475625 |
RGD:5130751 RGD:5130753 RGD:5130856 RGD:5130867 |
NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
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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 chr 9:38,931,895...38,936,969
Ensembl chr 9:38,933,514...38,961,187
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G |
CCL17 |
C-C motif chemokine ligand 17 |
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ISO |
mRNA:increased expression:lung protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:11160256 PMID:15947487 PMID:15993846 PMID:20074456 PMID:20237293 |
RGD:2306304 RGD:4145486 RGD:4145487 RGD:4145513 RGD:4145603 |
NCBI chr 2:59,001,463...59,014,347
Ensembl chr 2:59,001,464...59,005,230
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G |
CCL19 |
C-C motif chemokine ligand 19 |
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ISO |
protein:increased expression:bronchus submucosa, mast cell |
RGD |
PMID:16959919 |
RGD:5130911 |
NCBI chr11:51,357,706...51,359,207
Ensembl chr11:51,340,530...51,359,365
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G |
CCL2 |
C-C motif chemokine ligand 2 |
treatment severity |
ISO |
CTD Direct Evidence: marker/mechanism DNA:haplotype::-2518A>G (human) mRNA:increased expression:lung (mouse) protein:increased expression:lung protein:increased expression:serum |
CTD RGD |
PMID:12055264 PMID:17964702 PMID:19373627 PMID:20205697 PMID:23454776 PMID:25441643 More...
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RGD:11528569 RGD:11528570 RGD:2307055 RGD:4145509 RGD:4891466 RGD:8551842 |
NCBI chr 9:39,008,187...39,009,932
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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 chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709
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G |
CCL22 |
C-C motif chemokine ligand 22 |
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ISO |
mRNA:increased expression:lung mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:10384142 PMID:15993846 PMID:18316417 PMID:18684970 |
RGD:2306304 RGD:4145489 RGD:4891474 RGD:4891475 |
NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625
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G |
CCL24 |
C-C motif chemokine ligand 24 |
susceptibility |
ISO |
protein:increased expression:plasma DNA:SNPs: :304C>A, 1272A>G (human) protein:increased expression:respiratory system fluid/secretion DNA:SNP: :1265A>G (human) DNA:SNPs: :179T>C, 275C>T (human) |
RGD |
PMID:12761043 PMID:12952266 PMID:15207712 PMID:16304252 PMID:17060636 PMID:17548626 PMID:18712274 More...
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RGD:4891483 RGD:4891484 RGD:4891485 RGD:4891495 RGD:4891496 RGD:5130930 RGD:5130932 |
NCBI chr 6:7,166,165...7,179,606
Ensembl chr 6:7,166,479...7,180,051
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G |
CCL26 |
C-C motif chemokine ligand 26 |
treatment |
ISO |
protein:increased expression:plasma DNA:SNPs: :77C>T, 716A>G, 1579G>A (human) DNA:SNPs: :77C>T, 2497T>G (human) |
RGD |
PMID:15207712 PMID:16304252 PMID:18712274 PMID:25399816 PMID:25530546 |
RGD:11081163 RGD:11087575 RGD:4891483 RGD:4891495 RGD:5130930 |
NCBI chr 6:7,151,352...7,154,509
Ensembl chr 6:7,151,212...7,154,726
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G |
CCL27 |
C-C motif chemokine ligand 27 |
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ISO |
|
RGD |
PMID:19541356 |
RGD:5130899 |
NCBI chr11:51,334,870...51,338,752
Ensembl chr11:51,334,778...51,335,591
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G |
CCL28 |
C-C motif chemokine ligand 28 |
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ISO |
mRNA:increased expression:lung (mouse) |
RGD |
PMID:16290206 |
RGD:4892195 |
NCBI chr 4:66,567,139...66,597,310
Ensembl chr 4:66,566,989...66,597,459
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G |
CCL4 |
chemokine (C-C motif) ligand 4 |
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ISO |
|
RGD |
PMID:18774390 |
RGD:5130915 |
NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209
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G |
CCL5 |
C-C motif chemokine ligand 5 |
susceptibility |
ISO |
DNA:transition:5' utr:-403G>A (human) protein:increased expression:smooth muscle cell protein:increased expression:lung, secretion (mouse) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:8534483 PMID:18208670 PMID:20092989 PMID:20430255 |
RGD:2307112 RGD:4891381 RGD:4891430 |
NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
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G |
CCL7 |
C-C motif chemokine ligand 7 |
|
ISO |
Promoter polymorphism |
RGD |
PMID:19965981 PMID:21388664 |
RGD:5130979 RGD:5130983 |
NCBI chr 9:38,994,638...38,996,103
Ensembl chr 9:38,993,911...39,010,483
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G |
CCR1 |
chemokine (C-C motif) receptor 1 |
severity |
ISO |
mRNA:increased expression:lung associated with Respiratory Syncytial Virus Infections |
RGD |
PMID:15593301 PMID:15654816 |
RGD:5688158 RGD:5688159 |
NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
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G |
CCR2 |
C-C motif chemokine receptor 2 |
susceptibility |
ISO |
DNA:SNP:cds:p.V64I (human) protein:increased expression:lung, dendritic cell (mouse) DNA:haplotype:cds:p.V64I(human) |
RGD |
PMID:17298432 PMID:19917684 PMID:23454776 |
RGD:4145110 RGD:8549811 RGD:8551842 |
NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
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G |
CCR3 |
C-C motif chemokine receptor 3 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion, neutrophil DNA:SNP:exon:51T>C (human) |
RGD |
PMID:16978084 PMID:17145927 PMID:18699933 PMID:19017998 PMID:19657453 PMID:20134116 PMID:20220260 More...
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RGD:1601020 RGD:4145618 RGD:4145623 RGD:4145632 RGD:4145633 RGD:4145638 RGD:4145646 |
NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217
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G |
CCR4 |
C-C motif chemokine receptor 4 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:15993846 |
RGD:2306304 |
NCBI chr23:3,844,072...3,847,770
Ensembl chr23:3,844,173...3,845,255
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G |
CCR5 |
C-C motif chemokine receptor 5 |
no_association |
ISO |
mRNA:increased expression:lung (mouse) DNA:polymorphism, frameshift mutation: :-59029G>A, p.S185_T195del (rs333) (human) protein:decreased expression:blood, lymphocyte (human) DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) |
RGD |
PMID:15256090 PMID:16474097 PMID:18094012 PMID:20220260 PMID:23454776 |
RGD:4145638 RGD:4892088 RGD:4892093 RGD:4892108 RGD:8551842 |
NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
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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 1:54,932,798...54,960,646
Ensembl chr 1:54,932,690...54,959,740
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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 chr 9:22,077,976...22,092,818
Ensembl chr 9:22,068,775...22,090,656
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G |
CCR8 |
C-C motif chemokine receptor 8 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:15993846 |
RGD:2306304 |
NCBI chr23:9,013,242...9,019,513
Ensembl chr23:9,018,060...9,018,589
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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 chr20:42,607,024...42,616,823
Ensembl chr20:42,607,024...42,616,823
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G |
CD14 |
CD14 molecule |
severity no_association susceptibility |
ISO |
protein:increased expression:serum protein:increased expression:serum|DNA:polymorphism:promoter:c. -159C>T (human) DNA:polymorphism:promoter:c. -260C>T (human) CTD Direct Evidence: marker/mechanism DNA:SNPs: : |
RGD CTD |
PMID:15741437 PMID:15940135 PMID:16387800 PMID:17607003 PMID:18312481 PMID:19096003 More...
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RGD:4144208 RGD:4144228 RGD:4144813 RGD:4144814 RGD:4144815 |
NCBI chr 2:35,790,505...35,792,967
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G |
CD1D |
CD1d molecule |
susceptibility |
ISO |
associated with fasciolopsiasis |
RGD |
PMID:20304473 |
RGD:4140417 |
NCBI chr38:23,489,169...23,491,712
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G |
CD209 |
CD209 molecule |
|
ISO |
|
RGD |
PMID:21471959 |
RGD:5131188 |
NCBI chr20:52,517,759...52,542,085
Ensembl chr20:52,518,036...52,520,942
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G |
CD274 |
CD274 molecule |
treatment |
ISO |
associated with Chlamydia pneumonia |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
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G |
CD28 |
CD28 molecule |
|
ISO |
|
RGD |
PMID:21356099 |
RGD:5131612 |
NCBI chr37:12,503,849...12,536,362
Ensembl chr37:12,503,811...12,532,854
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G |
CD40 |
CD40 molecule |
treatment |
ISO |
|
RGD |
PMID:19159017 PMID:19220210 PMID:20205594 PMID:20941750 |
RGD:4144188 RGD:4892277 RGD:5132272 RGD:8547792 |
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
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G |
CD40LG |
CD40 ligand |
severity |
ISO |
|
RGD |
PMID:9502776 |
RGD:11352238 |
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
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G |
CD80 |
CD80 molecule |
|
ISO |
|
RGD |
PMID:21051864 PMID:21352203 PMID:21440530 |
RGD:5132619 RGD:5132620 RGD:5132621 |
NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380
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G |
CD86 |
CD86 molecule |
treatment |
ISO |
protein:increased expression:blood, B cell (human) protein:increased expression:lung, dendritic cell (rat) DNA:snp:exon:p.I179V rs2681417 (human) protein:increased expression:lung, alveolar macrophage (mouse) |
RGD |
PMID:9449507 PMID:9551945 PMID:17513529 PMID:20668438 PMID:20941750 PMID:25344652 More...
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RGD:11354965 RGD:4892199 RGD:4892202 RGD:4892277 RGD:4892280 RGD:4892555 |
NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
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G |
CDH1 |
cadherin 1 |
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ISO |
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RGD |
PMID:21540309 |
RGD:5132878 |
NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
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G |
CDHR3 |
cadherin related family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24241537 |
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NCBI chr18:14,437,083...14,497,711
Ensembl chr18:14,437,751...14,497,646
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G |
CFTR |
CF transmembrane conductance regulator |
susceptibility |
ISO |
DNA:deletion: :p.F508del(human) |
RGD |
PMID:20298391 |
RGD:4140387 |
NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977
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G |
CHAT |
choline O-acetyltransferase |
|
ISO |
Protein:decreased expression:lung epithelium |
RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr28:1,480,364...1,528,858
Ensembl chr28:1,482,202...1,528,776
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G |
CHI3L1 |
chitinase 3 like 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 7 |
OMIM ClinVar |
PMID:18403759 |
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NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427
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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:14734765 PMID:15192232 PMID:16179638 PMID:19548841 PMID:20226308 |
RGD:4985150 RGD:4990463 RGD:4996473 RGD:5024921 RGD:5024922 |
NCBI chr 6:40,754,906...40,766,779
Ensembl chr 6:40,754,993...40,766,891
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G |
CHML |
CHM like Rab escort protein |
|
ISO |
|
RGD |
PMID:18343558 |
RGD:5133238 |
NCBI chr 7:33,027,051...33,040,711
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G |
CHRM1 |
cholinergic receptor muscarinic 1 |
|
ISO |
|
RGD |
PMID:16931638 |
RGD:5133416 |
NCBI chr18:53,783,938...53,797,750
Ensembl chr18:53,795,326...53,796,708
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G |
CHRM2 |
cholinergic receptor muscarinic 2 |
|
ISO |
DNA:SNP: :rs6962027 (human) |
RGD |
PMID:19308904 |
RGD:5509586 |
NCBI chr16:11,515,727...11,665,651
Ensembl chr16:11,515,426...11,664,977
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G |
CHRM3 |
cholinergic receptor muscarinic 3 |
severity |
ISO |
|
RGD |
PMID:18348887 PMID:20394512 |
RGD:5133437 RGD:5133438 |
NCBI chr 4:504,663...999,550
Ensembl chr 4:506,990...520,613
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G |
CHUK |
component of inhibitor of nuclear factor kappa B kinase complex |
|
ISO |
|
RGD |
PMID:21496385 |
RGD:5133703 |
NCBI chr28:12,964,670...13,001,557
Ensembl chr28:12,965,479...13,001,512
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G |
CLCA1 |
chloride channel accessory 1 |
susceptibility |
ISO |
DNA:SNPs (human) |
RGD |
PMID:11296262 PMID:15318163 PMID:17898169 |
RGD:4145653 RGD:4145656 RGD:4145661 |
NCBI chr 6:61,620,755...61,650,111
Ensembl chr 6:61,620,995...61,650,083
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G |
CLDN18 |
claudin 18 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27215490 |
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NCBI chr23:34,229,115...34,257,431
Ensembl chr23:34,228,992...34,255,650
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G |
CMA1 |
chymase 1 |
severity no_association susceptibility |
ISO |
protein:increased expression:lung epithelium, mast cell (human) DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) DNA:duplications:3' utr:g.*254-?dupTG, dupGA (human) |
RGD |
PMID:15248847 PMID:15924217 PMID:20813890 |
RGD:1625396 RGD:1625397 RGD:5128804 |
NCBI chr 8:4,438,244...4,441,189
Ensembl chr 8:4,438,244...4,441,189
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G |
CRHR1 |
corticotropin releasing hormone receptor 1 |
|
ISO |
DNA:SNPs: :rs1876828, rs242939, rs242941 (human) DNA:SNP: :RS242941 (human) |
RGD |
PMID:16113459 PMID:19663668 |
RGD:5147485 RGD:5147488 |
NCBI chr 9:9,708,696...9,763,281
Ensembl chr 9:9,714,204...9,763,402
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G |
CRHR2 |
corticotropin releasing hormone receptor 2 |
|
ISO |
DNA:SNPs: :multiple (human) |
RGD |
PMID:18408560 |
RGD:5130938 |
NCBI chr14:43,366,849...43,414,398
Ensembl chr14:43,368,340...43,415,142
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G |
CRP |
C-reactive protein |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21140796 |
RGD:5131288 |
NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
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G |
CSF2 |
colony stimulating factor 2 |
severity |
ISO |
protein:increased expression:lung protein:increased expression:sputum |
RGD |
PMID:9717963 PMID:19213775 PMID:20405019 |
RGD:10449521 RGD:5131473 RGD:5131476 |
NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959
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G |
CSF2RB |
colony stimulating factor 2 receptor subunit beta |
|
ISO |
|
RGD |
PMID:17145927 |
RGD:1601020 |
NCBI chr10:27,541,645...27,566,907
Ensembl chr10:27,541,647...27,567,278
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G |
CSF3 |
colony stimulating factor 3 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:20405019 PMID:21396376 |
RGD:5131473 RGD:5133731 |
NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
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G |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
severity treatment no_association |
ISO |
DNA:SNPs: :multiple (human) DNA:polymorphisms:promoter, exon:-318C>T 49A>G (human) DNA:polymorphism:promoter:-318C>T (human) CTD Direct Evidence: marker/mechanism DNA:SNP: :rs3087243 (human) DNA:SNPs:promoter, exon:-1147C>T, -318C>T, 49A>G (human) protein:increased expression:serum |
RGD CTD |
PMID:11726402 PMID:12114354 PMID:12956753 PMID:15316504 PMID:15871446 PMID:16677453 PMID:16708626 PMID:16926542 PMID:17237396 PMID:17469155 PMID:18699801 PMID:19895365 PMID:28807506 More...
