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, liver |
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ISO |
DNA:SNPs: :multiple (human) |
RGD |
PMID:16387594 |
RGD:5129207 |
NCBI chr10:24,791,105...24,803,368
Ensembl chr10:24,791,119...24,803,382
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Arg2 |
arginase type II |
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ISO |
DNA:SNP (human) |
RGD |
PMID:16387594 |
RGD:5129207 |
NCBI chr12:79,177,562...79,203,075
Ensembl chr12:79,177,551...79,203,075
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Ccl11 |
chemokine (C-C motif) ligand 11 |
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ISO |
mRNA:increased expression:nasal cavity epithelium |
RGD |
PMID:15823807 |
RGD:2307177 |
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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Ccl5 |
chemokine (C-C motif) ligand 5 |
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ISO |
mRNA:increased expression:nasal cavity epithelium |
RGD |
PMID:15823807 |
RGD:2307177 |
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Dhodh |
dihydroorotate dehydrogenase |
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ISO |
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RGD |
PMID:9918599 |
RGD:2316235 |
NCBI chr 8:110,319,876...110,335,330
Ensembl chr 8:110,317,975...110,335,305
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Egfr |
epidermal growth factor receptor |
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ISO |
DNA:snps:multiple (human) |
RGD |
PMID:20357714 |
RGD:5131868 |
NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
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Egr1 |
early growth response 1 |
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IMP |
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RGD |
PMID:19188657 |
RGD:5131872 |
NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037
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Fcer2a |
Fc receptor, IgE, low affinity II, alpha polypeptide |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22967010 |
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NCBI chr 8:3,730,280...3,744,174
Ensembl chr 8:3,731,737...3,744,175
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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 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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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 chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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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 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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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 chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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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 chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Il4ra |
interleukin 4 receptor, alpha |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20485159 |
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NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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Ms4a2 |
membrane-spanning 4-domains, subfamily A, member 2 |
susceptibility |
ISO |
Atopy and bronchial hyperresponsiveness, OMIM:147050 Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:8817330 PMID:20485159 PMID:8817330 |
RGD:1599903, RGD:1599903 |
NCBI chr19:11,592,881...11,601,154
Ensembl chr19:11,592,887...11,601,083
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Pla2g7 |
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10733466 |
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NCBI chr17:43,878,885...43,923,093
Ensembl chr17:43,878,989...43,923,092
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Selp |
selectin, platelet |
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ISO |
atopy and bronchial hyperresponsiveness, OMIM:147050 |
RGD |
PMID:12929084 |
RGD:1599904 |
NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595
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Cxcl15 |
chemokine (C-X-C motif) ligand 15 |
treatment |
ISO |
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RGD |
PMID:30059697 |
RGD:39939057 |
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Ccl26 |
chemokine (C-C motif) ligand 26 |
treatment |
IDA |
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RGD |
PMID:25530546 |
RGD:11081163 |
NCBI chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
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Cysltr1 |
cysteinyl leukotriene receptor 1 |
treatment |
IMP |
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RGD |
PMID:23933317 |
RGD:40903070 |
NCBI chr X:105,617,952...105,647,329
Ensembl chr X:105,617,952...105,647,285
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Epx |
eosinophil peroxidase |
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ISO |
protein:increased expression:urine: |
RGD |
PMID:11846868 |
RGD:13506893 |
NCBI chr11:87,754,824...87,766,362
Ensembl chr11:87,754,826...87,766,362
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H2-Eb1 |
histocompatibility 2, class II antigen E beta |
susceptibility |
ISO ISS |
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MouseDO RGD |
PMID:22397267 |
RGD:13506905 |
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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H2-M2 |
histocompatibility 2, M region locus 2 |
susceptibility |
ISO ISS |
DNA:polymorphism: |
MouseDO RGD |
PMID:28380482 |
RGD:13506910 |
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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H2-Pa |
histocompatibility 2, P region alpha locus |
susceptibility |
ISO ISS |
DNA:polymorphism: |
MouseDO RGD |
PMID:28380482 |
RGD:13506910 |
NCBI chr17:34,303,587...34,304,826
Ensembl chr17:34,303,575...34,304,797
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Il25 |
interleukin 25 |
treatment |
IMP |
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RGD |
PMID:17889290 |
RGD:40902975 |
NCBI chr14:55,170,152...55,173,294
Ensembl chr14:55,170,152...55,173,294
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Trem1 |
triggering receptor expressed on myeloid cells 1 |
exacerbates |
IEP IDA |
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RGD |
PMID:21592044 PMID:21592044 |
RGD:126928124, RGD:126928124 |
NCBI chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952
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Ccl17 |
chemokine (C-C motif) ligand 17 |
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ISO |
associated with Cystic Fibrosis |
RGD |
PMID:17898016 |
RGD:4145612 |
NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664
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Ccr1 |
chemokine (C-C motif) receptor 1 |
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IMP |
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RGD |
PMID:15951834 |
RGD:5688155 |
NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
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Ccr2 |
chemokine (C-C motif) receptor 2 |
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IMP |
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RGD |
PMID:10946288 |
RGD:8661731 |
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Cftr |
cystic fibrosis transmembrane conductance regulator |
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ISO ISS |
DNA:mutations: : OMIM:103920 |
MouseDO RGD |
PMID:11243954 |
RGD:4140482 |
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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H2-Ab1 |
histocompatibility 2, class II antigen A, beta 1 |
susceptibility |
ISO ISS |
associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human) OMIM:103920 |
MouseDO RGD |
PMID:23278646 |
RGD:36049760 |
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1 |
histocompatibility 2, class II antigen E beta |
susceptibility |
ISO ISS |
associated with cystic fibrosis; DNA:polymorphisms: : OMIM:103920 |
MouseDO RGD |
PMID:23278646 |
RGD:36049760 |
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Icam1 |
intercellular adhesion molecule 1 |
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IEP |
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RGD |
PMID:7743671 |
RGD:8547590 |
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Il1a |
interleukin 1 alpha |
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IEP |
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RGD |
PMID:8699818 |
RGD:7794730 |
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Mbl2 |
mannose-binding lectin (protein C) 2 |
susceptibility |
ISO ISS |
Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human) OMIM:103920 DNA:SNP:intron:1011G>A(human) |
MouseDO RGD |
PMID:11474427 PMID:16487239 |
RGD:4889577, RGD:8693711 |
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Tlr9 |
toll-like receptor 9 |
susceptibility |
ISO ISS IMP |
DNA:SNP:promoter:g.-1237T>C rs5743836 (human) OMIM:103920 |
MouseDO RGD |
PMID:18275280 PMID:18936185 |
RGD:5130863, RGD:5130858 |
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Tnf |
tumor necrosis factor |
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IEP |
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RGD |
PMID:8699818 |
RGD:7794730 |
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf1a |
tumor necrosis factor receptor superfamily, member 1a |
susceptibility |
ISO ISS |
DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human) OMIM:103920 |
MouseDO RGD |
PMID:20646338 |
RGD:5131174 |
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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Ccl11 |
chemokine (C-C motif) ligand 11 |
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ISO |
mRNA:increased expression:conjunctiva |
RGD |
PMID:12682842 |
RGD:2307196 |
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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Ccl2 |