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RGD:11344922 RGD:4891510 RGD:4891514 RGD:4891516 RGD:4891517 RGD:4891519 RGD:4891521 RGD:4891522 RGD:4891526 RGD:4891527 RGD:4891528 RGD:4891529 |
NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
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G |
CTNNA3 |
catenin alpha 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19187332 |
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NCBI chr 4:17,364,121...19,035,836
Ensembl chr 4:17,372,245...19,017,093
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G |
CX3CL1 |
C-X3-C motif chemokine ligand 1 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:14657873 |
RGD:4891906 |
NCBI chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095
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G |
CX3CR1 |
C-X3-C motif chemokine receptor 1 |
no_association |
ISO |
DNA:SNPs: :p.V249I, rs2669849 (human) DNA:polymorphisms: :p.V249I, p.T280M (human) |
RGD |
PMID:17082760 PMID:17505143 PMID:21037587 |
RGD:4891882 RGD:4891895 RGD:4891904 |
NCBI chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808
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G |
CXCL10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
protein:decreased expression:plasma |
RGD |
PMID:11994485 PMID:16602032 PMID:17302903 |
RGD:5135439 RGD:5135452 RGD:5135457 |
NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979
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G |
CXCL14 |
C-X-C motif chemokine ligand 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21150878 |
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NCBI chr11:23,598,640...23,606,850
Ensembl chr11:23,599,645...23,606,823
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G |
CXCR3 |
C-X-C motif chemokine receptor 3 |
susceptibility severity |
ISO |
protein:decreased expression:respiratory system fluid/secretion, T cell DNA:SNP:intron:IVS1+234G>A (human) |
RGD |
PMID:16043121 PMID:16548899 PMID:17641057 PMID:18094012 |
RGD:4892088 RGD:5135484 RGD:5143932 RGD:5143934 |
NCBI chr X:55,882,433...55,884,582
Ensembl chr X:55,882,433...55,884,582
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G |
CYBA |
cytochrome b-245 alpha chain |
susceptibility |
ISO |
DNA:SNPs: :-930A>G, 242C>T, 640A>G (human) DNA:polymorphism: :-930A>G (human) |
RGD |
PMID:18716406 PMID:19459419 |
RGD:4311041 RGD:4772770 |
NCBI chr 5:64,692,865...64,701,056
Ensembl chr 5:64,692,123...64,704,893
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G |
CYP1A1 |
cytochrome P450 family 1 subfamily A member 1 |
|
ISO |
mRNA, protein:increased expression, decreased activity:lung |
RGD |
PMID:12415424 |
RGD:4892074 |
NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
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G |
CYP2D15 |
cytochrome P450 family 2 subfamily D member 15 |
|
ISO |
DNA:polymorphism: :1934G>A (human) |
RGD |
PMID:19575027 |
RGD:5143944 |
NCBI chr10:23,255,259...23,259,380
Ensembl chr10:23,255,249...23,259,298
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G |
CYP2E1 |
cytochrome P450 family 2 subfamily E member 1 |
|
ISO |
mRNA:decreased expression:leukocyte CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:17081494 PMID:20514434 PMID:28807506 |
RGD:4892076 RGD:4892220 |
NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754
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G |
CYSLTR1 |
cysteinyl leukotriene receptor 1 |
no_association severity |
ISO |
DNA:SNP: :927T>C (human) DNA:SNPs:promoter, exon:multiple (human) DNA:SNPs:promoter:-634C>T, -475A>C, -336A>G (human) mRNA, protein:increased expression:respiratory system mucosa |
RGD |
PMID:8087328 PMID:11591188 PMID:16123393 PMID:16387808 PMID:16630147 PMID:16771777 PMID:16776674 PMID:17153879 PMID:17689528 More...
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RGD:4781449 RGD:4781742 RGD:4782072 RGD:4784257 RGD:4843543 RGD:4847129 RGD:4848936 RGD:4888514 RGD:4889116 |
NCBI chr X:60,462,290...60,513,155
Ensembl chr X:60,463,526...60,464,548
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G |
CYSLTR2 |
cysteinyl leukotriene receptor 2 |
|
ISO |
DNA:polymorphism: :-1220A>C (human) DNA:polymorphism: :601A>G (human) |
RGD |
PMID:15454733 PMID:15475736 |
RGD:5144002 RGD:5144003 |
NCBI chr22:2,914,960...2,962,517
Ensembl chr22:2,917,514...2,918,551
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G |
DCN |
decorin |
|
ISO |
|
RGD |
PMID:16387756 |
RGD:2311423 |
NCBI chr15:31,833,492...31,887,699
Ensembl chr15:31,833,746...31,877,417
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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:4892254 RGD:4892263 |
NCBI chr16:58,871,018...58,881,592
Ensembl chr16:58,871,018...58,881,592
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G |
DLA-DQA1 |
major histocompatibility complex, class II, DQ alpha 1 |
susceptibility |
ISO |
DNA:polymorphism: :rs3916765(human) |
RGD |
PMID:20159242 |
RGD:13506913 |
NCBI chr12:2,221,181...2,227,600
Ensembl chr12:2,221,137...2,227,600
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G |
DLA-DRA |
MHC class II DR alpha chain |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:20159242 |
RGD:13506913 |
NCBI chr12:2,133,026...2,137,825
Ensembl chr12:2,132,499...2,168,975
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G |
DLA88 |
MHC class I DLA-88 |
susceptibility |
ISO |
DNA:polymorphism: |
RGD |
PMID:28380482 |
RGD:13506910 |
NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690
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G |
DNAH5 |
dynein axonemal heavy chain 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
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NCBI chr34:816,088...1,040,052
Ensembl chr34:805,455...1,038,273
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G |
DNMT1 |
DNA methyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA,mRNA:hypermethylation,decreased expression:promoter,respiratory tract: |
CTD RGD |
PMID:23196709 PMID:23423710 |
RGD:9588646 |
NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
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G |
DPP10 |
dipeptidyl peptidase like 10 |
|
ISO |
DNA:SNP:exon (human) protein:increased expression:bronchus DNA:SNP: :rs10208402 (human) DNA:SNPs (human) |
RGD |
PMID:14566338 PMID:17967935 PMID:19672052 PMID:21103062 |
RGD:4889866 RGD:4892275 RGD:4892276 RGD:4892278 |
NCBI chr19:33,432,091...34,707,133
Ensembl chr19:33,434,154...34,706,758
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G |
EBI3 |
Epstein-Barr virus induced 3 |
|
ISO |
|
RGD |
PMID:21255010 |
RGD:5128488 |
NCBI chr20:55,382,975...55,391,252
Ensembl chr20:55,383,247...55,390,336
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G |
EDN1 |
endothelin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism Severe Persistent Allergic Asthma; protein:increased secretion:lung (human) DNA:transition:intron:g.4124T>C (human) |
CTD RGD |
PMID:11668616 PMID:16981460 PMID:20588001 |
RGD:4144869 RGD:4144895 |
NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
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G |
EDNRA |
endothelin receptor type A |
|
ISO |
|
RGD |
PMID:17448648 PMID:18632188 |
RGD:4892288 RGD:4892322 |
NCBI chr15:45,823,472...45,878,527
Ensembl chr15:45,823,560...45,876,463
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G |
EDNRB |
endothelin receptor type B |
|
ISO |
mRNA:increased expression:bronchus, smooth muscle cell DNA:polymorphism (human) |
RGD |
PMID:15245576 PMID:17470272 PMID:18632188 |
RGD:4892288 RGD:4892321 RGD:4892324 |
NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587
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G |
EGFR |
epidermal growth factor receptor |
severity |
ISO |
protein:increased expression:lung epithelium (rat) protein:increased expression:lung epithelium (mouse) protein:increased expression:bronchial epithelium (human) |
RGD |
PMID:12580917 PMID:19954006 PMID:21072743 PMID:21224214 |
RGD:5131468 RGD:5131633 RGD:5131642 RGD:5131870 |
NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
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G |
EGR1 |
early growth response 1 |
|
ISO |
DNA:snp:5' utr:g.-4071A>G rs7729723 (human) mRNA:increased expression:bronchoalveolar lavage cell (human) |
RGD |
PMID:11254538 PMID:18507785 PMID:18774390 |
RGD:5130915 RGD:5131985 RGD:5131993 |
NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575
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G |
ELP1 |
elongator acetyltransferase complex subunit 1 |
no_association |
ISO |
|
RGD |
PMID:11281413 PMID:12774215 |
RGD:5129157 RGD:5129158 |
NCBI chr11:64,035,667...64,094,402
Ensembl chr11:64,037,506...64,093,819
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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 chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238
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G |
EPX |
eosinophil peroxidase |
severity disease_progression |
ISO |
protein:increased activity:sputum,nasal,pharyngeal mucosa |
RGD |
PMID:12199967 PMID:20813885 PMID:26645423 |
RGD:11574908 RGD:13506891 RGD:13506892 |
NCBI chr 9:32,855,568...32,865,445
Ensembl chr 9:32,855,507...32,865,022
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G |
ESR2 |
estrogen receptor 2 |
|
ISO |
mRNA:decreased expression:lung (rat) |
RGD |
PMID:18375789 |
RGD:8694127 |
NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
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G |
F2 |
coagulation factor II, thrombin |
|
ISO |
associated with Rhinosinusitis, associated with Nasal Polyps;protein:increased expression:nasal mucus protein:increased expression:plasma |
RGD |
PMID:21658190 PMID:21711961 |
RGD:5147753 RGD:5147783 |
NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
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G |
F2RL1 |
F2R like trypsin receptor 1 |
|
ISO |
|
RGD |
PMID:19864598 |
RGD:4892589 |
NCBI chr 3:29,801,119...29,810,006
Ensembl chr 3:29,800,211...29,810,180
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G |
F7 |
coagulation factor VII |
treatment |
ISO |
|
RGD |
PMID:24523826 |
RGD:11040539 |
NCBI chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024
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G |
FAS |
Fas cell surface death receptor |
|
ISO |
mRNA:increased expression:eosinophil |
RGD |
PMID:16337971 |
RGD:1600350 |
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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G |
FCER1A |
Fc epsilon receptor Ia |
severity |
ISO |
Asthma symptoms persistent despite steroids Fatal asthma subjects |
RGD |
PMID:20937062 PMID:21388666 |
RGD:5128711 RGD:5128717 |
NCBI chr38:22,683,478...22,688,842
Ensembl chr38:22,683,477...22,690,763
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G |
FCGR2B |
Fc fragment of IgG receptor IIb |
|
ISO |
|
RGD |
PMID:20179765 |
RGD:11344929 |
NCBI chr38:20,980,777...20,994,403
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G |
FGA |
fibrinogen alpha chain |
treatment |
ISO |
|
RGD |
PMID:24523826 |
RGD:11040539 |
NCBI chr15:52,238,305...52,247,017
Ensembl chr15:52,236,198...52,246,975
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G |
FKBP5 |
FKBP prolyl isomerase 5 |
|
ISO |
ClinVar Annotator: match by term: Asthma |
ClinVar |
|
|
NCBI chr12:4,724,668...4,833,691
Ensembl chr12:4,727,497...4,833,323
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G |
FOXP3 |
forkhead box P3 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27633092 PMID:27965764 PMID:28944907 PMID:29317916 |
RGD:38548920 RGD:38549365 |
NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758
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G |
GATA3 |
GATA binding protein 3 |
|
ISO |
|
RGD |
PMID:9949310 PMID:18186587 |
RGD:5128802 RGD:5128803 |
NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760
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G |
GC |
GC vitamin D binding protein |
|
ISO |
protein, mRNA:increased expression:bronchoalveolar lavage fluid: |
RGD |
PMID:21169467 |
RGD:5509920 |
NCBI chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929
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G |
GSDMB |
gasdermin B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24241537 |
|
NCBI chr 9:22,604,358...22,616,540
|
|
G |
GSTO2 |
glutathione S-transferase omega 2 |
susceptibility |
ISO |
DNA:polymorphism:exon:p. N142D (human) |
RGD |
PMID:20374258 |
RGD:5490988 |
NCBI chr28:16,580,250...16,604,977
Ensembl chr28:16,586,777...16,604,976
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G |
GSTP1 |
glutathione S-transferase pi 1 |
susceptibility severity no_association disease_progression |
ISO |
DNA:SNP: :p.A114V (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:intron,exon:(rs749174), (rs1138272)(human) DNA:polymorphism:exon:p.I105V (rs1695) (human) DNA:SNPs:exons:p.I105V (rs1695), A114V (rs1138272) (human) DNA:SNPs: :p.I105V, p.A114V (human) DNA:polymorphism:exon:p.I105V (human) |
RGD CTD |
PMID:10806136 PMID:11994713 PMID:15693909 PMID:16176403 PMID:16870661 PMID:18057098 PMID:18709160 PMID:18787219 PMID:18988661 PMID:20210814 PMID:20858151 PMID:24117884 PMID:29411558 More...
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RGD:4140946 RGD:4140947 RGD:4140951 RGD:4142519 RGD:4142526 RGD:5490985 RGD:5490991 RGD:5490999 |
NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
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HAVCR1 |
hepatitis A virus cellular receptor 1 |
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ISO |
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RGD |
PMID:20628202 |
RGD:5128851 |
NCBI chr 4:53,012,223...53,066,611
Ensembl chr 4:53,046,970...53,128,952 Ensembl chr 4:53,046,970...53,128,952
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HAVCR2 |
hepatitis A virus cellular receptor 2 |
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ISO |
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RGD |
PMID:17517968 |
RGD:5135525 |
NCBI chr 4:53,018,990...53,032,035
Ensembl chr 4:53,012,234...53,033,393
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G |
HDAC2 |
histone deacetylase 2 |
|
ISO |
mRNA:decreased expression:macrophage: |
RGD |
PMID:20538962 |
RGD:9590321 |
NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578
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G |
HDC |
histidine decarboxylase |
|
ISO |
associated with Rhinitis;DNA:SNP: :p.E644D (rs2073440) (human) |
RGD |
PMID:20608921 |
RGD:5128884 |
NCBI chr30:16,201,222...16,223,452
Ensembl chr30:16,201,589...16,223,662
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G |
HIF1A |
hypoxia inducible factor 1 subunit alpha |
treatment |
ISO |
|
RGD |
PMID:18160846 |
RGD:10402541 |
NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
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G |
HLA-DRB1 |
MHC class II DLA DRB1 beta chain |
no_association susceptibility severity |
ISO |
CTD Direct Evidence: marker/mechanism DNA:polymorphism (human) DNA:polymorphisms: : |
CTD RGD |
PMID:10051703 PMID:16792590 PMID:19439981 PMID:19528258 PMID:20159242 PMID:20214848 PMID:20486920 PMID:23331206 More...
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RGD:1331670 RGD:13506906 RGD:13506913 RGD:4144181 RGD:4144196 RGD:5147607 RGD:5147663 |
NCBI chr12:2,151,409...2,164,564
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G |
HMGCR |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
ISO |
|
RGD |
PMID:20084838 |
RGD:5508450 |
NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
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G |
HMOX1 |
heme oxygenase 1 |
severity |
ISO |
mRNA;protein:increased expression:Leukocytes, Mononuclear CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:16196283 PMID:18048809 PMID:20596599 |
RGD:4145403 RGD:4145408 |
NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
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G |
HNMT |
histamine N-methyltransferase |
susceptibility no_association |
ISO |
ClinVar Annotator: match by term: Asthma, susceptibility to |
OMIM ClinVar RGD |
PMID:10752634 PMID:10803682 PMID:15693910 PMID:16205835 PMID:17651147 |
RGD:5128885 RGD:5128887 RGD:5128888 |
NCBI chr19:40,656,266...40,702,498
Ensembl chr19:40,655,161...40,702,218
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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 chr 5:81,966,397...81,970,301
Ensembl chr 5:81,966,937...81,968,991
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G |
HTR2A |
5-hydroxytryptamine receptor 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25322896 |
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NCBI chr22:4,453,715...4,510,934
Ensembl chr22:4,453,715...4,511,037
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G |
ICAM1 |
intercellular adhesion molecule 1 |
|
ISO |
mRNA:increased expression:aorta (mouse) protein:increased expression:lung, serum (rat) CTD Direct Evidence: marker/mechanism protein:increased secretion:lung (human) |
RGD CTD |
PMID:17014439 PMID:20205697 PMID:20400685 PMID:20953388 PMID:25003170 |
RGD:4145331 RGD:4145444 RGD:4145509 |
NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
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G |
IFNG |
interferon gamma |
resistance treatment |
ISO |
protein:increased expression:sputum |
RGD |
PMID:12396623 PMID:19542437 PMID:20817868 PMID:20953328 |
RGD:10755706 RGD:4145525 RGD:4145651 RGD:5128479 |
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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G |
IFNGR1 |
interferon gamma receptor 1 |
|
ISO |
DNA: SNP: Leu467Pro |
RGD |
PMID:12851715 PMID:21737883 |
RGD:6480255 RGD:6480431 |
NCBI chr 1:29,646,776...29,669,669
Ensembl chr 1:29,647,552...29,669,578
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G |
IFNL3 |
interferon lambda 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22295096 |
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G |
IKZF3 |
IKAROS family zinc finger 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25256354 |
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NCBI chr 9:22,643,482...22,733,988
Ensembl chr 9:22,643,640...22,728,385
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G |
IL10 |
interleukin 10 |
treatment susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism protein:decreased expression:plasma DNA:polymorphism: :-627C>A (human) |
RGD CTD |
PMID:12938145 PMID:20121766 PMID:20230687 PMID:20237464 PMID:20560982 PMID:20644177 PMID:21998459 PMID:29317916 More...
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RGD:11046261 RGD:4140421 RGD:4140451 RGD:4140459 RGD:4140471 RGD:4143221 RGD:5131623 |
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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G |
IL12A |
interleukin 12A |
|
ISO |
|
RGD |
PMID:17056578 PMID:17548618 |
RGD:4373570 RGD:4438438 |
NCBI chr34:26,125,529...26,133,546
Ensembl chr34:26,124,770...26,133,550
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G |
IL12B |
interleukin 12B |
susceptibility severity |
ISO |
DNA:polymorphisms:promoter, 3'utr: ClinVar Annotator: match by term: Asthma, susceptibility to DNA:polymorphisms:introns: DNA:polymorphism:promoter |
RGD ClinVar |
PMID:12241719 PMID:15322986 PMID:16210052 |
RGD:1600043 RGD:4145428 RGD:4145438 |
NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228
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G |
IL13 |
interleukin 13 |
susceptibility severity no_association |
ISO |
ClinVar Annotator: match by term: Asthma, susceptibility to DNA:polymorphism:cds:p.R130Q (human) protein:increased expression:sputum protein:increased expression:serum DNA:polymorphism: :c.-1055C>T (human) |
OMIM ClinVar RGD |
PMID:10699178 PMID:11588017 PMID:11678850 PMID:11709756 PMID:11758895 PMID:12847555 PMID:12928861 PMID:15356556 PMID:15483090 PMID:15711639 PMID:15879126 PMID:18258919 PMID:18328894 PMID:20198887 More...
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RGD:4145593 RGD:4145639 RGD:4145777 RGD:4763153 RGD:4763761 |
NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
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G |
IL13RA1 |
interleukin 13 receptor subunit alpha 1 |
no_association |
ISO |
DNA:polymorphism: :1050C>T (human) mRNA:increased expression:bronchus DNA:polymorphism: :1398A>G (human) DNA:polymorphisms:promoter, 3' utr:-281T>G, 1365A>G (human) |
RGD |
PMID:10686479 PMID:11714828 PMID:17006604 PMID:17392323 PMID:18480254 PMID:20383033 More...
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RGD:4892639 RGD:4892646 RGD:4892647 RGD:4892650 RGD:4892654 RGD:4892655 |
NCBI chr X:90,925,497...90,981,855
Ensembl chr X:90,924,801...90,979,963
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G |
IL13RA2 |
interleukin 13 receptor subunit alpha 2 |
|
ISO |
mRNA:increased expression:bronchus protein:increased expression:serum |
RGD |
PMID:17885690 PMID:20383033 PMID:21462799 |
RGD:4892646 RGD:4892649 RGD:8549521 |
NCBI chr X:87,747,373...87,776,797
Ensembl chr X:87,747,373...87,776,798
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G |
IL15 |
interleukin 15 |
no_association |
ISO |
DNA:SNPs: :multiple (human) |
RGD |
PMID:11160248 PMID:15131572 PMID:15843549 PMID:16629787 PMID:19133918 |
RGD:4984421 RGD:4990462 RGD:5000757 RGD:5000758 RGD:5000760 |
NCBI chr19:1,339,607...1,364,762
Ensembl chr19:1,339,967...1,364,762
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G |
IL16 |
interleukin 16 |
no_association severity |
ISO |
associated with Rhinitis;protein:increased expression:respiratory system fluid/secretion DNA:SNP:promoter:-295T>C (human) protein:increased expression:serum |
RGD |
PMID:10585533 PMID:12872394 PMID:15784111 PMID:16387589 PMID:16734115 |
RGD:5024928 RGD:5024930 RGD:5024934 RGD:5024935 RGD:5024937 |
NCBI chr 3:56,473,485...56,575,504
Ensembl chr 3:56,473,486...56,575,104
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G |
IL17A |
interleukin 17A |
susceptibility |
ISO |
mRNA,protein:increased expression:Leukocytes, Mononuclear, lung, serum DNA:SNP:promoter:rs2275913 (human) protein:increased expression:alveolar macrophage protein:increased expression:sputum |
RGD |
PMID:15730730 PMID:18060619 PMID:18941201 PMID:20351038 PMID:20437253 |
RGD:4839043 RGD:4888527 RGD:4889114 RGD:4889139 RGD:4889152 |
NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
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G |
IL17RB |
interleukin 17 receptor B |
|
ISO |
associated with Picornaviridae Infections |
RGD |
PMID:25273095 |
RGD:39128256 |
NCBI chr20:36,135,620...36,148,923
Ensembl chr20:36,135,619...36,148,490
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G |
IL18 |
interleukin 18 |
susceptibility severity disease_progression |
ISO |
DNA:SNP:promoter:c.and -137G>C (rs187238)(human) DNA:SNP:promoter: c.-380C>G (rs5744247)(human) DNA:SNPs:Promoter:c. -607C>A (rs1946518), -137G/C (rs187238) (human) DNA:polymorphism: :c. -105A>C (human) protein:increased expression:serum |
RGD |
PMID:11174201 PMID:16433859 PMID:17767553 PMID:18200581 PMID:18826499 PMID:19745201 PMID:20497957 More...
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RGD:4889585 RGD:4889863 RGD:4889898 RGD:4889900 RGD:4889908 RGD:4889910 RGD:4889923 |
NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
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G |
IL18R1 |
interleukin 18 receptor 1 |
|
ISO |
DNA:SNPs: :multiple (human) DNA:SNP: :rs3771166 (human) |
RGD |
PMID:11972614 PMID:18382474 PMID:18774397 PMID:19910030 PMID:20860503 |
RGD:5024942 RGD:5024945 RGD:5024946 RGD:5024947 RGD:5024948 |
NCBI chr10:40,614,336...40,653,300
Ensembl chr10:40,615,312...40,653,454
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G |
IL19 |
interleukin 19 |
|
ISO |
mRNA, protein:increased expression:lung, serum protein:increased expression:serum |
RGD |
PMID:15557163 |
RGD:5037236 |
NCBI chr 7:6,000,994...6,006,959
Ensembl chr 7:6,000,907...6,006,870
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G |
IL1A |
interleukin 1 alpha |
|
ISO |
DNA:polymorphisms: : |
RGD |
PMID:18763028 |
RGD:4142802 |
NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
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G |
IL1B |
interleukin 1 beta |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism protein:decreased expression:neutrophil DNA:polymorphism: :-511C>T (human) |
CTD RGD |
PMID:9176529 PMID:18926055 PMID:19684087 PMID:19842845 |
RGD:4142830 RGD:4142836 RGD:4142864 |
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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G |
IL1RL1 |
interleukin 1 receptor like 1 |
susceptibility severity |
ISO |
protein:increased expression:serum DNA:SNP: :rs1420101 (human) DNA:SNP: :rs10197862 (human) DNA:SNPs:intron:rs1420089, rs1861245,rs1946131 (human) DNA:SNP: :rs1041973 (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:11463601 PMID:17407196 PMID:17623648 PMID:19179489 PMID:19198610 PMID:19852851 PMID:21150878 PMID:21281963 PMID:21804549 PMID:24241537 PMID:27472835 More...
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RGD:5144235 RGD:5144237 RGD:5144239 RGD:5144240 RGD:5144242 RGD:5144243 RGD:5144244 RGD:5144245 |
NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357
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G |
IL1RN |
interleukin 1 receptor antagonist |
susceptibility severity |
ISO |
DNA:SNPs: :rs447713, rs3087271 (human) DNA, protein:repeat, decreased expression (human) protein:increased expression:plasma DNA:SNPs: :multiple (human) DNA:SNP: :rs2234678 (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:intron (human) |
RGD CTD |
PMID:9176529 PMID:10843772 PMID:11027520 PMID:15020290 PMID:16409203 PMID:16724092 PMID:17107994 PMID:18763028 PMID:18926055 More...
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RGD:4142802 RGD:4142864 RGD:4143163 RGD:4143208 RGD:4143209 RGD:4143216 RGD:4143224 RGD:4143225 |
NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
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G |
IL2 |
interleukin 2 |
susceptibility |
ISO |
DNA:SNP:promoter:rs2069762(human) |
RGD |
PMID:16333313 PMID:20926789 |
RGD:4889118 RGD:8663473 |
NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
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G |
IL21 |
interleukin 21 |
|
ISO |
DNA:SNP:exon:5250C>T (human) |
RGD |
PMID:18802358 |
RGD:5147396 |
NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266
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G |
IL22 |
interleukin 22 |
severity treatment |
ISO |
mRNA:increased expression:blood, mononuclear cell protein:increased expression:serum |
RGD |
PMID:21297073 PMID:21535180 PMID:21998459 |
RGD:11046261 RGD:5147403 RGD:5147409 |
NCBI chr10:10,487,367...10,492,238
Ensembl chr10:10,487,262...10,492,371
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G |
IL23R |
interleukin 23 receptor |
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ISO |
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RGD |
PMID:19935773 |
RGD:5037240 |
NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474
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G |
IL25 |
interleukin 25 |
|
ISO |
mRNA, protein:increased expression:lung |
RGD |
PMID:25273095 |
RGD:39128256 |
NCBI chr 8:3,621,268...3,624,689
Ensembl chr 8:3,618,161...3,624,043
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G |
IL27 |
interleukin 27 |
treatment susceptibility |
ISO |
protein:increased expression:sputum DNA:SNP: :g.-964A>G (human) |
RGD |
PMID:17318299 PMID:17878337 PMID:19542437 PMID:20817868 PMID:26595888 |
RGD:11076728 RGD:4145651 RGD:5128479 RGD:5128485 RGD:5128491 |
NCBI chr 6:18,243,988...18,248,369
Ensembl chr 6:18,244,040...18,247,635
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G |
IL27RA |
interleukin 27 receptor subunit alpha |
|
ISO |
|
RGD |
PMID:16081811 |
RGD:5128496 |
NCBI chr20:48,456,766...48,475,414
Ensembl chr20:48,457,134...48,472,450
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G |
IL29L |
interleukin 29-like |
exacerbates |
ISO |
associated with common cold;protein:increased expression: nasal cavity (human) associated with common cold;mRNA:decreased expression:sputum (human) |
RGD |
PMID:22135341 PMID:25784275 |
RGD:126848770 RGD:126848775 |
NCBI chr24:36,440,445...36,441,017
Ensembl chr24:36,440,445...36,441,017
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G |
IL2RA |
interleukin 2 receptor subunit alpha |
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ISO |
|
RGD |
PMID:17351063 PMID:20525707 PMID:21377197 |
RGD:2325990 RGD:5147437 RGD:5147445 |
NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643
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G |
IL2RB |
interleukin 2 receptor subunit beta |
|
ISO |
DNA:SNP: :rs2284033 (human) |
RGD |
PMID:18641329 PMID:20860503 |
RGD:5024942 RGD:5147447 |
NCBI chr10:27,370,797...27,388,775
Ensembl chr10:27,370,797...27,388,775
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G |
IL3 |
interleukin 3 |
susceptibility |
ISO |
DNA:polymorphism:cds:+79T>C(S27P)(human) DNA:SNP: :rs40401(human) |
RGD |
PMID:15372320 PMID:24684517 |
RGD:13506914 RGD:13506916 |
NCBI chr11:20,330,480...20,332,668
Ensembl chr11:20,330,480...20,332,668
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G |
IL32 |
interleukin 32 |
|
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:22336080 |
RGD:150340749 |
NCBI chr 6:38,119,287...38,122,979
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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:25746970 PMID:27472835 PMID:28947081 PMID:29067999 More...