chemokine (C-C motif) ligand 2 |
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IMP |
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RGD |
PMID:19553621 |
RGD:8548840 |
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl5 |
chemokine (C-C motif) ligand 5 |
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ISO |
mRNA:increased expression:conjunctiva |
RGD |
PMID:12682842 |
RGD:2307196 |
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Ccl7 |
chemokine (C-C motif) ligand 7 |
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ISO |
protein:increased expression:conjunctiva |
RGD |
PMID:11090473 |
RGD:6483824 |
NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351
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Ccr3 |
chemokine (C-C motif) receptor 3 |
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IMP |
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RGD |
PMID:18658092 |
RGD:6893389 |
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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Icam1 |
intercellular adhesion molecule 1 |
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ISO |
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RGD |
PMID:8766745 |
RGD:8547686 |
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Ifng |
interferon gamma |
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ISO IMP |
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RGD |
PMID:12234900 PMID:16123425 |
RGD:8142386, RGD:8142391 |
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Il10 |
interleukin 10 |
treatment |
ISO IMP |
protein:increased expression:tear |
RGD |
PMID:22092652 PMID:16914468 PMID:15144463 PMID:19060266 |
RGD:7364837, RGD:11041889, RGD:7365076, RGD:7365027 |
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il13 |
interleukin 13 |
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ISO ISS |
associated with Allergic Rhinitis;DNA:SNPs, haplotype:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human) |
MouseDO RGD |
PMID:9191598 PMID:22023794 |
RGD:8549533, RGD:8549595 |
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il1b |
interleukin 1 beta |
treatment |
IEP |
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RGD |
PMID:9326725 |
RGD:7401198 |
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1rn |
interleukin 1 receptor antagonist |
treatment |
ISO ISS |
human protein in a mouse model |
MouseDO RGD |
PMID:10549671 |
RGD:8549802 |
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il4ra |
interleukin 4 receptor, alpha |
susceptibility |
ISO ISS |
associated with rhinitis; DNA:SNP: : rs2107356 (human) |
MouseDO RGD |
PMID:20002627 |
RGD:4890389 |
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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Irf1 |
interferon regulatory factor 1 |
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ISO |
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RGD |
PMID:14605445 |
RGD:5128787 |
NCBI chr11:53,660,841...53,669,200
Ensembl chr11:53,660,841...53,669,200
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Lck |
lymphocyte protein tyrosine kinase |
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ISO |
protein:increased phosphorylation:T cell |
RGD |
PMID:14507881 |
RGD:1600225 |
NCBI chr 4:129,442,137...129,467,434
Ensembl chr 4:129,442,137...129,467,434
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Muc1 |
mucin 1, transmembrane |
severity |
ISO |
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RGD |
PMID:17177679 |
RGD:7349351 |
NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688
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Muc2 |
mucin 2 |
severity |
ISO |
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RGD |
PMID:17177679 |
RGD:7349351 |
NCBI chr 7:141,276,583...141,308,428
Ensembl chr 7:141,276,583...141,308,430
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Muc4 |
mucin 4 |
severity |
ISO IEP |
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RGD |
PMID:17177679 PMID:11581187 |
RGD:7349351, RGD:7349400 |
NCBI chr16:32,555,089...32,602,761
Ensembl chr16:32,555,015...32,602,754
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Pla2g2a |
phospholipase A2, group IIA (platelets, synovial fluid) |
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ISO |
protein:increased expression:body fluid or substance |
RGD |
PMID:21042565 |
RGD:6482725 |
NCBI chr 4:138,559,168...138,562,500
Ensembl chr 4:138,559,171...138,562,497
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Tgfb1 |
transforming growth factor, beta 1 |
treatment |
IMP |
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RGD |
PMID:16914468 |
RGD:11041889 |
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Tlr2 |
toll-like receptor 2 |
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IMP |
associated with Staphylococcal Infections; |
RGD |
PMID:19358332 |
RGD:8552826 |
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4 |
toll-like receptor 4 |
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IMP ISO |
mRNA,protein:increased expression:conjunctiva: |
RGD |
PMID:21820713 PMID:16023216 PMID:21391988 |
RGD:7777131, RGD:7794849, RGD:7794770 |
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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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 chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Tnc |
tenascin C |
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ISO ISS |
DNA:SNPs: :multiple (human) |
MouseDO RGD |
PMID:18305139 |
RGD:4889589 |
NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252
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Abcb1a |
ATP-binding cassette, sub-family B (MDR/TAP), member 1A |
severity |
ISO ISS |
DNA:snp:exon:c.1236C>T (human) OMIM:607154 |
MouseDO RGD |
PMID:24040855 |
RGD:8657076 |
NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
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Ace |
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 |
no_association |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:15112973 |
RGD:8142345 |
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Bcl2 |
B cell leukemia/lymphoma 2 |
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ISO |
mRNA, protein:increased expression:nasal mucosa (rat) |
RGD |
PMID:15362690 |
RGD:11522724 |
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Cat |
catalase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29028686 |
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NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Ccl11 |
chemokine (C-C motif) ligand 11 |
treatment |
ISO |
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RGD |
PMID:23089405 |
RGD:7248414 |
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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Ccl26 |
chemokine (C-C motif) ligand 26 |
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ISO |
protein:increased expression:oronasal secretion (human) |
RGD |
PMID:23883806 |
RGD:7364793 |
NCBI chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
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Cd40 |
CD40 antigen |
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ISO |
protein:increased expression:lymphocyte |
RGD |
PMID:19086656 |
RGD:8547782 |
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd40lg |
CD40 ligand |
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ISO |
protein:increased expression:lymphocyte |
RGD |
PMID:19086656 |
RGD:8547782 |
NCBI chr X:56,257,503...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
treatment |
IDA |
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RGD |
PMID:10436391 |
RGD:11344920 |
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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F2 |
coagulation factor II |
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ISO |
protein:increased expression:nasal mucus |
RGD |
PMID:21711961 |
RGD:5147783 |
NCBI chr 2:91,442,742...91,466,802
Ensembl chr 2:91,455,665...91,466,759
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G |
Fcgr4 |
Fc receptor, IgG, low affinity IV |
susceptibility |
ISO ISS |
DNA:polymorphism:exon:p.F158V(rs396991)(human) OMIM:607154 |
MouseDO RGD |
PMID:18199088 |
RGD:5508449 |
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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|
G |
Gria1 |
glutamate receptor, ionotropic, AMPA1 (alpha 1) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34624383 |
|
NCBI chr11:56,902,342...57,221,070
Ensembl chr11:56,902,213...57,221,070
|
|
G |
Gria2 |
glutamate receptor, ionotropic, AMPA2 (alpha 2) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34624383 |
|
NCBI chr 3:80,588,757...80,711,534
Ensembl chr 3:80,588,757...80,710,142
|
|
G |
H2-M3 |
histocompatibility 2, M region locus 3 |
|
ISO |
|
RGD |
PMID:20487636 |
RGD:5144132 |
NCBI chr17:37,581,094...37,585,376
Ensembl chr17:37,581,111...37,585,375
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|
G |
Hrh1 |
histamine receptor H1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23333628 |
|
NCBI chr 6:114,374,897...114,460,259
Ensembl chr 6:114,374,897...114,460,257
|
|
G |
Ifng |
interferon gamma |
treatment |
ISO |
associated with Asthma |
RGD |
PMID:12787306 PMID:18510219 |
RGD:7829803, RGD:10755770 |
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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|
G |
Il10 |
interleukin 10 |
treatment |
ISO IDA |
|
RGD |
PMID:23883806 PMID:23253209 |
RGD:7364793, RGD:7364818 |
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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|
G |
Il13 |
interleukin 13 |
susceptibility no_association |
ISO |
DNA:polymorphism:exon:c. 2044G>A (human) ClinVar Annotator: match by term: Allergic rhinitis CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.R130Q (rs20541) (human) DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) DNA:SNP:promoter:-1512A>C (rs1881457) (human) |
ClinVar CTD OMIM RGD |
PMID:10699178 PMID:12928861 PMID:15356556 PMID:15483090 PMID:15711639 PMID:17091279 PMID:22852128 PMID:12928861 PMID:23996716 More...
|
RGD:4152796, RGD:8549518, RGD:8549516, RGD:8549501 |
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
|
|
G |
Il13ra2 |
interleukin 13 receptor, alpha 2 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21462799 |
RGD:8549521 |
NCBI chr X:146,166,474...146,214,982
Ensembl chr X:146,166,472...146,212,188
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|
G |
Il17a |
interleukin 17A |
susceptibility |
ISO ISS |
DNA:snp:promoter:c.-444A>G (human) OMIM:607154 mRNA:increased expression:peripheral blood mononuclear cell (human) |
MouseDO RGD |
PMID:22507625 PMID:21535180 |
RGD:9068429, RGD:5147409 |
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
|
|
G |
Il18 |
interleukin 18 |
severity no_association |
ISO ISS |
DNA:SNP:promoter:-137G>C (rs187238) (human) OMIM:607154 DNA:SNP:promoter:-140C>G (rs360721) (human) |
MouseDO RGD |
PMID:22840759 PMID:22840759 |
RGD:8655914, RGD:8655914 |
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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|
G |
Il1b |
interleukin 1 beta |
|
ISO |
protein:increased expression:nasal mucus |
RGD |
PMID:7750009 |
RGD:7401199 |
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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G |
Il2 |
interleukin 2 |
|
ISO |
|
RGD |
PMID:12592663 |
RGD:8662963 |
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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|
G |
Il4 |
interleukin 4 |
treatment |
ISO |
|
RGD |
PMID:9893928 PMID:24620662 PMID:8908280 PMID:14653048 |
RGD:7829796, RGD:11522769, RGD:7829827, RGD:7829802 |
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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|
G |
Il5 |
interleukin 5 |
treatment |
ISO |
|
RGD |
PMID:23934070 PMID:24620662 |
RGD:11354976, RGD:11522769 |
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
|
|
G |
Itgb2 |
integrin beta 2 |
treatment |
ISO |
|
RGD |
PMID:12046991 |
RGD:9698435 |
NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
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|
G |
Muc1 |
mucin 1, transmembrane |
severity |
ISO |
mRNA,protein:decreased expression:nasal mucosa |
RGD |
PMID:31425778 PMID:31425778 PMID:31425778 |
RGD:127345100, RGD:127345100, RGD:127345100 |
NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688
|
|
G |
Muc5ac |
mucin 5, subtypes A and C, tracheobronchial/gastric |
|
ISO |
mRNA, protein:increased expression:nasal cavity epithelium |
RGD |
PMID:22972875 |
RGD:7364746 |
NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968
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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 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
|
|
G |
Pon1 |
paraoxonase 1 |
severity |
ISO |
protein:decreased activity:plasma (human) |
RGD |
PMID:23406590 |
RGD:8547583 |
NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
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|
G |
Prkg1 |
protein kinase, cGMP-dependent, type I |
|
ISO |
protein:increased expression:nasal cavity epithelium |
RGD |
PMID:24012634 |
RGD:7775060 |
NCBI chr19:30,541,887...31,742,667
Ensembl chr19:30,541,889...31,742,433
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|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16979129 |
|
NCBI chr 1:149,975,782...149,983,985
Ensembl chr 1:149,975,782...149,983,978
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G |
Scgb1a1 |
secretoglobin, family 1A, member 1 |
|
IEP |
mRNA:decreased expression:nasal mucosa, lung |
RGD |
PMID:17882576 |
RGD:5144135 |
NCBI chr19:9,061,006...9,065,320
Ensembl chr19:9,061,000...9,065,322
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G |
Scgb3a2 |
secretoglobin, family 3A, member 2 |
susceptibility |
ISO ISS |
DNA:SNP: :rs7726552 (human) OMIM:607154 |
MouseDO RGD |
PMID:21410962 |
RGD:5144225 |
NCBI chr18:43,897,346...43,900,464
Ensembl chr18:43,897,354...43,900,464
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|
G |
Serpine1 |
serine (or cysteine) peptidase inhibitor, clade E, member 1 |
|
IEP |
mRNA:increased expression:nasal mucosa (mouse) |
RGD |
PMID:21339035 |
RGD:8547809 |
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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|
G |
Tacr1 |
tachykinin receptor 1 |
|
ISO |
mRNA:increased expression:nasal mucosa |
RGD |
PMID:12768696 |
RGD:5147835 |
NCBI chr 6:82,378,990...82,537,085
Ensembl chr 6:82,379,315...82,537,085
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|
G |
Tgfb1 |
transforming growth factor, beta 1 |
treatment |
ISO |
|
RGD |
PMID:31368266 |
RGD:14995445 |
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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|
G |
Tlr2 |
toll-like receptor 2 |
severity |
ISO ISS IDA |
DNA:polymorphism:cds:p.R753Q(human) OMIM:607154 protein:increased expression:neutrophil: mRNA:decreased expression:nasal mucosa: |
MouseDO RGD |
PMID:22402138 PMID:22555057 PMID:18381801 PMID:18219831 |
RGD:7800732, RGD:8552993, RGD:8552972, RGD:7800742 |
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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|
G |
Tlr4 |
toll-like receptor 4 |
severity treatment susceptibility no_association |
ISO ISS |
DNA:polymorphism:cds:p.D299G(human) OMIM:607154 protein:increased expression:nasal lavage,leukocyte, bone marrow: protein:decreased expression:nasal mucosa: DNA:SNP: :rs1927911(human) DNA:polymorphism: :4216G>C(human) |
MouseDO RGD |
PMID:22402138 PMID:22555057 PMID:22577387 PMID:17069098 PMID:23639307 PMID:19763595 More...
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RGD:7800732, RGD:8552993, RGD:7800740, RGD:7800738, RGD:7800736, RGD:4145354 |
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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|
G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
protein:decreased expression:nasal mucosa: |
RGD |
PMID:22577387 |
RGD:7800740 |
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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|
|
G |
Cyp2c38 |
cytochrome P450, family 2, subfamily c, polypeptide 38 |
treatment |
ISO |
associated with Eosinophilic Esophagitis; DNA:polymorphisms:: |
RGD |
PMID:26416193 |
RGD:11352743 |
NCBI chr19:39,378,000...39,451,547
Ensembl chr19:39,378,000...39,451,519
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|
G |
Cyp2c66 |
cytochrome P450, family 2, subfamily c, polypeptide 66 |
treatment |
ISO |
associated with Eosinophilic Esophagitis; DNA:polymorphisms:: |
RGD |
PMID:26416193 |
RGD:11352743 |
NCBI chr19:39,102,342...39,175,200
Ensembl chr19:39,102,342...39,175,516
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G |
Il3 |
interleukin 3 |
susceptibility |
ISO |
DNA:SNP: :rs40401(human) |
RGD |
PMID:23953855 |
RGD:13506915 |
NCBI chr11:54,155,911...54,158,105
Ensembl chr11:54,156,129...54,158,103
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|
|
G |
Adrb1 |
adrenergic receptor, beta 1 |
disease_progression |
ISO |
|
RGD |
PMID:20959119 |
RGD:6893644 |
NCBI chr19:56,710,549...56,713,582
Ensembl chr19:56,710,631...56,721,545
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|
G |
Agt |
angiotensinogen (serpin peptidase inhibitor, clade A, member 8) |
|
ISO |
|
RGD |
PMID:1422942 |
RGD:8548893 |
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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|
G |
Aspg |
asparaginase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:65671 |
|
NCBI chr12:112,073,117...112,094,007
Ensembl chr12:112,073,113...112,093,993
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|
G |
Btk |
Bruton agammaglobulinemia tyrosine kinase |
treatment |
ISO |
|
RGD |
PMID:22228807 |
RGD:11040701 |
NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319
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|
G |
Cabs1 |
calcium binding protein, spermatid specific 1 |
treatment |
ISO |
|
RGD |
PMID:25632019 |
RGD:14400306 |
NCBI chr 5:88,127,310...88,129,400
Ensembl chr 5:88,127,298...88,129,403
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G |
Cma1 |
chymase 1, mast cell |
|
ISO |
protein:increased expression:lung, mast cell (human) |
RGD |
PMID:17081716 |
RGD:5128820 |
NCBI chr14:56,178,908...56,182,132
Ensembl chr14:56,178,908...56,182,132
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|
G |
Fcgr3 |
Fc receptor, IgG, low affinity III |
susceptibility |
ISO |
associated with Agammaglobulinemia;DNA:mutation:splice junction: |
RGD |
PMID:23545275 PMID:26396093 |
RGD:11040993, RGD:11040995 |
NCBI chr 1:170,878,738...170,893,476
Ensembl chr 1:170,878,743...170,892,504
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|
G |
Grap2 |
GRB2-related adaptor protein 2 |
ameliorates |
IMP |
|
RGD |
PMID:18664516 |
RGD:126790488 |
NCBI chr15:80,456,798...80,537,055
Ensembl chr15:80,456,795...80,537,055
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|
G |
Hdac3 |
histone deacetylase 3 |
|
IMP |
|
RGD |
PMID:24619412 |
RGD:9590165 |
NCBI chr18:38,070,024...38,088,073
Ensembl chr18:38,068,897...38,088,069
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|
G |
Hp |
haptoglobin |
|
ISO |
|
RGD |
PMID:12147031 |
RGD:11041789 |
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
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|
G |
Il4 |
interleukin 4 |
|
IEP 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 chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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G |
Kng2 |
kininogen 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7623993 |
|
NCBI chr16:22,804,602...22,847,851
Ensembl chr16:22,804,604...22,848,232
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|
G |
Ltb4r1 |
leukotriene B4 receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10934231 |
|
NCBI chr14:56,003,419...56,005,949
Ensembl chr14:56,003,419...56,005,951
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|
G |
Nlrp3 |
NLR family, pyrin domain containing 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19767079 |
|
NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
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|
G |
Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
|
ISO |
|
RGD |
PMID:18480553 |
RGD:2300247 |
NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
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|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO IMP |
|
RGD |
PMID:18480553 PMID:17822719 |
RGD:2300247, RGD:1642600 |
NCBI chr 1:149,975,782...149,983,985
Ensembl chr 1:149,975,782...149,983,978