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RGD:39938968 RGD:39939002 |
NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
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G |
IL4 |
interleukin 4 |
treatment no_association |
ISO |
mRNA, protein:increase expression:leukocyte, serum protein:increased expression:respiratory system fluid/secretion DNA:polymorphism (human) DNA:SNP: :589C>T (human) CTD Direct Evidence: marker/mechanism protein:increased expression:lung mRNA:increased expression:lung, spleen |
RGD CTD |
PMID:18211752 PMID:18357729 PMID:20524005 PMID:21103062 PMID:21354484 PMID:21364926 PMID:21375458 PMID:24450480 PMID:24946644 More...
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RGD:10402791 RGD:10402799 RGD:2317290 RGD:4889866 RGD:5128500 RGD:5128502 RGD:5128557 RGD:5128560 |
NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
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G |
IL4R |
interleukin 4 receptor |
disease_progression susceptibility severity |
ISO |
DNA:SNPs:cds:p.E375A, Q551R (human) DNA:polymorphism::-1902G/A (human) DNA:SNPs: :multiple DNA:mutation:cds:p.Q576R (mouse) DNA:polymorphism:cds:p.Q551R (human) protein:increased secretion:plasma DNA:SNPs:cds:p. I75V, Q576R (human) DNA:polymorphism:cds:p.I50V (human) DNA:polymorphism:cds:p.Q576R (human) DNA:polymorphism:cds:p. S478P (human) |
RGD |
PMID:11398072 PMID:11709756 PMID:12133990 PMID:12940513 PMID:15479272 PMID:16917945 PMID:17170387 PMID:17586032 PMID:17823973 PMID:18425216 PMID:19770271 PMID:20605987 PMID:20868478 PMID:20953944 More...
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RGD:4890003 RGD:4890024 RGD:4890346 RGD:4890347 RGD:4890348 RGD:4890349 RGD:4890351 RGD:4890352 RGD:4890387 RGD:4890402 RGD:4890404 RGD:4890406 RGD:5128514 RGD:5128553 |
NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291
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G |
IL5 |
interleukin 5 |
treatment disease_progression |
ISO |
DNA:polymorphism:promoter:-703C>T (human) protein: increased levels: sputum CTD Direct Evidence: marker/mechanism protein:increased expression:lungs, respiratory system fluid/secretion protein:increased expression:respiratory system fluid/secretion |
RGD CTD |
PMID:7540862 PMID:9182686 PMID:9493449 PMID:11159041 PMID:15502111 PMID:15626484 PMID:17074272 PMID:18629290 PMID:19947994 PMID:22085848 PMID:22186238 PMID:23266719 PMID:25008888 More...
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RGD:11354973 RGD:4145461 RGD:4890938 RGD:4890940 RGD:4890947 RGD:4890948 RGD:4890962 RGD:4890963 RGD:5687140 RGD:5687144 RGD:5687189 |
NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
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G |
IL5RA |
interleukin 5 receptor subunit alpha |
|
ISO |
DNA:SNP: :c.25091G>A (human) DNA:SNPs (human) |
RGD |
PMID:10224351 PMID:10848907 PMID:16217591 PMID:17276963 PMID:20513521 PMID:20592918 More...
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RGD:5128614 RGD:5128617 RGD:5128623 RGD:5128625 RGD:5128626 RGD:5128627 |
NCBI chr20:14,309,805...14,349,433
Ensembl chr20:14,314,227...14,343,793
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G |
IL6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:lung associated with Hypersensitivity;protein:increased expression:sputum |
CTD RGD |
PMID:20658762 PMID:20816188 PMID:20840469 PMID:21115736 PMID:29902480 |
RGD:4143265 RGD:4143266 RGD:4143271 RGD:5128630 |
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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IL6R |
interleukin 6 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17496315 PMID:21115736 PMID:29902480 |
RGD:5128630 RGD:5128662 |
NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090
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G |
IL9 |
interleukin 9 |
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ISO |
protein:increased expression:sputum, macrophage, cytoplasm protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:12153980 PMID:15303135 PMID:15531759 PMID:17446528 PMID:21356110 |
RGD:5128686 RGD:5128690 RGD:5128691 RGD:5128700 RGD:5128707 |
NCBI chr11:23,808,919...23,814,085
Ensembl chr11:23,811,117...23,814,079
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IRAK3 |
interleukin 1 receptor associated kinase 3 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 5 |
OMIM ClinVar |
PMID:17503328 |
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NCBI chr10:8,683,541...8,730,757
Ensembl chr10:8,684,242...8,729,268
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G |
IRF1 |
interferon regulatory factor 1 |
susceptibility no_association |
ISO |
protein:increased expression:respiratory tract epithelium DNA:repeat:intron (human) DNA:polymorphisms:promoter, cds:-300G>T, 4396A>G, 6355G>A (human) |
RGD |
PMID:10225979 PMID:11069564 PMID:16961714 |
RGD:5128723 RGD:5128724 RGD:5128726 |
NCBI chr11:20,773,801...20,781,106
Ensembl chr11:20,760,120...20,781,608
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G |
IRF3 |
interferon regulatory factor 3 |
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ISO |
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RGD |
PMID:20673978 |
RGD:5128793 |
NCBI chr 1:106,875,016...106,879,065
Ensembl chr 1:106,875,118...106,879,065
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G |
ITGB3 |
integrin subunit beta 3 |
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ISO |
DNA:SNPs: : |
RGD |
PMID:17556058 |
RGD:5037230 |
NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451
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G |
ITPR1 |
inositol 1,4,5-trisphosphate receptor type 1 |
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ISO |
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RGD |
PMID:21777465 |
RGD:5147661 |
NCBI chr20:12,746,171...13,065,256
Ensembl chr20:12,747,315...13,064,198
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KDR |
kinase insert domain receptor |
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ISO |
associated with Rhinitis,Allergic,Seasonal;protein:increased expression:nasal cavity of mucosa: |
RGD |
PMID:17651148 PMID:20921519 |
RGD:5684385 RGD:8551771 |
NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
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G |
KIF3A |
kinesin family member 3A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
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NCBI chr11:20,988,516...21,044,151
Ensembl chr11:20,928,655...21,044,090
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G |
KRT19 |
keratin 19 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15478392 |
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NCBI chr 9:21,240,778...21,245,039
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LEP |
leptin |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:19705789 |
RGD:5128781 |
NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
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G |
LGALS3 |
galectin 3 |
treatment |
ISO |
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RGD |
PMID:16424226 |
RGD:9685213 |
NCBI chr 8:30,977,438...30,994,711
Ensembl chr 8:30,983,633...30,994,705
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G |
LOC102156778 |
bone marrow proteoglycan-like |
severity disease_progression no_association |
ISO |
mRNA:increased expression:eosinophil: associated with viral infection;mRNA:increased expression:sputum: associated with cough;protein:increased expression:sputum: |
RGD |
PMID:11067904 PMID:16982448 PMID:22022864 PMID:24450586 |
RGD:13506941 RGD:13506942 RGD:13506943 RGD:13506944 |
NCBI chr18:38,753,269...38,760,730
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LOC106557449 |
alveolar macrophage chemotactic factor-like |
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ISO |
mRNA:increased expression:bronchus epithelium |
RGD |
PMID:17234659 |
RGD:5135243 |
NCBI chr13:62,514,244...62,516,439
Ensembl chr13:62,513,898...62,515,218
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G |
LOC478984 |
low affinity immunoglobulin gamma Fc region receptor III |
susceptibility |
ISO |
DNA:polymorphism:exon:p.F158V(rs396991)(human) |
RGD |
PMID:18199088 |
RGD:5508449 |
NCBI chr38:21,054,870...21,060,948
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G |
LOC479911 |
glutathione S-transferase Mu 3 |
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ISO |
DNA:polymorphism |
RGD |
PMID:11470996 PMID:17550934 |
RGD:5135038 RGD:5135039 |
NCBI chr 6:42,187,869...42,191,274
Ensembl chr 6:42,187,967...42,191,273
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G |
LOC610540 |
pulmonary surfactant-associated protein A-like |
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ISO |
protein:decreased expression:lung mRNA, protein:increased expression:lung protein:decreased expression:lung, Clara cell, pneumocyte |
RGD |
PMID:15816355 PMID:16629790 PMID:18802356 PMID:18926058 |
RGD:4143289 RGD:4143398 RGD:4143462 RGD:4143516 |
NCBI chr 4:29,430,139...29,434,640
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G |
LOC611642 |
interleukin-9 receptor |
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ISO |
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RGD |
PMID:10629460 |
RGD:5128704 |
NCBI chr 6:40,425,072...40,437,917
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LTA |
lymphotoxin alpha |
susceptibility no_association |
ISO |
DNA:polymorphism:intron DNA:polymorphisms:promoter |
RGD |
PMID:12530118 PMID:15969671 PMID:17536219 PMID:18947013 |
RGD:4143254 RGD:4143370 RGD:4143371 RGD:4143373 |
NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
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G |
LTA4H |
leukotriene A4 hydrolase |
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ISO |
mRNA:increased expression:lung, cerebral cortex (rat) |
RGD |
PMID:15715933 |
RGD:2316607 |
NCBI chr15:35,795,934...35,830,681
Ensembl chr15:35,795,979...35,830,844
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G |
MBL1 |
mannose binding lectin 1 |
susceptibility |
ISO |
DNA:SNP:cds:p.G54D(human) associated with Bronchiolitis;DNA:polymorphism:exon: |
RGD |
PMID:22512728 PMID:22674410 |
RGD:12910828 RGD:8693709 |
NCBI chr 4:29,419,886...29,424,377
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MEFV |
MEFV innate immuity regulator, pyrin |
susceptibility |
ISO |
DNA:mutations:exons |
RGD |
PMID:18219832 |
RGD:5129186 |
NCBI chr 6:37,964,776...37,984,830
Ensembl chr 6:37,970,608...37,983,737
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G |
MIF |
macrophage migration inhibitory factor |
severity |
ISO |
protein:increased expression:bronchoalveolar lavage fluid DNA:repeats:promoter DNA:SNP:promoter:rs755622(human) |
RGD |
PMID:9637721 PMID:16186482 PMID:16455830 PMID:17373669 PMID:19317738 |
RGD:1641985 RGD:4891035 RGD:4891043 RGD:4891052 RGD:4891059 |
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G |
MMP1 |
matrix metallopeptidase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24469321 |
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NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
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G |
MMP9 |
matrix metallopeptidase 9 |
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ISO |
DNA:SNP: : rs2664538(human) protein:increased expression:lung protein:increased expression:serum mRNA, protein:increased expression:lung CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:11742282 PMID:15131573 PMID:16191269 PMID:19361849 PMID:19940022 PMID:20181264 PMID:21439806 More...