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|
G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
ISO |
|
RGD |
PMID:21604443 |
RGD:7207802 |
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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|
G |
Wfdc6a |
WAP four-disulfide core domain 6A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20693069 |
|
NCBI chr 2:164,421,439...164,427,704
Ensembl chr 2:164,421,439...164,427,367
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|
|
G |
Cacng6 |
calcium channel, voltage-dependent, gamma subunit 6 |
susceptibility |
ISO ISS |
DNA:SNP,haplotype:rs192808(human) |
MouseDO RGD |
PMID:20860846 |
RGD:13524562 |
NCBI chr 7:3,472,017...3,484,183
Ensembl chr 7:3,472,711...3,484,183
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|
G |
Ccr3 |
chemokine (C-C motif) receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20485159 PMID:20022477 |
RGD:4145619 |
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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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:105,617,952...105,647,329
Ensembl chr X:105,617,952...105,647,285
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G |
Cysltr2 |
cysteinyl leukotriene receptor 2 |
|
ISO |
DNA:SNPs: :-819T>G, 2078C>T, 2534A>G (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16502481 PMID:20485159 PMID:15970796 |
RGD:5144000 |
NCBI chr14:73,263,515...73,286,554
Ensembl chr14:73,263,043...73,286,554
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G |
Fancc |
Fanconi anemia, complementation group C |
|
ISO ISS |
DNA:haplotype::rs4647416(human) |
MouseDO RGD |
PMID:21670957 |
RGD:11045795 |
NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092
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|
G |
H2-Aa |
histocompatibility 2, class II antigen A, alpha |
susceptibility |
ISO ISS |
|
MouseDO RGD |
PMID:25975240 |
RGD:11074090 |
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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|
G |
H2-Ab1 |
histocompatibility 2, class II antigen A, beta 1 |
susceptibility |
ISO ISS |
|
MouseDO RGD |
PMID:25975240 |
RGD:11074090 |
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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|
G |
H2-Eb1 |
histocompatibility 2, class II antigen E beta |
susceptibility |
ISO ISS |
|
MouseDO RGD |
PMID:25975240 |
RGD:11074090 |
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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|
G |
Il4 |
interleukin 4 |
susceptibility |
ISO ISS |
DNA:SNPs:promoter,5'UTR,intron:multiple |
MouseDO RGD |
PMID:20921925 |
RGD:11528633 |
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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|
G |
Ltc4s |
leukotriene C4 synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9393345 PMID:9466979 PMID:10970818 PMID:20485159 |
|
NCBI chr11:50,127,288...50,129,378
Ensembl chr11:50,127,288...50,129,443
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|
G |
Ms4a2 |
membrane-spanning 4-domains, subfamily A, member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16502481 |
|
NCBI chr19:11,592,881...11,601,154
Ensembl chr19:11,592,887...11,601,083
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G |
Postn |
periostin, osteoblast specific factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18391768 |
|
NCBI chr 3:54,266,688...54,298,462
Ensembl chr 3:54,268,530...54,298,458
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|
G |
Ptgdr2 |
prostaglandin D2 receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20485159 |
|
NCBI chr19:10,901,883...10,919,875
Ensembl chr19:10,914,524...10,919,875
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|
G |
Ptger2 |
prostaglandin E receptor 2 (subtype EP2) |
|
ISO |
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:15496426 PMID:16502481 |
|
NCBI chr14:45,225,568...45,241,277
Ensembl chr14:45,225,652...45,241,277
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|
G |
Ptgir |
prostaglandin I receptor (IP) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20485159 |
|
NCBI chr 7:16,640,415...16,644,830
Ensembl chr 7:16,640,415...16,644,830
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|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
protein:increased expression:mast cell CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16502481 PMID:20485159 PMID:9487340 |
RGD:5143936 |
NCBI chr 1:149,975,782...149,983,985
Ensembl chr 1:149,975,782...149,983,978
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|
G |
Tap2 |
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) |
|
ISO ISS |
|
MouseDO RGD |
PMID:21796142 |
RGD:5147839 |
NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295
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|
G |
Tbx21 |
T-box 21 |
|
ISO |
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:15806396 PMID:16502481 |
|
NCBI chr11:96,988,833...97,006,157
Ensembl chr11:96,988,897...97,006,157
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|
G |
Tbxa2r |
thromboxane A2 receptor |
susceptibility |
ISO |
DNA:polymorphism: :795T>C (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16502481 PMID:20485159 PMID:15898979 |
RGD:11059537 |
NCBI chr10:81,164,102...81,171,008
Ensembl chr10:81,164,565...81,171,006
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G |
Abcb1a |
ATP-binding cassette, sub-family B (MDR/TAP), member 1A |
|
ISO |
protein:increased expression:blood, lymphocyte |
RGD |
PMID:19484671 |
RGD:4890020 |
NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
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G |
Abcc1 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 1 |
|
IMP |
|
RGD |
PMID:18931056 |
RGD:5128825 |
NCBI chr16:14,179,317...14,292,743
Ensembl chr16:14,179,422...14,293,601
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G |
Abo |
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase, transferase B, alpha 1-3-galactosyltransferase) |
no_association |
ISO ISS |
OMIM:600807 |
MouseDO RGD |
PMID:16008680 PMID:19771478 |
RGD:5128831, RGD:5128835 |
NCBI chr 2:26,732,508...26,755,007
Ensembl chr 2:26,732,515...26,754,991
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G |
Ace |
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 |
susceptibility |
ISO ISS |
DNA:polymorphism (human) OMIM:600807 |
MouseDO RGD |
PMID:19383228 PMID:19484664 |
RGD:4140919, RGD:4140913 |
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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G |
Acsl3 |
acyl-CoA synthetase long-chain family member 3 |
|
ISO ISS |
DNA:hypermethylation:promoter OMIM:600807 |
MouseDO RGD |
PMID:19221603 |
RGD:13831295 |
NCBI chr 1:78,635,542...78,685,460
Ensembl chr 1:78,635,542...78,685,460
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G |
Ada |
adenosine deaminase |
susceptibility |
ISO ISS |
DNA:polymorphisms (human) OMIM:600807 |
MouseDO RGD |
PMID:16754522 |
RGD:5128848 |
NCBI chr 2:163,568,491...163,592,161
Ensembl chr 2:163,568,504...163,592,159
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G |
Adam33 |
a disintegrin and metallopeptidase domain 33 |
susceptibility no_association disease_progression |
ISO ISS IEP |
DNA:SNPs: :multiple (human) OMIM:600807 DNA:SNPs:introns,exon:7575G>A, 11188A>T, 12433T>C (human) mRNA:increased expression:bronchus DNA:polymorphism: :p.M764T (human) mRNA:increased expression:lung DNA:SNPs (human) |
MouseDO RGD |
PMID:18778489 PMID:15118671 PMID:16893396 PMID:17339047 PMID:17961406 PMID:19635592 PMID:19940503 More...
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RGD:4145378, RGD:1331525, RGD:4145382, RGD:4145380, RGD:4145379, RGD:4145360, RGD:4145359 |
NCBI chr 2:130,892,739...130,905,734
Ensembl chr 2:130,892,511...130,905,734
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G |
Adam8 |
a disintegrin and metallopeptidase domain 8 |
severity |
ISO IEP IMP |
mRNA:increased expression:bronchus mRNA:increased expression:respiratory tract |
RGD |
PMID:17339047 PMID:19373511 PMID:20194813 |
RGD:4145380, RGD:5128878, RGD:5128872 |
NCBI chr 7:139,558,845...139,573,016
Ensembl chr 7:139,558,845...139,572,475
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G |
Adcy2 |
adenylate cyclase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
|
NCBI chr13:68,768,162...69,147,719
Ensembl chr13:68,768,162...69,147,660
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G |
Adcyap1r1 |
adenylate cyclase activating polypeptide 1 receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21059121 |
|
NCBI chr 6:55,428,486...55,478,440
Ensembl chr 6:55,428,963...55,478,436
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G |
Adh5 |
alcohol dehydrogenase 5 (class III), chi polypeptide |
susceptibility |
ISO ISS IMP |
OMIM:600807 protein:increased expression:respiratory system fluid/secretion DNA:SNPs: :rs1154404, rs28730619 (human) |
MouseDO RGD |
PMID:19514054 PMID:19395503 PMID:17543375 PMID:15919956 |
RGD:5128890, RGD:5128891, RGD:5128882, RGD:5128892 |
NCBI chr 3:138,142,961...138,161,260
Ensembl chr 3:138,148,854...138,161,260
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
IMP |
|
RGD |
PMID:19168697 |
RGD:5686821 |
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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G |
Adora1 |
adenosine A1 receptor |
|
ISO ISS IMP |
DNA:SNPs: :1405C>T (human) OMIM:600807 protein:increased expression:bronchus |
MouseDO RGD |
PMID:19019667 PMID:20400685 PMID:17959644 |
RGD:4890386, RGD:4145444, RGD:5129097 |
NCBI chr 1:134,126,953...134,163,195
Ensembl chr 1:134,126,961...134,163,169
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G |
Adora2a |
adenosine A2a receptor |
|
ISO ISS IMP IDA IEP |
DNA:SNP (human) OMIM:600807 mRNA:decreased expression:aorta |
MouseDO RGD |
PMID:19019667 PMID:17293374 PMID:16339780 PMID:18310516 |
RGD:4890386, RGD:4890380, RGD:4890385, RGD:4890366 |
NCBI chr10:75,152,711...75,170,626
Ensembl chr10:75,152,711...75,170,618
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G |
Adrb2 |
adrenergic receptor, beta 2 |
susceptibility |
ISO IMP |
ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to CTD Direct Evidence: marker/mechanism DNA:SNP: :-1023A>G (human) DNA:SNPs: :p.R16G, p.Q27E (human) DNA:polymorphism: :p.R16G (human) DNA:SNPs:promoter:multiple (human) DNA:SNP: :p.Q27E (human) |
ClinVar CTD OMIM RGD |
PMID:8383511 PMID:15284533 PMID:16596417 PMID:1655856 PMID:15118671 PMID:19638684 PMID:18785519 PMID:19029431 PMID:20443840 PMID:20004781 PMID:19800676 PMID:18569231 PMID:19423772 More...