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RGD:2325953 RGD:5129204 RGD:5129522 RGD:5129687 RGD:5130859 |
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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G |
MPO |
myeloperoxidase |
susceptibility |
ISO |
protein:increased expression:serum DNA:polymorphism: :−463G > A (human) |
RGD |
PMID:10731862 PMID:19544176 |
RGD:5130989 RGD:5130994 |
NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820
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G |
MS4A2 |
membrane spanning 4-domains A2 |
susceptibility |
ISO |
DNA:SNP: : -109C>T (human) Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G DNA:SNPs:multiple:, rs573790, rs2583476, rs569108 DNA:SNPs: : rs556917, rs502581, rs502419 (human) |
RGD |
PMID:8817330 PMID:19218813 PMID:19862939 PMID:21320344 |
RGD:1599903 RGD:5131092 RGD:5131149 RGD:5131151 |
NCBI chr21:50,439,133...50,456,785
Ensembl chr21:50,450,024...50,456,785
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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 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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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 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690
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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 chr18:45,416,347...45,438,226
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G |
MUC5AC |
mucin 5AC, oligomeric mucus/gel-forming |
treatment |
ISO |
mRNA,protein:increased expression:lung mRNA, protein:increased expression:lung |
RGD |
PMID:14594655 PMID:17590487 PMID:17698377 PMID:21549818 PMID:21780541 |
RGD:2324962 RGD:5131204 RGD:7349354 RGD:7349407 RGD:7364729 |
NCBI chr18:45,471,232...45,498,961
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G |
MUC5B |
mucin 5B, oligomeric mucus/gel-forming |
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ISO |
protein:altered expression:sputum |
RGD |
PMID:11587997 PMID:11802783 |
RGD:5131252 RGD:7364763 |
NCBI chr18:45,517,479...45,545,765
Ensembl chr18:45,517,474...45,545,184
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G |
MUC7 |
mucin 7, secreted |
susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma, protection against |
OMIM ClinVar |
PMID:11378823 PMID:16759176 |
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NCBI chr13:59,805,768...59,813,415
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G |
MYB |
MYB proto-oncogene, transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19198610 |
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NCBI chr 1:27,908,309...27,991,984
Ensembl chr 1:27,908,364...27,991,969
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G |
MYD88 |
MYD88 innate immune signal transduction adaptor |
ameliorates |
ISO |
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RGD |
PMID:26882889 |
RGD:11531666 |
NCBI chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534
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G |
MYLK |
myosin light chain kinase |
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ISO |
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RGD |
PMID:17472811 |
RGD:4891492 |
NCBI chr33:26,663,991...26,867,370
Ensembl chr33:26,664,800...26,843,181
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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 chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
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G |
NGF |
nerve growth factor |
severity |
ISO |
protein:increased expression:lung, serum protein:increased expression:blood, eosinophil |
RGD |
PMID:11737043 PMID:12752594 PMID:17164945 PMID:17497413 |
RGD:4891068 RGD:4891108 RGD:4891122 RGD:4891123 |
NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
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G |
NGFR |
nerve growth factor receptor |
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ISO |
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RGD |
PMID:12540484 PMID:16603479 |
RGD:5144070 RGD:5144072 |
NCBI chr 9:25,598,468...25,621,021
Ensembl chr 9:25,601,074...25,623,274
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G |
NOD1 |
nucleotide binding oligomerization domain containing 1 |
susceptibility |
ISO |
DNA:SNP: :rs2075817 (human) DNA:insertion:cds: |
RGD |
PMID:15718249 PMID:16918516 |
RGD:5131518 RGD:5131519 |
NCBI chr14:43,162,671...43,226,948
Ensembl chr14:43,163,571...43,227,103
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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 chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232
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G |
NOS1 |
nitric oxide synthase 1 |
susceptibility |
ISO |
DNA:repeats:intron DNA:repeats:exon DNA:repeats: : |
RGD |
PMID:10673365 PMID:10833424 PMID:14767694 PMID:20609134 |
RGD:5132615 RGD:5132860 RGD:5132863 RGD:5132869 |
NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332
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G |
NOS2 |
nitric oxide synthase 2 |
severity no_association disease_progression |
ISO |
mRNA:increased expression:monocyte CTD Direct Evidence: marker/mechanism DNA:repeats:promoter, introns (human) protein:increased expression, increased activity:lung (rat) associated with Rhinitis, Allergic, Seasonal; protein:increased expression:nasal mucosa DNA:repeat:promoter DNA:SNP:exon:p.S608L (human) protein:increased expression:lung, bronchoalveolar lavage fluid |
RGD CTD |
PMID:16540403 PMID:16703578 PMID:17161822 PMID:17177683 PMID:17189532 PMID:18254476 PMID:18714530 PMID:19800904 PMID:20841959 PMID:20842520 PMID:21847581 More...
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RGD:4891419 RGD:4891480 RGD:4891508 RGD:4891910 RGD:4891924 RGD:4891925 RGD:4891927 RGD:4891953 RGD:4891957 RGD:5509073 |
NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
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G |
NOS3 |
nitric oxide synthase 3 |
susceptibility |
ISO |
DNA:snps, repeat, haplotype:promoter, introns, exons:multiple (human) DNA:repeats:intron DNA:polymorphisms:promoter:c. -786C>T, -691C>T (human) |
RGD |
PMID:16081038 PMID:16837812 PMID:18486767 |
RGD:4892053 RGD:4892058 RGD:4892062 |
NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
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G |
NPSR1 |
neuropeptide S receptor 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 2 |
OMIM ClinVar |
PMID:15073379 |
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NCBI chr14:46,465,169...46,610,256
Ensembl chr14:46,466,544...46,609,477
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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 chr14:37,824,579...37,831,289
Ensembl chr14:37,823,861...37,831,443
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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) |
RGD CTD |
PMID:19027876 PMID:19591959 PMID:20049212 |
RGD:5135005 RGD:5135006 |
NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860
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G |
NR3C1 |
nuclear receptor subfamily 3 group C member 1 |
treatment severity susceptibility |
ISO |
protein:increased expression, decreased activity:leukocyte, mononuclear DNA:polymorphism:intron |
RGD |
PMID:15295049 PMID:18396779 PMID:18799869 PMID:20727335 PMID:21113676 |
RGD:4892328 RGD:4892568 RGD:4892594 RGD:4892609 RGD:7174728 |
NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755
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G |
NTF3 |
neurotrophin 3 |
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ISO |
protein:increased expression:lung, serum |
RGD |
PMID:11737043 PMID:17497413 |
RGD:4891068 RGD:4891123 |
NCBI chr27:39,383,017...39,454,613
Ensembl chr27:39,383,152...39,454,601
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G |
NTF4 |
neurotrophin 4 |
|
ISO |
protein:increased expression:lung, serum |
RGD |
PMID:17497413 |
RGD:4891068 |
NCBI chr 1:107,371,335...107,377,238
Ensembl chr 1:107,371,335...107,376,987
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G |
NTRK1 |
neurotrophic receptor tyrosine kinase 1 |
|
ISO |
mRNA:increased expression:lung: |
RGD |
PMID:16708804 PMID:20934630 |
RGD:5684766 RGD:5684772 |
NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288
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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 chr 9:22,594,425...22,601,108
Ensembl chr 9:22,594,480...22,599,999
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G |
P2RY12 |
purinergic receptor P2Y12 |
|
ISO |
|
RGD |
PMID:19822647 PMID:22010907 |
RGD:6480532 RGD:6480533 |
NCBI chr23:45,908,574...45,954,675
Ensembl chr23:45,909,485...45,910,526
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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 |
RGD CTD |
PMID:12594058 PMID:18261157 PMID:26205779 |
RGD:11073727 RGD:5683910 |
NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127
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G |
PDCD1 |
programmed cell death 1 |
treatment |
ISO |
associated with Chlamydia pneumonia |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
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G |
PDE4B |
phosphodiesterase 4B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
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NCBI chr 5:44,063,145...44,606,070
Ensembl chr 5:44,065,106...44,500,999
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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 2:45,843,767...47,245,263
Ensembl chr 2:45,846,294...46,949,912
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G |
PDGFB |
platelet derived growth factor subunit B |
|
ISO |
protein: increased expression |
RGD |
PMID:21216974 |
RGD:6483071 |
NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
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G |
PGF |
placental growth factor |
|
ISO |
|
RGD |
PMID:22268141 |
RGD:6483605 |
NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170
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G |
PIK3CG |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
|
ISO |
|
RGD |
PMID:18754810 |
RGD:6482695 |
NCBI chr18:13,576,966...13,611,748
Ensembl chr18:13,570,999...13,611,141
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G |
PIN1 |
peptidylprolyl cis/trans isomerase, NIMA-interacting 1 |
|
ISO |
|
RGD |
PMID:18188456 |
RGD:8693422 |
NCBI chr20:51,156,887...51,168,131
Ensembl chr20:51,157,121...51,168,136
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G |
PLA2G4A |
phospholipase A2 group IVA |
|
ISO |
|
RGD |
PMID:15557087 |
RGD:1642462 |
NCBI chr 7:19,804,412...19,955,215
Ensembl chr 7:19,832,664...19,966,936
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G |
PLA2G7 |
phospholipase A2 group VII |
susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma and atopy, susceptibility to |
OMIM ClinVar |
PMID:10733466 PMID:15115767 |
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NCBI chr12:14,866,229...14,908,230
Ensembl chr12:14,866,229...14,908,114
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G |
PLAU |
plasminogen activator, urokinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:18519237 PMID:21912604 |
RGD:4892037 |
NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851
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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 chr11:22,388,327...22,410,052
Ensembl chr11:22,385,257...22,410,052
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G |
PRF1 |
perforin 1 |
|
ISO |
|
RGD |
PMID:21426642 PMID:22250087 |
RGD:6482815 RGD:6482818 |
NCBI chr 4:21,497,865...21,502,429
Ensembl chr 4:21,498,249...21,500,864
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G |
PRMT1 |
protein arginine methyltransferase 1 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr 1:106,849,864...106,859,896
Ensembl chr 1:106,849,864...106,874,075
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G |
PRMT2 |
protein arginine methyltransferase 2 |
|
ISO |
mRNA:increased expression:lung, spleen |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr31:39,806,086...39,838,959
Ensembl chr31:39,807,593...39,838,972
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G |
PRMT3 |
protein arginine methyltransferase 3 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr21:42,406,327...42,530,157
Ensembl chr21:42,406,314...42,528,116
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G |
PRMT5 |
protein arginine methyltransferase 5 |
|
ISO |
mRNA:increased expression:lung, spleen |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr 8:3,248,349...3,257,567
Ensembl chr 8:3,248,404...3,257,456
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G |
PROC |
protein C, inactivator of coagulation factors Va and VIIIa |
treatment |
ISO |
|
RGD |
PMID:26381519 |
RGD:11099992 |
NCBI chr19:23,173,626...23,183,634
Ensembl chr19:23,173,635...23,183,563
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G |
PTEN |
phosphatase and tensin homolog |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17982072 |
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NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
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G |
PTGDR |
prostaglandin D2 receptor |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr 8:28,480,446...28,491,331
Ensembl chr 8:28,480,478...28,488,855
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G |
PTGDR2 |
prostaglandin D2 receptor 2 |
|
ISO |
Aspirin exacerbated asthma CTD Direct Evidence: therapeutic |
RGD CTD |
PMID:18757520 PMID:19392992 PMID:19796209 PMID:27103662 |
RGD:5135018 RGD:5135019 RGD:5135020 |
NCBI chr18:55,426,632...55,431,916
Ensembl chr18:55,429,308...55,430,510
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G |
PTGER3 |
prostaglandin E receptor 3 |
treatment |
ISO |
|
RGD |
PMID:23221044 |
RGD:10043366 |
NCBI chr 6:74,932,789...74,986,573
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G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
susceptibility severity |
ISO |
DNA:SNP: :8473T>C (human) mRNA:increased expression:lung mRNA, protein:increased expression:lung: DNA:SNP: :rs689465 (human) |
RGD |
PMID:15316498 PMID:17573729 PMID:18097056 PMID:18489027 PMID:19342146 PMID:19862936 PMID:19878559 More...
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RGD:5135514 RGD:5135515 RGD:5135522 RGD:5135526 RGD:5135534 RGD:5143923 RGD:5143931 |
NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
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G |
RAD50 |
RAD50 double strand break repair protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24241537 |
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NCBI chr11:20,836,863...20,928,930
Ensembl chr11:20,836,879...20,928,819
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G |
RHOA |
ras homolog family member A |
|
ISO |
|
RGD |
PMID:18391481 |
RGD:2298885 |
NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215
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G |
SCGB1A1 |
secretoglobin family 1A member 1 |
susceptibility |
ISO |
associated with allergic rhinitis; DNA:SNP:exon:38G>A (human) ClinVar Annotator: match by term: Asthma, susceptibility to |
RGD ClinVar |
PMID:9550363 PMID:9643286 PMID:12100044 PMID:21255142 |
RGD:5144226 |
NCBI chr18:54,187,487...54,191,493
Ensembl chr18:54,187,487...54,191,482
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G |
SCGB3A2 |
secretoglobin family 3A member 2 |
susceptibility severity no_association |
ISO |
ClinVar Annotator: match by term: Asthma, susceptibility to DNA:SNP:promoter:-112G>A (human) |
OMIM ClinVar RGD |
PMID:11813133 PMID:18089940 PMID:18201431 |
RGD:5144230 RGD:5144231 |
NCBI chr 2:42,147,596...42,151,224
Ensembl chr 2:42,147,596...42,151,191
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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 chr 7:28,906,752...28,927,959
Ensembl chr 7:28,906,809...29,094,008
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G |
SERPINA1 |
serpin family A member 1 |
|
ISO |
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 8:63,388,498...63,400,377
Ensembl chr 8:63,376,945...63,398,435
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G |
SERPINE1 |
serpin family E member 1 |
severity no_association susceptibility |
ISO |
protein:increased activity, increased expression:plasma, lung protein:increased expression:plasma DNA:polymorphism:promoter:rs1799768 (human) |
RGD |
PMID:18594148 PMID:19063817 PMID:19604112 PMID:19703828 |
RGD:4144831 RGD:4144832 RGD:4144833 RGD:4144836 |
NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
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G |
SFTPB |
surfactant protein B |
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ISO |
protein:increased expression:lung protein:decreased expression:lung, Clara cell mRNA, protein:decreased expression:lung |
RGD |
PMID:11472974 PMID:15816355 PMID:16629790 PMID:18926058 |
RGD:4143289 RGD:4143398 RGD:4143462 RGD:4143465 |
NCBI chr17:39,419,305...39,428,513
Ensembl chr17:39,386,584...39,426,229
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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:4143462 RGD:4143465 RGD:4144063 |
NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457
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G |
SFTPD |
surfactant protein D |
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ISO |
mRNA, protein:increased expression:lung associated with Bronchitis;protein:increased expression:lung |
RGD |
PMID:11472974 PMID:16629790 PMID:16839409 PMID:18266831 PMID:18802356 |
RGD:4143462 RGD:4143465 RGD:4143508 RGD:4143516 RGD:4143517 |
NCBI chr 4:29,394,755...29,407,499
Ensembl chr 4:29,394,678...29,407,293
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G |
SLC11A1 |
solute carrier family 11 member 1 |
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ISO |
|
RGD |
PMID:12847242 |
RGD:5684966 |
NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282
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G |
SLC18A3 |
solute carrier family 18 member A3 |
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ISO |
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RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr28:1,476,873...1,478,538
Ensembl chr28:1,476,774...1,478,505
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G |
SLC22A1 |
solute carrier family 22 member 1 |
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ISO |
|
RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr 1:49,268,978...49,296,522
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G |
SLC5A7 |
solute carrier family 5 member 7 |
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ISO |
mRNA:decreased expression:lung |
RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr10:35,879,880...35,908,203
Ensembl chr10:35,883,245...35,908,569
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G |
SLC6A4 |
solute carrier family 6 member 4 |
susceptibility |
ISO |
DNA:repeat:intron (human) |
RGD |
PMID:19806585 |
RGD:4889460 |
NCBI chr 9:44,224,026...44,259,655
Ensembl chr 9:44,224,229...44,259,736
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G |
SOD1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22867017 |
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NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
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G |
SOD2 |
superoxide dismutase 2 |
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ISO |
|
RGD |
PMID:15743779 |
RGD:1581231 |
NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
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G |
STAT4 |
signal transducer and activator of transcription 4 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18211752 PMID:28807506 |
RGD:2317290 |
NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
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G |
STAT6 |
signal transducer and activator of transcription 6 |
treatment |
ISO |
|
RGD |
PMID:16083555 PMID:19087723 |
RGD:7244151 RGD:7244153 |
NCBI chr10:1,232,515...1,247,011
Ensembl chr10:1,233,691...1,247,075
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G |
TAC1 |
tachykinin precursor 1 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:11031342 |
RGD:5147836 |
NCBI chr14:22,631,106...22,640,283
Ensembl chr14:22,632,642...22,640,258
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G |
TACR1 |
tachykinin receptor 1 |
|
ISO |
mRNA,protein:increased expression:lung mRNA:increased expression:lung |
RGD |
PMID:8240667 PMID:16409782 PMID:17392578 |
RGD:2304339 RGD:5147475 RGD:5147645 |
NCBI chr17:48,038,010...48,178,971
Ensembl chr17:48,038,010...48,178,971
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G |
TACR2 |
tachykinin receptor 2 |
|
ISO |
DNA:SNP:cds:p.G231E (human) |
RGD |
PMID:19880429 PMID:20175803 |
RGD:5147640 RGD:5147641 |
NCBI chr 4:20,518,797...20,531,118
Ensembl chr 4:20,517,563...20,531,867
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G |
TAP1 |
transporter 1, ATP binding cassette subfamily B member |
susceptibility |
ISO |
DNA:polymorphism: : |
RGD |
PMID:12640628 |
RGD:5147845 |
NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303
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G |
TBX21 |
T-box transcription factor 21 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15806396 |
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NCBI chr 9:24,077,752...24,086,560
Ensembl chr 9:24,077,761...24,086,261
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G |
TBXA2R |
thromboxane A2 receptor |
severity susceptibility |
ISO |
DNA:polymorphism:cds:924T>C(human) |
RGD |
PMID:12000493 PMID:15805995 |
RGD:11059534 RGD:11059535 |
NCBI chr20:55,819,866...55,829,395
Ensembl chr20:55,824,410...55,828,980
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G |
THBD |
thrombomodulin |
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ISO |
|
RGD |
PMID:20709825 |
RGD:5684984 |
NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649
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G |
TIMP3 |
TIMP metallopeptidase inhibitor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16926187 |
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NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288
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G |
TLR1 |
toll like receptor 1 |
susceptibility |
ISO |
DNA:SNP (human) |
RGD |
PMID:18547625 |
RGD:4889528 |
NCBI chr 3:73,504,359...73,544,822
Ensembl chr 3:73,539,715...73,544,624
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G |
TLR10 |
toll like receptor 10 |
susceptibility |
ISO |
DNA:SNP (human) |
RGD |
PMID:18547625 |
RGD:4889528 |
NCBI chr 3:73,561,596...73,589,286
Ensembl chr 3:73,568,321...73,570,744
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G |
TLR2 |
toll like receptor 2 |
susceptibility severity |
ISO |
DNA:SNP: :rs4696480 (human) DNA:SNP: :rs7656411 (human) DNA:SNP: :rs3804100 (human) DNA:polymorphism:cds:p.R753Q(human) DNA:SNP: :596T>C (human) |
RGD |
PMID:18202345 PMID:18787777 PMID:19096003 PMID:19148143 PMID:20685742 PMID:20815312 PMID:22402138 More...
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RGD:2312679 RGD:4144171 RGD:4144228 RGD:4145334 RGD:4145343 RGD:4145352 RGD:7800732 |
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
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G |
TLR3 |
toll like receptor 3 |
no_association |
ISO |
Asthma, Virus-Induced; mRNA:increased expression:sputum (human) DNA:snp:cds:p.L412F (human) |
RGD |
PMID:14987294 PMID:17434873 PMID:17610940 PMID:21129050 PMID:21364926 |
RGD:5128500 RGD:5129226 RGD:5129475 RGD:5129478 RGD:5129493 |
NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247
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G |
TLR4 |
toll like receptor 4 |
susceptibility severity no_association |
ISO |
DNA:Polymorphism:cds:p.D299G (human) DNA:polymorphisms:cds:c.896A>G, 1196C>T (human) DNA:SNPs: :rs10983755, rs1927914 (human) protein:decreased expression:leukocytes, mononuclear DNA:SNPs:: |
RGD |
PMID:15356557 PMID:16266379 PMID:19067129 PMID:19159017 PMID:19330007 PMID:20628601 PMID:20685742 More...
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RGD:4144141 RGD:4144171 RGD:4144176 RGD:4144188 RGD:4144190 RGD:4144198 RGD:4144817 |
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
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G |
TLR6 |
toll like receptor 6 |
susceptibility |
ISO |
DNA:SNP (human) DNA:SNP: :p.S249P (human) |
RGD |
PMID:15266299 PMID:18547625 |
RGD:4889528 RGD:4889538 |
NCBI chr 3:73,504,357...73,523,964
Ensembl chr 3:73,520,706...73,523,099
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G |
TLR9 |
toll like receptor 9 |
susceptibility severity no_association |
ISO |
DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) protein:increased expression:peripheral blood mononuclear cell (human) DNA:SNP:promoter:g.-1237T>C rs5743836 (human) |
RGD |
PMID:18312481 PMID:20016192 PMID:20072849 PMID:21324137 |
RGD:4144208 RGD:4889523 RGD:5129104 RGD:5130712 |
NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114 Ensembl chr20:37,542,340...37,547,114
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G |
TNC |
tenascin C |
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ISO |
protein:increased expression:bronchus basement membrane DNA:SNP:exon:p.L1677I (human) DNA:SNPs: :multiple (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:9310019 PMID:16115819 PMID:17125141 PMID:18305139 |
RGD:4889565 RGD:4889569 RGD:4889572 RGD:4889589 |
NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281
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G |
TNF |
tumor necrosis factor |
susceptibility no_association |
ISO |
ClinVar Annotator: match by term: Asthma, susceptibility to DNA:polymorphism:promoter: |
OMIM ClinVar RGD |
PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 PMID:11826025 PMID:11896460 PMID:12485196 PMID:12530118 PMID:12746914 PMID:12759288 PMID:14681301 PMID:14718719 PMID:16418737 PMID:16720636 PMID:16865291 PMID:16909270 PMID:18050183 PMID:18713756 PMID:19365401 PMID:22760475 PMID:22992668 More...
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RGD:4143254 |
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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G |
TNFRSF1A |
TNF receptor superfamily member 1A |
|
ISO |
protein:increased expression:lung (mouse) |
RGD |
PMID:20484920 |
RGD:5131201 |
NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
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G |
TNIP1 |
TNFAIP3 interacting protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24453940 |
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NCBI chr 4:58,150,734...58,200,158
Ensembl chr 4:58,149,882...58,199,644
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G |
TRPA1 |
transient receptor potential cation channel subfamily A member 1 |
severity |
ISO |
CTD Direct Evidence: marker/mechanism ovalbumin sensitization |
CTD RGD |
PMID:19458046 PMID:31969645 |
RGD:127285811 |
NCBI chr29:20,951,736...21,000,956
Ensembl chr29:20,951,716...21,001,208
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G |
TSLP |
thymic stromal lymphopoietin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21804549 |
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NCBI chr 3:1,502,469...1,507,696
Ensembl chr 3:1,503,188...1,507,696
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G |
UCN |
urocortin |
|
ISO |
associated with Hypersensitivity;mRNA, protein:increased expression:lung |
RGD |
PMID:16427607 |
RGD:1642781 |
NCBI chr17:21,278,512...21,280,404
Ensembl chr17:21,278,932...21,279,312
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G |
UTS2 |
urotensin 2 |
|
ISO |
|
RGD |
PMID:17045018 |
RGD:2306832 |
NCBI chr 5:61,503,268...61,508,146
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G |
VDR |
vitamin D receptor |
no_association |
ISO |
DNA:SNP (human) DNA:SNPs (human) DNA:SNP: :rs7975232 (human) DNA:SNPs: :multiple (human) |
RGD |
PMID:15282200 PMID:19622139 PMID:20124605 PMID:21103062 |
RGD:4889854 RGD:4889866 RGD:4889867 RGD:4889868 |
NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
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G |
VEGFA |
vascular endothelial growth factor A |
|
ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:sputum |
CTD RGD |
PMID:11907124 PMID:15201500 PMID:19178538 PMID:19263519 |
RGD:6892723 |
NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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G |
VIP |
vasoactive intestinal peptide |
|
ISO |
|
RGD |
PMID:16782752 PMID:21419198 |
RGD:5685381 RGD:5685620 |
NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700
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G |
WDR36 |
WD repeat domain 36 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19198610 |
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NCBI chr 3:1,451,543...1,494,474
Ensembl chr 3:1,451,555...1,494,438
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G |
DLA-DRA |
MHC class II DR alpha chain |
susceptibility |
ISO |
DNA:SNPs,haplotype:introns: |
RGD |
PMID:22391069 |
RGD:13506908 |
NCBI chr12:2,133,026...2,137,825
Ensembl chr12:2,132,499...2,168,975
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G |
TBX21 |
T-box transcription factor 21 |
|
ISO |
ClinVar Annotator: match by term: Asthma and nasal polyps |
ClinVar |
PMID:15806396 |
|
NCBI chr 9:24,077,752...24,086,560
Ensembl chr 9:24,077,761...24,086,261
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G |
ALOX15 |
arachidonate 15-lipoxygenase |
|
ISO |
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance |
ClinVar |
PMID:17959182 PMID:21558275 PMID:30643255 |
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NCBI chr 5:31,883,544...31,891,357
Ensembl chr 5:31,882,501...32,038,119
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G |
PTGER2 |
prostaglandin E receptor 2 |
|
ISO |
|
OMIM |
|
|
NCBI chr 8:28,523,318...28,536,936
Ensembl chr 8:28,522,681...28,536,922
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G |
TBX21 |
T-box transcription factor 21 |
|
ISO |
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 9:24,077,752...24,086,560
Ensembl chr 9:24,077,761...24,086,261
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G |
ACTL9 |
actin like 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr20:53,176,345...53,179,880
Ensembl chr20:53,178,504...53,179,754
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G |
AHR |
aryl hydrocarbon receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27869817 |
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NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444
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APOE |
apolipoprotein E |
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ISO |
protein:decreased expression:plasma |
RGD |
PMID:19116453 |
RGD:11040546 |
NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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G |
ARTN |
artemin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27869817 |
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G |
B9D2 |
B9 domain containing 2 |
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ISO |
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RGD |
PMID:11496247 |
RGD:7394812 |
NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
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G |
BDNF |
brain derived neurotrophic factor |
no_association susceptibility |
ISO |
protein:increased expression:serum: DNA:polymorphism:cds:p.V66M(human) mRNA:decreased expression:mast cell DNA:polymorphism::C270T(human) |
RGD |
PMID:17073871 PMID:17845420 PMID:19038326 PMID:19522715 |
RGD:8657028 RGD:8657065 RGD:8657067 RGD:8657069 |
NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
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G |
C3 |
complement C3 |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:3923750 |
RGD:7401273 |
NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
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G |
CARD11 |
caspase recruitment domain family member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 PMID:28628108 |
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NCBI chr 6:14,273,115...14,331,029
Ensembl chr 6:14,210,114...14,332,094
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G |
CCDC80 |
coiled-coil domain containing 80 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr33:17,105,086...17,141,380
Ensembl chr33:17,105,086...17,139,896
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G |
CCL17 |
C-C motif chemokine ligand 17 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr 2:59,001,463...59,014,347
Ensembl chr 2:59,001,464...59,005,230
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G |
CCL20 |
C-C motif chemokine ligand 20 |
severity treatment |
ISO |
protein:increased expression:plasma |
RGD |
PMID:11133838 PMID:19162238 |
RGD:7483580 RGD:7483583 |
NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709
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G |
CCL22 |
C-C motif chemokine ligand 22 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 PMID:22125604 |
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NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625
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G |
CCL24 |
C-C motif chemokine ligand 24 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr 6:7,166,165...7,179,606
Ensembl chr 6:7,166,479...7,180,051
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G |
CCL26 |
C-C motif chemokine ligand 26 |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:14616792 |
RGD:11087554 |
NCBI chr 6:7,151,352...7,154,509
Ensembl chr 6:7,151,212...7,154,726
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G |
CCL27 |
C-C motif chemokine ligand 27 |
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ISO |
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RGD |
PMID:12642842 |
RGD:1626250 |
NCBI chr11:51,334,870...51,338,752
Ensembl chr11:51,334,778...51,335,591
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G |
CCL28 |
C-C motif chemokine ligand 28 |
severity |
ISO |
associated with Asthma; protein: increased secretion:serum (human) |
RGD |
PMID:20161852 |
RGD:4892193 |
NCBI chr 4:66,567,139...66,597,310
Ensembl chr 4:66,566,989...66,597,459
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G |
CCL5 |
C-C motif chemokine ligand 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
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G |
CCR2 |
C-C motif chemokine receptor 2 |
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ISO |
protein:increased expression:skin,monocyte: |
RGD |
PMID:15370700 |
RGD:8661734 |
NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
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G |
CCR3 |
C-C motif chemokine receptor 3 |
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ISO |
protein:increased expression:skin CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:16449815 PMID:18249437 |
RGD:6893391 |
NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217
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G |
CCR5 |
C-C motif chemokine receptor 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:16449815 PMID:18249437 |
RGD:6893391 |
NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
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G |
CD40 |
CD40 molecule |
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ISO |
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RGD |
PMID:18693155 |
RGD:5132274 |
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
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G |
CDSN |
corneodesmosin |
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ISO |
protein:decreased expression:skin of body (human) |
RGD |
PMID:21211653 |
RGD:42721970 |
NCBI chr12:819,488...824,015
Ensembl chr12:820,467...823,986
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G |
CLDN1 |
claudin 1 |
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ISO |
DNA:SNPs:intron,promoter :rs17501010,rs9290927,rs893051,rs9290929,rs16865373(human) |
RGD |
PMID:21163515 |
RGD:11344875 |
NCBI chr34:22,303,058...22,319,101
Ensembl chr34:22,303,850...22,319,033
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G |
CLDN23 |
claudin 23 |
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ISO |
mRNA:decreased expression:epidermis: |
RGD |
PMID:21163515 |
RGD:11344875 |
NCBI chr16:35,786,709...35,788,430
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G |
CMA1 |
chymase 1 |
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ISO |
DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) |
RGD |
PMID:16134991 |
RGD:1625394 |
NCBI chr 8:4,438,244...4,441,189
Ensembl chr 8:4,438,244...4,441,189
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G |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
susceptibility |
ISO |
mRNA:increased expression:blood: DNA:SNP,haplotype:exon,3'UTR:rs3087243,rs231775 (human) |
RGD |
PMID:16445777 PMID:22357516 |
RGD:7411698 RGD:7411700 |
NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
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G |
CX3CL1 |
C-X3-C motif chemokine ligand 1 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:15131578 |
RGD:9491761 |
NCBI chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095
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G |
CX3CR1 |
C-X3-C motif chemokine receptor 1 |
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ISO |
protein:decreased expression:blood, leukocyte |
RGD |
PMID:15131578 PMID:24821910 |
RGD:9491393 RGD:9491761 |
NCBI chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808
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G |
CXCL10 |
C-X-C motif chemokine ligand 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979
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G |
CXCR3 |
C-X-C motif chemokine receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr X:55,882,433...55,884,582
Ensembl chr X:55,882,433...55,884,582
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G |
CYP1A1 |
cytochrome P450 family 1 subfamily A member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27869817 |
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NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
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G |
CYP4F22 |
cytochrome P450 family 4 subfamily F member 22 |
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ISO |
ClinVar Annotator: match by term: Atopic eczema |
ClinVar |
PMID:25741868 |
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NCBI chr20:46,674,580...46,743,183
Ensembl chr20:46,458,620...46,705,789
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G |
DOCK8 |
dedicator of cytokinesis 8 |
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ISO |
DNA:mutations:cds: |
RGD |
PMID:22476911 |
RGD:40903056 |
NCBI chr 1:89,152,456...89,379,203
Ensembl chr 1:89,150,856...89,378,013
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G |
EMSY |
EMSY transcriptional repressor, BRCA2 interacting |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr21:22,149,131...22,289,857
Ensembl chr21:22,149,127...22,289,875
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G |
F2 |
coagulation factor II, thrombin |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:21488867 |
RGD:5147756 |
NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
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G |
FLG |
filaggrin |
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ISO |
ClinVar Annotator: match by term: Atopic eczema |
ClinVar |
PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17417636 PMID:17657246 PMID:18325573 PMID:19501237 PMID:19538357 PMID:19733298 PMID:19785597 PMID:19839980 PMID:19874431 PMID:20426775 PMID:20573035 PMID:21365004 PMID:21377035 PMID:21514438 PMID:21564328 PMID:21777221 PMID:22403702 PMID:22995991 PMID:23039796 PMID:23166590 PMID:23343419 PMID:23352160 PMID:23947670 PMID:23993222 PMID:24033266 PMID:24251354 PMID:24920311 PMID:25333069 PMID:25741868 PMID:26451970 PMID:27279822 PMID:27363669 PMID:27462351 PMID:28164424 PMID:28213896 PMID:28730607 PMID:29054605 PMID:29068602 PMID:29428354 PMID:29431110 PMID:29444371 PMID:29791750 PMID:30665703 PMID:31637781 More...