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RGD:5129113, RGD:1331525, RGD:4145081, RGD:4145094, RGD:4145092, RGD:4145108, RGD:4145105, RGD:4145061, RGD:4145096, RGD:4145107 |
NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
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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) |
CTD RGD |
PMID:23304218 PMID:33075463 PMID:21920897 PMID:23304218 |
RGD:7244279, RGD:6767554, RGD:7244279 |
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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G |
Agtr1a |
angiotensin II receptor, type 1a |
|
IMP ISO |
|
RGD |
PMID:17877756 PMID:19080339 |
RGD:5147452, RGD:5147457 |
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
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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:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403
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G |
Aldh2 |
aldehyde dehydrogenase 2, mitochondrial |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9600491 PMID:11506308 PMID:15118671 |
RGD:1331525 |
NCBI chr 5:121,704,090...121,731,887
Ensembl chr 5:121,704,090...121,731,887
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G |
Alox15 |
arachidonate 15-lipoxygenase |
|
IEP IMP |
protein:increased expression:lung |
RGD |
PMID:19628725 PMID:18692885 |
RGD:5509605, RGD:5509784 |
NCBI chr11:70,234,973...70,279,465
Ensembl chr11:70,234,978...70,242,857
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G |
Alox5 |
arachidonate 5-lipoxygenase |
no_association susceptibility treatment severity |
ISO IMP IEP IDA |
DNA:polymorphism:promoter (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:blood, leukocyte protein:increased expression:lung DNA:repeat:promoter (human) DNA:polymorphism:cds:p.E254K (human) |
CTD OMIM RGD |
PMID:20128419 PMID:10369259 PMID:9642160 PMID:12911785 PMID:8879219 PMID:11035107 PMID:19033731 PMID:16364163 PMID:18204779 PMID:17394438 More...
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RGD:4890407, RGD:734557, RGD:5147467, RGD:5147465, RGD:5147462, RGD:4890422, RGD:4890408, RGD:4890415, RGD:4890410, RGD:4890413 |
NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139
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G |
Alox5ap |
arachidonate 5-lipoxygenase activating protein |
susceptibility no_association |
ISO ISS IMP IEP |
DNA:SNP: :rs10507391 (human) OMIM:600807 mRNA:increased expression:blood, leukocyte DNA:repeat:promoter:-169(A)21 (human) DNA:substitution, repeat:promoter:-336G>A, -169(A)19-23 (human) DNA:polymorphisms:intron:IVS2+12C>A, IVS2+105T>C (human) protein:increased expression:lung DNA:polymorphism:promoter (human) DNA:SNPs (human) |
MouseDO RGD |
PMID:20067482 PMID:9642160 PMID:10527888 PMID:12911785 PMID:15784112 PMID:8879219 PMID:11035107 PMID:20128419 PMID:18547289 More...
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RGD:4890405, RGD:5147467, RGD:5147466, RGD:5147465, RGD:5147464, RGD:5147462, RGD:4890422, RGD:4890407, RGD:4890409 |
NCBI chr 5:149,201,814...149,224,963
Ensembl chr 5:149,201,577...149,224,963
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G |
Ambp |
alpha 1 microglobulin/bikunin precursor |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:14621078 |
RGD:6904149 |
NCBI chr 4:63,061,512...63,072,409
Ensembl chr 4:63,061,512...63,073,036
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G |
Ang |
angiogenin, ribonuclease, RNase A family, 5 |
severity |
ISO |
protein:increased expression:sputum |
RGD |
PMID:16478840 |
RGD:6892719 |
NCBI chr14:51,328,534...51,339,466
Ensembl chr14:51,328,607...51,339,466
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G |
Anxa1 |
annexin A1 |
|
IMP |
|
RGD |
PMID:22092555 |
RGD:7421657 |
NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308
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G |
Areg |
amphiregulin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15696081 |
|
NCBI chr 5:91,287,458...91,296,291
Ensembl chr 5:91,287,458...91,296,291
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|
G |
Arg1 |
arginase, liver |
|
ISO IEP |
DNA:SNP: :rs2781667 (human) CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:lung, mononuclear cell (human) mRNA:increased expression:lung (mouse) |
CTD RGD |
PMID:19281908 PMID:19800904 PMID:20124949 PMID:12813022 PMID:12813022 |
RGD:5129205, RGD:4143187, RGD:4143187 |
NCBI chr10:24,791,105...24,803,368
Ensembl chr10:24,791,119...24,803,382
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G |
Arg2 |
arginase type II |
severity susceptibility |
ISO IEP |
DNA:SNP: :rs3742879, rs17249437 (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (mouse) DNA:SNPs (human) |
CTD RGD |
PMID:19281908 PMID:20124949 PMID:12813022 PMID:16387594 |
RGD:5129205, RGD:4143187, RGD:5129207 |
NCBI chr12:79,177,562...79,203,075
Ensembl chr12:79,177,551...79,203,075
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G |
Bcl2 |
B cell leukemia/lymphoma 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18357729 |
|
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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G |
Bdkrb2 |
bradykinin receptor, beta 2 |
onset |
ISO ISS |
DNA:polymorphism:exon (human) OMIM:600807 protein:increased expression:blood, eosinophil |
MouseDO RGD |
PMID:11517947 PMID:8856156 PMID:14727005 PMID:19038786 |
RGD:4890456, RGD:4891042, RGD:4890454, RGD:4891028 |
NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496
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G |
Bdnf |
brain derived neurotrophic factor |
susceptibility severity |
ISO ISS |
protein:decreased expression:blood, eosinophil OMIM:600807 DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human) DNA:polymorphisms: :p.V66M, -270C>T (human) protein:increased expression:plasma DNA:polymorphisms: :p.V66M (rs6265) (human) |
MouseDO RGD |
PMID:12752594 PMID:21723144 PMID:17584309 PMID:20874832 PMID:19895626 PMID:11737043 More...
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RGD:4891122, RGD:8655967, RGD:4891067, RGD:4891063, RGD:4891117, RGD:4891123 |
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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G |
Bglap |
bone gamma carboxyglutamate protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8429434 |
|
NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771
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G |
Bmpr1b |
bone morphogenetic protein receptor, type 1B |
|
ISO |
protein:decreased expression:bronchus |
RGD |
PMID:18292470 |
RGD:5129470 |
NCBI chr 3:141,540,230...141,875,335
Ensembl chr 3:141,542,897...141,875,186
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G |
Bmpr2 |
bone morphogenetic protein receptor, type II (serine/threonine kinase) |
|
ISO |
protein:decreased expression:bronchus |
RGD |
PMID:18292470 |
RGD:5129470 |
NCBI chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173
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G |
C3 |
complement component 3 |
severity |
IMP ISS ISO IEP |
OMIM:600807 protein:increased expression:serum DNA:SNP:intron:rs11569562 (human) DNA:SNP: :4896C>T (human) protein:increased expression:respiratory system fluid/secretion Interaction with IL4RA DNA:SNPs: :multiple (human) |
MouseDO RGD |
PMID:11591733 PMID:20589464 PMID:18566738 PMID:15278436 PMID:20802484 PMID:20402389 PMID:20395963 PMID:16355111 More...
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RGD:5129517, RGD:5129519, RGD:5129501, RGD:5129512, RGD:5129681, RGD:5129537, RGD:5129538, RGD:5129505 |
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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G |
C3ar1 |
complement component 3a receptor 1 |
severity |
ISO ISS IMP IEP |
OMIM:600807 mRNA:increased expression:lung protein:increased expression:lung, leukocyte |
MouseDO RGD |
PMID:15278436 PMID:20802484 PMID:20045013 PMID:17544263 PMID:15940127 PMID:17544263 More...
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RGD:5129512, RGD:5129681, RGD:5129686, RGD:5129560, RGD:5129561, RGD:5129560 |
NCBI chr 6:122,824,099...122,833,116
Ensembl chr 6:122,824,097...122,833,120
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G |
C5ar1 |
complement component 5a receptor 1 |
severity |
IMP IEP ISO |
protein:increased expression:lung, leukocyte protein:increased expression:respiratory tract |
RGD |
PMID:16511606 PMID:20802484 PMID:17544263 PMID:15940127 |
RGD:5130166, RGD:5129681, RGD:5129560, RGD:5129561 |
NCBI chr 7:15,980,668...15,993,465
Ensembl chr 7:15,980,668...15,993,465
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G |
Card11 |
caspase recruitment domain family, member 11 |
susceptibility |
IMP ISO |
ClinVar Annotator: match by term: Asthma |
ClinVar RGD |
PMID:18323416 PMID:23129749 PMID:25741868 PMID:28492532 PMID:16751370 |
RGD:11100037 |
NCBI chr 5:140,858,754...140,986,351
Ensembl chr 5:140,858,745...140,986,337
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G |
Carm1 |
coactivator-associated arginine methyltransferase 1 |
|
ISO |
mRNA:decreased expression:lung |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr 9:21,458,168...21,500,763
Ensembl chr 9:21,458,190...21,503,919
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G |
Casp1 |
caspase 1 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:12396474 |
RGD:5130192 |
NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
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G |
Cat |
catalase |
severity |
ISO IDA |
DNA:polymorphism:promoter:-21A>T (human) CTD Direct Evidence: marker/mechanism protein:decreased activity DNA:polymorphism:promoter:-262C>T (human) protein:increased expression:erythrocyte |
CTD RGD |
PMID:18048809 PMID:19373626 PMID:16622028 PMID:18048809 PMID:19475625 |
RGD:5130753, RGD:5130867, RGD:5130856, RGD:5130751 |
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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G |
Ccl1 |
chemokine (C-C motif) ligand 1 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:20455898 |
RGD:4891420 |
NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516
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G |
Ccl11 |
chemokine (C-C motif) ligand 11 |
susceptibility treatment severity |
ISO IEP IMP |
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism DNA:polymorphism: :p.A23T (human) mRNA:increased expression:lung |
CTD OMIM RGD |
PMID:16304252 PMID:22932891 PMID:17074272 PMID:17845580 PMID:20704746 PMID:18250471 PMID:9034156 PMID:17060636 More...
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RGD:5130930, RGD:7248416, RGD:4145461, RGD:4145457, RGD:4145387, RGD:4145392, RGD:4145451, RGD:4891485 |
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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G |
Ccl17 |
chemokine (C-C motif) ligand 17 |
|
ISO IMP IEP IDA |
mRNA:increased expression:lung protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:15993846 PMID:11160256 PMID:20074456 PMID:15947487 PMID:20237293 |
RGD:2306304, RGD:4145603, RGD:4145487, RGD:4145513, RGD:4145486 |
NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664
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G |
Ccl19 |
chemokine (C-C motif) ligand 19 |
|
ISO |
protein:increased expression:bronchus submucosa, mast cell |
RGD |
PMID:16959919 |
RGD:5130911 |
NCBI chr 4:42,754,525...42,756,365
Ensembl chr 4:42,754,525...42,756,577
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G |
Ccl2 |
chemokine (C-C motif) ligand 2 |
severity treatment |
ISO IEP IDA |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (mouse) DNA:haplotype::-2518A>G (human) protein:increased expression:lung |
CTD RGD |
PMID:19373627 PMID:19373627 PMID:12055264 PMID:25441643 PMID:23454776 PMID:17964702 PMID:20205697 More...
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RGD:4891466, RGD:11528570, RGD:11528569, RGD:8551842, RGD:2307055, RGD:4145509 |
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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G |
Ccl20 |
chemokine (C-C motif) ligand 20 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion associated with Allergic Rhinitis;protein:increased expression:serum |
RGD |
PMID:18422729 PMID:22469443 |
RGD:7483597, RGD:7483618 |
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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G |
Ccl22 |
chemokine (C-C motif) ligand 22 |
|
IMP ISO IEP |
mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion mRNA:increased expression:lung protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:10384142 PMID:18684970 PMID:15993846 PMID:18316417 |
RGD:4891475, RGD:4145489, RGD:2306304, RGD:4891474 |
NCBI chr 8:95,472,312...95,478,016
Ensembl chr 8:95,472,218...95,478,327
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G |
Ccl24 |
chemokine (C-C motif) ligand 24 |
susceptibility |
ISO ISS IMP |
DNA:SNPs: :179T>C, 275C>T (human) OMIM:600807 DNA:SNPs: :304C>A, 1272A>G (human) protein:increased expression:respiratory system fluid/secretion DNA:SNP: :1265A>G (human) protein:increased expression:plasma |
MouseDO RGD |
PMID:15207712 PMID:17548626 PMID:18712274 PMID:12952266 PMID:12761043 PMID:17060636 PMID:16304252 More...
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RGD:4891495, RGD:4891484, RGD:4891483, RGD:4891496, RGD:5130932, RGD:4891485, RGD:5130930 |
NCBI chr 5:135,598,789...135,601,977
Ensembl chr 5:135,598,791...135,601,903
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G |
Ccl26 |
chemokine (C-C motif) ligand 26 |
treatment |
ISO ISS IDA |
protein:increased expression:plasma OMIM:600807 DNA:SNPs: :77C>T, 2497T>G (human) DNA:SNPs: :77C>T, 716A>G, 1579G>A (human) |
MouseDO RGD |
PMID:16304252 PMID:25399816 PMID:25530546 PMID:15207712 PMID:18712274 |
RGD:5130930, RGD:11087575, RGD:11081163, RGD:4891495, RGD:4891483 |
NCBI chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
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G |
Ccl27a |
chemokine (C-C motif) ligand 27A |
|
ISO |
|
RGD |
PMID:19541356 |
RGD:5130899 |
NCBI chr 4:41,769,467...41,774,251
Ensembl chr 4:41,769,467...41,774,247
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G |
Ccl28 |
chemokine (C-C motif) ligand 28 |
|
IEP |
mRNA:increased expression:lung (mouse) |
RGD |
PMID:16290206 |
RGD:4892195 |
NCBI chr13:120,085,355...120,115,895
Ensembl chr13:120,085,355...120,115,895
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G |
Ccl4 |
chemokine (C-C motif) ligand 4 |
|
ISO |
|
RGD |
PMID:18774390 |
RGD:5130915 |
NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509
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G |
Ccl5 |
chemokine (C-C motif) ligand 5 |
susceptibility |
IEP ISO |
protein:increased expression:lung, secretion (mouse) CTD Direct Evidence: marker/mechanism protein:increased expression:smooth muscle cell DNA:transition:5' utr:-403G>A (human) |
CTD RGD |
PMID:8534483 PMID:20092989 PMID:18208670 PMID:20430255 |
RGD:4891430, RGD:2307112, RGD:4891381 |
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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G |
Ccl7 |
chemokine (C-C motif) ligand 7 |
|
ISO IEP |
|
RGD |
PMID:21388664 PMID:19965981 |
RGD:5130983, RGD:5130979 |
NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351
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G |
Ccr1 |
chemokine (C-C motif) receptor 1 |
severity |
IEP IMP |
mRNA:increased expression:lung associated with Respiratory Syncytial Virus Infections |
RGD |
PMID:15654816 PMID:15593301 |
RGD:5688158, RGD:5688159 |
NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
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G |
Ccr2 |
chemokine (C-C motif) receptor 2 |
susceptibility |
ISO ISS IEP |
DNA:SNP:cds:p.V64I (human) OMIM:600807 DNA:haplotype:cds:p.V64I(human) protein:increased expression:lung, dendritic cell (mouse) |
MouseDO RGD |
PMID:17298432 PMID:23454776 PMID:19917684 |
RGD:4145110, RGD:8551842, RGD:8549811 |
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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G |
Ccr3 |
chemokine (C-C motif) receptor 3 |
|
IMP ISS ISO IDA |
OMIM:600807 protein:increased expression:respiratory system fluid/secretion, neutrophil DNA:SNP:exon:51T>C (human) |
MouseDO RGD |
PMID:18699933 PMID:19017998 PMID:17145927 PMID:16978084 PMID:20220260 PMID:19657453 PMID:20134116 More...