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NCBI chr17:61,217,915...61,233,068
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G |
GLB1 |
galactosidase beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191
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G |
GSTP1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:polymorphism:exon:p.I105V (rs1695) (human) |
RGD |
PMID:19842992 PMID:20674822 |
RGD:5490540 RGD:5490981 |
NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
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G |
HAVCR1 |
hepatitis A virus cellular receptor 1 |
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ISO |
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RGD |
PMID:16159638 |
RGD:5128852 |
NCBI chr 4:53,012,223...53,066,611
Ensembl chr 4:53,046,970...53,128,952 Ensembl chr 4:53,046,970...53,128,952
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G |
HNMT |
histamine N-methyltransferase |
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ISO |
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RGD |
PMID:19025430 |
RGD:5128889 |
NCBI chr19:40,656,266...40,702,498
Ensembl chr19:40,655,161...40,702,218
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G |
IFNG |
interferon gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:22101570 |
RGD:8157618 |
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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G |
IFNL3 |
interferon lambda 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22295096 |
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G |
IL10 |
interleukin 10 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:23843958 |
RGD:7364805 |
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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G |
IL13 |
interleukin 13 |
severity treatment |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP:exon:4257G>A (human) DNA:SNPs: :rs3091307, rs20541 (human) DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human) |
RGD CTD |
PMID:10887320 PMID:16672002 PMID:17313488 PMID:18249437 PMID:19006098 PMID:21913997 PMID:22355542 PMID:23317483 More...
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RGD:5684364 RGD:8549509 RGD:8549529 RGD:8549531 RGD:8549539 RGD:8549583 |
NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
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G |
IL13RA1 |
interleukin 13 receptor subunit alpha 1 |
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ISO |
mRNA:increased expression:skin |
RGD |
PMID:14527737 |
RGD:8549525 |
NCBI chr X:90,925,497...90,981,855
Ensembl chr X:90,924,801...90,979,963
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G |
IL13RA2 |
interleukin 13 receptor subunit alpha 2 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:20971924 PMID:21462799 |
RGD:8549521 RGD:8549556 |
NCBI chr X:87,747,373...87,776,797
Ensembl chr X:87,747,373...87,776,798
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G |
IL17A |
interleukin 17A |
treatment severity |
ISO |
protein:increased expression:epidermis (mouse) protein:increased expression:dermis, lymphocyte (human) |
RGD |
PMID:18432274 PMID:22848348 PMID:24337738 |
RGD:8698670 RGD:9068417 RGD:9068436 |
NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
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G |
IL18 |
interleukin 18 |
no_association severity |
ISO |
protein:increased expression:serum DNA:SNP:promoter:-137G>C (rs187238) (human) DNA:SNP:promoter:-140C>G (rs360721) (human) DNA:SNPs, haplotype: :rs795467, rs4937113, rs5744247 (human) |
RGD |
PMID:11490156 PMID:15317323 PMID:17517100 PMID:22840759 |
RGD:8655872 RGD:8655876 RGD:8655908 RGD:8655914 |
NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
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G |
IL1B |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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G |
IL2 |
interleukin 2 |
susceptibility |
ISO |
DNA:SNP:promoter:rs2069762(human) associated with food hypersensitivity; protein:increased expression:CD8+ T cell: |
RGD |
PMID:1673687 PMID:7547077 PMID:16333313 PMID:16672002 PMID:21982597 |
RGD:8549583 RGD:8662961 RGD:8663444 RGD:8663473 RGD:8693325 |
NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
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G |
IL21R |
interleukin 21 receptor |
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ISO |
protein:increased expression:skin |
RGD |
PMID:19075398 |
RGD:6892938 |
NCBI chr 6:19,181,846...19,217,915
Ensembl chr 6:19,182,071...19,217,931
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G |
IL25 |
interleukin 25 |
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ISO |
protein:increased expression:arm skin |
RGD |
PMID:23657503 |
RGD:39128244 |
NCBI chr 8:3,621,268...3,624,689
Ensembl chr 8:3,618,161...3,624,043
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G |
IL31 |
interleukin 31 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr26:7,173,151...7,175,195
Ensembl chr26:7,172,451...7,175,195
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G |
IL32 |
interleukin 32 |
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ISO |
mRNA:splice variant:zone of skin (human) |
RGD |
PMID:28301691 |
RGD:150340720 |
NCBI chr 6:38,119,287...38,122,979
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G |
IL33 |
interleukin 33 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
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G |
IL4 |
interleukin 4 |
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ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism DNA:SNP:promoter:-590C>T (human) |
RGD CTD |
PMID:8363440 PMID:9643293 PMID:11886533 PMID:12230500 PMID:18249437 |
RGD:7829786 RGD:7829795 |
NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
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G |
IL4R |
interleukin 4 receptor |
susceptibility |
ISO |
DNA:mutation:cds:p.Q576R(human) |
RGD |
PMID:9392697 |
RGD:11530001 |
NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291
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G |
IL5 |
interleukin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism mRNA: increased expression: skin |
CTD RGD |
PMID:11886533 PMID:18249437 PMID:22299064 |
RGD:5687175 |
NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
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G |
IL6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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G |
KCNJ11 |
potassium inwardly rectifying channel subfamily J member 11 |
|
ISO |
ClinVar Annotator: match by term: Atopic eczema |
ClinVar |
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NCBI chr21:39,953,461...39,957,615
Ensembl chr21:39,955,551...39,956,723
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G |
LOC403581 |
peptidylprolyl isomerase A (cyclophilin A) pseudogene |
|
ISO |
mRNA:increased expression:zone of skin (human) |
RGD |
PMID:32496587 |
RGD:150383342 |
NCBI chr 7:80,937,433...80,938,175
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G |
MAPK8 |
mitogen-activated protein kinase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24046278 |
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NCBI chr28:323,361...410,367
Ensembl chr28:368,513...406,401
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G |
MBL1 |
mannose binding lectin 1 |
susceptibility |
ISO |
DNA:polymorphisms:promoter, exon: |
RGD |
PMID:20642202 |
RGD:8693720 |
NCBI chr 4:29,419,886...29,424,377
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G |
MC1R |
melanocortin 1 receptor |
|
ISO |
protein: increased expression: skin |
RGD |
PMID:19889022 |
RGD:5687321 |
NCBI chr 5:63,694,296...63,695,249
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G |
MMP9 |
matrix metallopeptidase 9 |
treatment |
ISO |
|
RGD |
PMID:27776525 |
RGD:13204759 |
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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G |
MS4A2 |
membrane spanning 4-domains A2 |
susceptibility |
ISO |
Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G |
RGD |
PMID:8817330 |
RGD:1599903 |
NCBI chr21:50,439,133...50,456,785
Ensembl chr21:50,450,024...50,456,785
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G |
NGF |
nerve growth factor |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:17073871 |
RGD:8657069 |
NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
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G |
NGFR |
nerve growth factor receptor |
|
ISO |
protein:increased expression:nerve fibers of the papillary dermis |
RGD |
PMID:16586073 |
RGD:5508452 |
NCBI chr 9:25,598,468...25,621,021
Ensembl chr 9:25,601,074...25,623,274
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G |
NTRK1 |
neurotrophic receptor tyrosine kinase 1 |
|
ISO |
protein:increased expression:eosinophil |
RGD |
PMID:17223862 PMID:18647313 |
RGD:5144116 RGD:5684771 |
NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288
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G |
OVOL1 |
ovo like transcriptional repressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr18:51,454,170...51,465,189
Ensembl chr18:51,455,107...51,464,847
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G |
PPARA |
peroxisome proliferator activated receptor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism potential therapeutic target with or without glucocorticoid therapy |
CTD RGD |
PMID:18249437 PMID:21633371 |
RGD:5509940 |
NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146
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G |
RELB |
RELB proto-oncogene, NF-kB subunit |
|
ISO |
|
RGD |
PMID:10940923 |
RGD:7777149 |
NCBI chr 1:110,436,677...110,466,709
Ensembl chr 1:110,436,662...110,466,809
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G |
S100A8 |
S100 calcium binding protein A8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18336422 |
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NCBI chr 7:43,540,667...43,541,604
Ensembl chr 7:43,501,989...43,541,604
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G |
SELE |
selectin E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12410700 |
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NCBI chr 7:28,888,503...28,898,787
Ensembl chr 7:28,888,197...28,898,786
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G |
SELP |
selectin P |
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ISO |
atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:point_mutation:CDS:amino acid Val640Leu |
RGD |
PMID:12929084 |
RGD:1599904 |
NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313
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G |
SLC11A1 |
solute carrier family 11 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321 |
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NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282
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G |
STAT6 |
signal transducer and activator of transcription 6 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15306842 |
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NCBI chr10:1,232,515...1,247,011
Ensembl chr10:1,233,691...1,247,075
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G |
TLR2 |
toll like receptor 2 |
severity |
ISO |
DNA:polymorphism:cds:p.R753Q(human) DNA:polymorphism: :-16934A>T(human) |
RGD |
PMID:17531301 PMID:19627277 PMID:22032785 |
RGD:8552997 RGD:8552999 RGD:8553048 |
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
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G |
TLR4 |
toll like receptor 4 |
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ISO |
mRNA:increased expression:blood cell: DNA:polymorphism: :896G>A(human) |
RGD |
PMID:19764566 PMID:23821954 |
RGD:7794689 RGD:7794745 |
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
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G |
TNF |
tumor necrosis factor |
susceptibility |
ISO |
DNA:haplotype:promoter:−308G>A,-238G>A(human) |
RGD |
PMID:22533231 |
RGD:7401246 |
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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G |
TNFAIP6 |
TNF alpha induced protein 6 |
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ISO |
mRNA:altered expression:fibroblast |
RGD |
PMID:16650051 |
RGD:7777183 |
NCBI chr19:52,607,598...52,623,799
Ensembl chr19:52,607,713...52,623,811
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G |
TSLP |
thymic stromal lymphopoietin |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16880407 PMID:22355542 PMID:23688403 PMID:27869817 PMID:29310423 |
RGD:38549374 |
NCBI chr 3:1,502,469...1,507,696
Ensembl chr 3:1,503,188...1,507,696
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G |
VDR |
vitamin D receptor |
severity no_association |
ISO |
DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human) DNA:SNP: :rs2228570 (human) |
RGD |
PMID:23034014 |
RGD:8157625 |
NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
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G |
VNN1 |
vanin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19322213 |
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NCBI chr 1:25,678,039...25,704,579
Ensembl chr 1:25,678,042...25,696,807
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G |
FLG |
filaggrin |
susceptibility |
ISO |
ClinVar Annotator: match by term: Atopic dermatitis 2 | ClinVar Annotator: match by term: Dermatitis, atopic, 2, susceptibility to |
OMIM ClinVar |
PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17291859 PMID:17417636 PMID:17657246 PMID:18325573 PMID:18396323 PMID:19183181 PMID:19501237 PMID:19538357 PMID:19733298 PMID:19785597 PMID:19839980 PMID:19874431 PMID:20426775 PMID:20573035 PMID:20674819 PMID:21039602 PMID:21365004 PMID:21377035 PMID:21514438 PMID:21564328 PMID:21777221 PMID:22403702 PMID:22407025 PMID:22951058 PMID:22995991 PMID:23039796 PMID:23166590 PMID:23343419 PMID:23352160 PMID:23947670 PMID:23993222 PMID:24033266 PMID:24251354 PMID:24565632 PMID:24920311 PMID:25314673 PMID:25333069 PMID:25741868 PMID:26451970 PMID:27279822 PMID:27363669 PMID:27462351 PMID:28143684 PMID:28164424 PMID:28213896 PMID:28730607 PMID:29054605 PMID:29068602 PMID:29428354 PMID:29431110 PMID:29444371 PMID:29791750 PMID:30665703 PMID:31365035 PMID:31637781 More...
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NCBI chr17:61,217,915...61,233,068
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G |
SOCS3 |
suppressor of cytokine signaling 3 |
susceptibility |
ISO |
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OMIM |
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NCBI chr 9:2,859,267...2,859,944
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G |
ACE |
angiotensin I converting enzyme |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10194187 |
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NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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G |
B9D2 |
B9 domain containing 2 |
severity |
ISO |
DNA:polymorphisms: :-509C>T (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:15750822 PMID:17785866 |
RGD:4145294 |
NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
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G |
BTNL2 |
butyrophilin like 2 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP: :rs3117099(human) |
CTD RGD |
PMID:17927685 |
RGD:9685029 |
NCBI chr12:2,085,589...2,106,787
Ensembl chr12:2,086,324...2,107,124
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G |
CCR5 |
C-C motif chemokine receptor 5 |
disease_progression |
ISO |
DNA:polymorphisms:5' utr:multiple (human) |
RGD |
PMID:20075058 |
RGD:4892065 |
NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
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G |
CD28 |
CD28 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12952926 |
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NCBI chr37:12,503,849...12,536,362
Ensembl chr37:12,503,811...12,532,854
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G |
GCLM |
glutamate-cysteine ligase modifier subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16766924 |
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NCBI chr 6:55,204,602...55,244,217
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G |
HLA-DRB1 |
MHC class II DLA DRB1 beta chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16272364 PMID:17927685 |
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NCBI chr12:2,151,409...2,164,564
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G |
HMOX1 |
heme oxygenase 1 |
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ISO |
protein:increased activity:sputum |
RGD |
PMID:19453654 |
RGD:4145349 |
NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
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G |
IL2RA |
interleukin 2 receptor subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8977230 |
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NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643
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G |
IL6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8428540 |
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NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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G |
TNF |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8428540 PMID:12449171 PMID:15127972 PMID:16980557 |
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NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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G |
MUC1 |
mucin 1, cell surface associated |
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ISO |
protein:increased expression:serum |
RGD |
PMID:15881280 |
RGD:5131172 |
NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690
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G |
NFKBIA |
NFKB inhibitor alpha |
exacerbates |
ISO |
associated with respiratory syncytial virus infectious disease;DNA:SNPs:protomer: (rs2233409) (human) |
RGD |
PMID:23487427 |
RGD:40902982 |
NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433
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G |
ADGRE2 |
adhesion G protein-coupled receptor E2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr20:47,929,357...47,968,525
Ensembl chr20:47,873,897...47,968,525
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G |
GRIN2B |
glutamate ionotropic receptor NMDA type subunit 2B |
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ISO |
protein:increased expression:brain, cingulate cortex (rat) |
RGD |
PMID:19208366 |
RGD:2326032 |
NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680
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G |
IL13 |
interleukin 13 |
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ISO |
associated with Dermatitis, Atopic; DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (c.389G>A) (rs1800925, rs20541) (human) |
RGD |
PMID:19220774 |
RGD:8549541 |
NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
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G |
CCL26 |
C-C motif chemokine ligand 26 |
severity |
ISO |
protein:increased expression:sputum (human) |
RGD |
PMID:25936567 |
RGD:11531115 |
NCBI chr 6:7,151,352...7,154,509
Ensembl chr 6:7,151,212...7,154,726
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G |
EPX |
eosinophil peroxidase |
treatment |
ISO |
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RGD |
PMID:28751233 |
RGD:13506890 |
NCBI chr 9:32,855,568...32,865,445
Ensembl chr 9:32,855,507...32,865,022
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G |
ANKRD27 |
ankyrin repeat domain 27 |
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ISO |
DNA:SNPs:intron: (rs3815700, rs10410895) (human) |
RGD |
PMID:25407941 |
RGD:11100048 |
NCBI chr 1:119,325,132...119,377,266
Ensembl chr 1:119,325,873...119,376,948
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G |
B9D2 |
B9 domain containing 2 |
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ISO |
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RGD |
PMID:24486052 |
RGD:11073602 |
NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
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G |
CAPN14 |
calpain 14 |
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ISO |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:esophagus DNA:snps:multiple (human) |
CTD RGD |
PMID:25017104 PMID:25407941 |
RGD:11100048 RGD:11100049 |
NCBI chr17:24,774,603...24,812,719
Ensembl chr17:24,775,059...24,811,742
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G |
CCL26 |
C-C motif chemokine ligand 26 |
treatment |
ISO |
protein:increased expression:esophagus (human) |
RGD |
PMID:18844613 PMID:24704289 |
RGD:11081156 RGD:11081157 |
NCBI chr 6:7,151,352...7,154,509
Ensembl chr 6:7,151,212...7,154,726
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G |
CCR3 |
C-C motif chemokine receptor 3 |
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ISO |
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RGD |
PMID:1316818 |
RGD:6893390 |
NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217
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G |
CD40LG |
CD40 ligand |
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ISO |
protein:decreased expression:plasma |
RGD |
PMID:21211656 |
RGD:5490306 |
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
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G |
IL5 |
interleukin 5 |
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ISO |
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RGD |
PMID:23161496 |
RGD:11354947 |
NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
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G |
PECAM1 |
platelet and endothelial cell adhesion molecule 1 |
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ISO |
protein:increased expression:esophagus (human) |
RGD |
PMID:22331014 |
RGD:6771318 |
NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778
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G |
TSLP |
thymic stromal lymphopoietin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20208534 |
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NCBI chr 3:1,502,469...1,507,696
Ensembl chr 3:1,503,188...1,507,696
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G |
ALOX5 |
arachidonate 5-lipoxygenase |
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ISO |
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RGD |
PMID:10984370 |
RGD:4890423 |
NCBI chr28:2,170,920...2,218,765
Ensembl chr28:2,170,920...2,219,609
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G |
CCL5 |
C-C motif chemokine ligand 5 |
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ISO |
protein:increased secretion:lung, secretion (human) |
RGD |
PMID:19996575 |
RGD:4892021 |
NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
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G |
TACR1 |
tachykinin receptor 1 |
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ISO |
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RGD |
PMID:8630576 |
RGD:5147837 |
NCBI chr17:48,038,010...48,178,971
Ensembl chr17:48,038,010...48,178,971
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G |
ACSL3 |
acyl-CoA synthetase long chain family member 3 |
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ISO |
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RGD |
PMID:23526225 |
RGD:13831300 |
NCBI chr37:28,882,264...28,929,451
Ensembl chr37:28,864,147...28,938,866
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G |
BCL2 |
BCL2 apoptosis regulator |
treatment |
ISO |
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RGD |
PMID:29713367 |
RGD:13792581 |
NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
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G |
CD86 |
CD86 molecule |
treatment |
ISO |
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RGD |
PMID:25344652 |
RGD:11354965 |
NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
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G |
FAS |
Fas cell surface death receptor |
treatment |
ISO |
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RGD |
PMID:29713367 |
RGD:13792581 |
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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G |
FASLG |
Fas ligand |
treatment |
ISO |
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RGD |
PMID:29713367 |
RGD:13792581 |
NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
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G |
IL23A |
interleukin 23 subunit alpha |
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ISO |
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RGD |
PMID:19935773 PMID:26344076 |
RGD:11251537 RGD:5037240 |
NCBI chr10:635,384...640,715
Ensembl chr10:638,719...640,359
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G |
ACE |
angiotensin I converting enzyme |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:19218674 |
RGD:4140920 |
NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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G |
CCL5 |
C-C motif chemokine ligand 5 |
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ISO |
protein:increased secretion:lung, secretion (mouse) mRNA:increased expression:lung:bronchoalveolar lavage cell (human) |
RGD |
PMID:10384061 PMID:16387809 |
RGD:4891434 RGD:4891436 |
NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
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G |
CCL7 |
C-C motif chemokine ligand 7 |
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ISO |
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RGD |
PMID:20027288 |
RGD:5130978 |
NCBI chr 9:38,994,638...38,996,103
Ensembl chr 9:38,993,911...39,010,483
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G |
CCR3 |
C-C motif chemokine receptor 3 |
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ISO |
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RGD |
PMID:19842835 |
RGD:4145620 |
NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217
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G |
CD86 |
CD86 molecule |
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ISO |
associated with Paramyxoviridae Infections; protein:increased expression:lung (mouse) |
RGD |
PMID:19282343 |
RGD:4892294 |
NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
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G |
CXCL10 |
C-X-C motif chemokine ligand 10 |
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ISO |
mRNA:increased expression:alveolar macrophage |
RGD |
PMID:14991597 PMID:15725351 |
RGD:5135448 RGD:5135490 |
NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979
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G |
CXCL11 |
C-X-C motif chemokine ligand 11 |
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ISO |
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RGD |
PMID:14991597 |
RGD:5135448 |
NCBI chr32:631,084...636,997
Ensembl chr32:631,478...632,868 Ensembl chr32:631,478...632,868
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G |
CXCR3 |
C-X-C motif chemokine receptor 3 |
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ISO |
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RGD |
PMID:14991597 PMID:19842835 |
RGD:4145620 RGD:5135448 |
NCBI chr X:55,882,433...55,884,582
Ensembl chr X:55,882,433...55,884,582
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G |
CYP2E1 |
cytochrome P450 family 2 subfamily E member 1 |
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ISO |
mRNA:decreased expression:leukocyte |
RGD |
PMID:20514434 |
RGD:4892076 |
NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754
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G |
IL13 |
interleukin 13 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:9916735 PMID:20861649 |
RGD:4145650 RGD:5128548 |
NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
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G |
IL17A |
interleukin 17A |
|
ISO |
associated with Silicosis |
RGD |
PMID:19151189 PMID:20421647 |
RGD:4888525 RGD:4889106 |
NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
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G |
IL17RA |
interleukin 17 receptor A |
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ISO |
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RGD |
PMID:19414809 |
RGD:5144217 |
NCBI chr27:44,798,960...44,812,287
Ensembl chr27:44,791,066...44,811,064
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G |
IL1A |
interleukin 1 alpha |
|
ISO |
protein:increased expression:Bronchoalveolar Lavage Fluid |
RGD |
PMID:10882225 |
RGD:4142832 |
NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
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G |
IL1B |
interleukin 1 beta |
disease_progression |
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:1519663 PMID:19556641 |
RGD:4142842 RGD:7401229 |
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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G |
IL5 |
interleukin 5 |
|
ISO |
protein:increased expression:lung,respiratory system fluid/secretion |
RGD |
PMID:19151189 |
RGD:4889106 |
NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
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G |
LOC610540 |
pulmonary surfactant-associated protein A-like |
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ISO |
protein:decreased expression:lung |
RGD |
PMID:10543276 |
RGD:4143437 |
NCBI chr 4:29,430,139...29,434,640
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G |
NOS2 |
nitric oxide synthase 2 |
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ISO |
protein:increased expression:lung |
RGD |
PMID:11789718 |
RGD:4891449 |
NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
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G |
SOD2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10673208 |
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NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
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G |
TAP1 |
transporter 1, ATP binding cassette subfamily B member |
susceptibility |
ISO |
DNA:polymorphisms:cds:P. D637G, P661P (human) |
RGD |
PMID:18342853 |
RGD:5147840 |
NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303
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G |
TLR6 |
toll like receptor 6 |
|
ISO |
|
RGD |
PMID:20070409 |
RGD:4889532 |
NCBI chr 3:73,504,357...73,523,964
Ensembl chr 3:73,520,706...73,523,099
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G |
TNC |
tenascin C |
|
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:9780295 |
RGD:4889595 |
NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281
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G |
TNF |
tumor necrosis factor |
|
ISO |
protein:increased expression:Bronchoalveolar Lavage Fluid |
RGD |
PMID:10882225 PMID:15653992 |
RGD:4142832 RGD:4143466 |
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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G |
TNFRSF1A |
TNF receptor superfamily member 1A |
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ISO |
protein:increased expression:alveolar macrophage (human) |
RGD |
PMID:15929959 |
RGD:5131148 |
NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
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G |
TNFRSF1B |
TNF receptor superfamily member 1B |
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ISO |
protein:increased expression:alveolar macrophage (human) |
RGD |
PMID:15929959 |
RGD:5131148 |
NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
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G |
VEGFA |
vascular endothelial growth factor A |
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ISO |
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RGD |
PMID:15764076 |
RGD:5684419 |
NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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G |
NLRP3 |
NLR family pyrin domain containing 3 |
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ISO |
ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1 |
OMIM ClinVar |
PMID:49161 PMID:447320 PMID:5173311 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 PMID:12522564 PMID:14630794 PMID:14872505 PMID:15020601 PMID:15231984 PMID:15334500 PMID:15593220 PMID:15724022 PMID:15801036 PMID:16081838 PMID:16100350 PMID:16255047 PMID:16646042 PMID:16802372 PMID:16920754 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17393462 PMID:17509468 PMID:17513575 PMID:18174231 PMID:18263599 PMID:18311798 PMID:19319132 PMID:19501000 PMID:20159265 PMID:20182451 PMID:20472245 PMID:21058222 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:22128899 PMID:22193915 PMID:22403613 PMID:22512814 PMID:22524199 PMID:22529966 PMID:22566169 PMID:22661645 PMID:22843550 PMID:22935299 PMID:23015306 PMID:23421920 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24431285 PMID:24649046 PMID:24759409 PMID:24773462 PMID:25038238 PMID:25586466 PMID:25596455 PMID:25639832 PMID:25730877 PMID:25741868 PMID:25821352 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27134254 PMID:27191192 PMID:27819323 PMID:27943240 PMID:27943647 PMID:27994174 PMID:28028683 PMID:28079503 PMID:28137891 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28692792 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29922587 PMID:29977033 PMID:30214525 PMID:30311386 PMID:30407166 PMID:30808881 PMID:32082075 PMID:32199921 PMID:33020839 More...
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NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059
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