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RGD:4145633, RGD:4145632, RGD:1601020, RGD:4145646, RGD:4145638, RGD:4145623, RGD:4145618 |
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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G |
Ccr4 |
chemokine (C-C motif) receptor 4 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:15993846 |
RGD:2306304 |
NCBI chr 9:114,319,384...114,334,544
Ensembl chr 9:114,319,384...114,333,984
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G |
Ccr5 |
chemokine (C-C motif) receptor 5 |
no_association |
IMP ISS ISO IEP |
OMIM:600807 DNA:polymorphism, frameshift mutation: :-59029G>A, p.S185_T195del (rs333) (human) mRNA:increased expression:lung (mouse) protein:decreased expression:blood, lymphocyte (human) DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) |
MouseDO RGD |
PMID:16474097 PMID:23454776 PMID:18094012 PMID:15256090 PMID:20220260 |
RGD:4892093, RGD:8551842, RGD:4892088, RGD:4892108, RGD:4145638 |
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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G |
Ccr6 |
chemokine (C-C motif) receptor 6 |
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IEP |
protein:increased expression:lung, dendritic cell (mouse) |
RGD |
PMID:19917684 |
RGD:8549811 |
NCBI chr17:8,454,875...8,477,353
Ensembl chr17:8,454,875...8,475,973
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G |
Ccr7 |
chemokine (C-C motif) receptor 7 |
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IEP |
protein:increased expression:lung, dendritic cell (mouse) |
RGD |
PMID:19917684 |
RGD:8549811 |
NCBI chr11:99,035,025...99,045,903
Ensembl chr11:99,035,022...99,045,903
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G |
Ccr8 |
chemokine (C-C motif) receptor 8 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:15993846 |
RGD:2306304 |
NCBI chr 9:119,921,199...119,923,972
Ensembl chr 9:119,921,180...119,923,972
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G |
Ccr9 |
chemokine (C-C motif) receptor 9 |
|
ISO |
mRNA, protein:increased expression:blood, mature NK T cell |
RGD |
PMID:16210593 |
RGD:5130925 |
NCBI chr 9:123,596,276...123,612,522
Ensembl chr 9:123,507,504...123,613,395
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G |
Cd14 |
CD14 antigen |
severity no_association susceptibility |
ISO |
DNA:polymorphism:promoter:c. -260C>T (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:c. -159C>T (human) DNA:SNPs: : protein:increased expression:serum|DNA:polymorphism:promoter:c. -159C>T (human) |
CTD RGD |
PMID:17607003 PMID:15940135 PMID:15741437 PMID:19096003 PMID:18312481 PMID:16387800 More...
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RGD:4144814, RGD:4144815, RGD:4144228, RGD:4144208, RGD:4144813 |
NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851
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G |
Cd1d1 |
CD1d1 antigen |
susceptibility |
IMP |
associated with fasciolopsiasis |
RGD |
PMID:20304473 |
RGD:4140417 |
NCBI chr 3:86,903,141...86,919,665
Ensembl chr 3:86,903,141...86,906,748
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G |
Cd209a |
CD209a antigen |
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ISO |
|
RGD |
PMID:21471959 |
RGD:5131188 |
NCBI chr 8:3,793,395...3,798,984
Ensembl chr 8:3,793,397...3,798,984
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G |
Cd274 |
CD274 antigen |
treatment |
IMP |
associated with Chlamydia pneumonia |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
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G |
Cd28 |
CD28 antigen |
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ISO |
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RGD |
PMID:21356099 |
RGD:5131612 |
NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
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G |
Cd40 |
CD40 antigen |
treatment |
ISO ISS IEP |
OMIM:600807 |
MouseDO RGD |
PMID:19220210 PMID:20205594 PMID:19159017 PMID:20941750 |
RGD:5132272, RGD:8547792, RGD:4144188, RGD:4892277 |
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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G |
Cd40lg |
CD40 ligand |
severity |
IMP |
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RGD |
PMID:9502776 |
RGD:11352238 |
NCBI chr X:56,257,503...56,269,402
Ensembl chr X:56,257,503...56,269,402
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G |
Cd80 |
CD80 antigen |
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IEP |
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RGD |
PMID:21051864 PMID:21440530 PMID:21352203 |
RGD:5132621, RGD:5132619, RGD:5132620 |
NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697
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G |
Cd86 |
CD86 antigen |
treatment |
IEP ISS IMP ISO |
protein:increased expression:lung, alveolar macrophage (mouse) OMIM:600807 protein:increased expression:blood, B cell (human) protein:increased expression:lung, dendritic cell (rat) DNA:snp:exon:p.I179V rs2681417 (human) |
MouseDO RGD |
PMID:20941750 PMID:25344652 PMID:9449507 PMID:20668438 PMID:9551945 PMID:17513529 More...
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RGD:4892277, RGD:11354965, RGD:4892555, RGD:4892199, RGD:4892202, RGD:4892280 |
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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G |
Cdh1 |
cadherin 1 |
|
ISO ISS |
OMIM:600807 |
MouseDO RGD |
PMID:21540309 |
RGD:5132878 |
NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878
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G |
Cdhr3 |
cadherin-related family member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24241537 |
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NCBI chr12:33,083,781...33,142,900
Ensembl chr12:33,083,795...33,142,874
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G |
Cftr |
cystic fibrosis transmembrane conductance regulator |
susceptibility |
ISO ISS |
DNA:deletion: :p.F508del(human) OMIM:600807 |
MouseDO RGD |
PMID:20298391 |
RGD:4140387 |
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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G |
Chat |
choline acetyltransferase |
|
ISO |
Protein:decreased expression:lung epithelium |
RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr14:32,130,160...32,187,866
Ensembl chr14:32,130,160...32,187,946
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G |
Chia1 |
chitinase, acidic 1 |
no_association |
ISO ISS IMP IEP |
DNA:snps:5' utr, cds:multiple (human) OMIM:600807 DNA:snps:multiple (human) mRNA:increased expression:lung, epithelial cell (human) mRNA:increased expression:lung (mouse) |
MouseDO RGD |
PMID:16179638 PMID:20226308 PMID:19548841 PMID:15192232 PMID:14734765 |
RGD:4996473, RGD:5024922, RGD:5024921, RGD:4985150, RGD:4990463 |
NCBI chr 3:106,020,698...106,039,434
Ensembl chr 3:106,020,545...106,039,436
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G |
Chil1 |
chitinase-like 1 |
susceptibility |
ISO |
human gene in mouse model CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 7 DNA:snp:5' utr:g.-131C>G rs4950928 (human) protein:increased secretion:serum (human) |
CTD OMIM ClinVar RGD |
PMID:18403759 PMID:19414556 PMID:19568425 PMID:18003958 |
RGD:4892663, RGD:4892630, RGD:4892632 |
NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919
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G |
Chml |
choroideremia-like |
|
ISO ISS |
OMIM:600807 |
MouseDO RGD |
PMID:18343558 |
RGD:5133238 |
NCBI chr 1:175,509,803...175,515,919
Ensembl chr 1:175,509,803...175,520,467
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G |
Chrm1 |
cholinergic receptor, muscarinic 1, CNS |
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ISO ISS |
OMIM:600807 |
MouseDO RGD |
PMID:16931638 |
RGD:5133416 |
NCBI chr19:8,641,369...8,660,970
Ensembl chr19:8,641,153...8,660,951
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G |
Chrm2 |
cholinergic receptor, muscarinic 2, cardiac |
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ISO ISS |
DNA:SNP: :rs6962027 (human) OMIM:600807 |
MouseDO RGD |
PMID:19308904 |
RGD:5509586 |
NCBI chr 6:36,364,928...36,505,573
Ensembl chr 6:36,365,019...36,505,349
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G |
Chrm3 |
cholinergic receptor, muscarinic 3, cardiac |
severity |
ISO IMP |
|
RGD |
PMID:20394512 PMID:18348887 |
RGD:5133437, RGD:5133438 |
NCBI chr13:9,925,522...10,411,131
Ensembl chr13:9,925,522...10,410,883
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G |
Chuk |
conserved helix-loop-helix ubiquitous kinase |
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IMP |
|
RGD |
PMID:21496385 |
RGD:5133703 |
NCBI chr19:44,061,773...44,095,940
Ensembl chr19:44,061,774...44,095,919
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G |
Clca1 |
chloride channel accessory 1 |
susceptibility |
IMP ISS ISO |
OMIM:600807 DNA:SNPs (human) |
MouseDO RGD |
PMID:11296262 PMID:17898169 PMID:15318163 |
RGD:4145661, RGD:4145653, RGD:4145656 |
NCBI chr 3:144,710,298...144,738,537
Ensembl chr 3:144,709,578...144,738,537
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G |
Cldn18 |
claudin 18 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27215490 |
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NCBI chr 9:99,572,849...99,599,320
Ensembl chr 9:99,571,514...99,599,320
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G |
Cma1 |
chymase 1, mast cell |
severity susceptibility no_association |
ISO ISS |
protein:increased expression:lung epithelium, mast cell (human) OMIM:600807 DNA:duplications:3' utr:g.*254-?dupTG, dupGA (human) DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) |
MouseDO RGD |
PMID:20813890 PMID:15924217 PMID:15248847 |
RGD:5128804, RGD:1625396, RGD:1625397 |
NCBI chr14:56,178,908...56,182,132
Ensembl chr14:56,178,908...56,182,132
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G |
Crhr1 |
corticotropin releasing hormone receptor 1 |
|
ISO ISS |
DNA:SNP: :RS242941 (human) OMIM:600807 DNA:SNPs: :rs1876828, rs242939, rs242941 (human) |
MouseDO RGD |
PMID:19663668 PMID:16113459 |
RGD:5147485, RGD:5147488 |
NCBI chr11:104,021,289...104,066,349
Ensembl chr11:104,023,681...104,066,349
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G |
Crhr2 |
corticotropin releasing hormone receptor 2 |
|
ISO ISS |
DNA:SNPs: :multiple (human) OMIM:600807 |
MouseDO RGD |
PMID:18408560 |
RGD:5130938 |
NCBI chr 6:55,067,033...55,110,001
Ensembl chr 6:55,067,034...55,110,001
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G |
Crp |
C-reactive protein, pentraxin-related |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21140796 |
RGD:5131288 |
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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G |
Csf2 |
colony stimulating factor 2 (granulocyte-macrophage) |
severity |
IEP IMP ISO |
protein:increased expression:lung protein:increased expression:sputum |
RGD |
PMID:20405019 PMID:9717963 PMID:19213775 |
RGD:5131473, RGD:10449521, RGD:5131476 |
NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493
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G |
Csf2rb |
colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) |
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ISO |
|
RGD |
PMID:17145927 |
RGD:1601020 |
NCBI chr15:78,210,000...78,235,201
Ensembl chr15:78,209,952...78,238,047
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G |
Csf2rb2 |
colony stimulating factor 2 receptor, beta 2, low-affinity (granulocyte-macrophage) |
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ISO |
|
RGD |
PMID:17145927 |
RGD:1601020 |
NCBI chr15:78,166,707...78,189,921
Ensembl chr15:78,166,707...78,189,921
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G |
Csf3 |
colony stimulating factor 3 (granulocyte) |
|
IEP ISS ISO |
protein:increased expression:lung OMIM:600807 |
MouseDO RGD |
PMID:20405019 PMID:21396376 |
RGD:5131473, RGD:5133731 |
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
severity treatment no_association |
ISO IDA IMP IEP |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple (human) DNA:SNP: :rs3087243 (human) DNA:polymorphism:promoter:-318C>T (human) DNA:SNPs:promoter, exon:-1147C>T, -318C>T, 49A>G (human) DNA:polymorphisms:promoter, exon:-318C>T 49A>G (human) |
CTD RGD |
PMID:28807506 PMID:15871446 PMID:11726402 PMID:15316504 PMID:19895365 PMID:18699801 PMID:12956753 PMID:12114354 PMID:17237396 PMID:16926542 PMID:16677453 PMID:16708626 PMID:17469155 More...
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RGD:4891529, RGD:11344922, RGD:4891519, RGD:4891526, RGD:4891510, RGD:4891521, RGD:4891522, RGD:4891514, RGD:4891528, RGD:4891517, RGD:4891516, RGD:4891527 |
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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G |
Ctnna3 |
catenin (cadherin associated protein), alpha 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19187332 |
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NCBI chr10:63,265,877...64,841,174
Ensembl chr10:63,265,877...64,839,446
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G |
Cx3cl1 |
chemokine (C-X3-C motif) ligand 1 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:14657873 |
RGD:4891906 |
NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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G |
Cx3cr1 |
chemokine (C-X3-C motif) receptor 1 |
no_association |
IMP ISS ISO |
OMIM:600807 DNA:SNPs: :p.V249I, rs2669849 (human) DNA:polymorphisms: :p.V249I, p.T280M (human) |
MouseDO RGD |
PMID:21037587 PMID:17082760 PMID:17505143 |
RGD:4891882, RGD:4891895, RGD:4891904 |
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,730,682...119,898,945
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G |
Cxcl1 |
chemokine (C-X-C motif) ligand 1 |
severity |
ISO |
|
RGD |
PMID:20371397 |
RGD:5134983 |
NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
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G |
Cxcl10 |
chemokine (C-X-C motif) ligand 10 |
|
ISO IMP |
protein:decreased expression:plasma |
RGD |
PMID:17302903 PMID:16602032 PMID:11994485 |
RGD:5135439, RGD:5135457, RGD:5135452 |
NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748
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G |
Cxcl14 |
chemokine (C-X-C motif) ligand 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21150878 |
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NCBI chr13:56,436,456...56,444,624
Ensembl chr13:56,436,456...56,444,364
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G |
Cxcl2 |
chemokine (C-X-C motif) ligand 2 |
|
IEP |
mRNA:increased expression:lung |
RGD |
PMID:20045013 |
RGD:5129686 |
NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797
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G |
Cxcl3 |
chemokine (C-X-C motif) ligand 3 |
severity |
ISO |
|
RGD |
PMID:20371397 |
RGD:5134983 |
NCBI chr 5:90,933,960...90,935,952
Ensembl chr 5:90,933,962...90,937,459
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G |
Cxcl5 |
chemokine (C-X-C motif) ligand 5 |
|
ISO IEP |
mRNA:increased expression:bronchus epithelium |
RGD |
PMID:17234659 PMID:9620668 |
RGD:5135243, RGD:5135265 |
NCBI chr 5:90,907,157...90,909,484
Ensembl chr 5:90,907,219...90,909,483
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G |
Cxcl9 |
chemokine (C-X-C motif) ligand 9 |
|
IMP |
|
RGD |
PMID:15210824 |
RGD:5135447 |
NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938
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G |
Cxcr3 |
chemokine (C-X-C motif) receptor 3 |
susceptibility severity |
IEP ISS ISO |
OMIM:600807 DNA:SNP:intron:IVS1+234G>A (human) protein:decreased expression:respiratory system fluid/secretion, T cell |
MouseDO RGD |
PMID:18094012 PMID:16043121 PMID:16548899 PMID:17641057 |
RGD:4892088, RGD:5143934, RGD:5143932, RGD:5135484 |
NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
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G |
Cyba |
cytochrome b-245, alpha polypeptide |
susceptibility |
ISO ISS |
DNA:polymorphism: :-930A>G (human) OMIM:600807 DNA:SNPs: :-930A>G, 242C>T, 640A>G (human) |
MouseDO RGD |
PMID:19459419 PMID:18716406 |
RGD:4311041, RGD:4772770 |
NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
IEP |
mRNA, protein:increased expression, decreased activity:lung |
RGD |
PMID:12415424 |
RGD:4892074 |
NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
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|
G |
Cyp2d22 |
cytochrome P450, family 2, subfamily d, polypeptide 22 |
|
ISS |
OMIM:600807 |
MouseDO |
|
|
NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461
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|
G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
ISO IEP |
mRNA:decreased expression:leukocyte CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:28807506 PMID:20514434 PMID:17081494 |
RGD:4892076, RGD:4892220 |
NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900
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G |
Cysltr1 |
cysteinyl leukotriene receptor 1 |
no_association severity |
ISO ISS IMP |
DNA:SNPs:promoter, exon:multiple (human) OMIM:600807 DNA:SNPs:promoter:-634C>T, -475A>C, -336A>G (human) DNA:SNP: :927T>C (human) mRNA, protein:increased expression:respiratory system mucosa |
MouseDO RGD |
PMID:16771777 PMID:16630147 PMID:16776674 PMID:8087328 PMID:11591188 PMID:17153879 PMID:17689528 PMID:16387808 PMID:16123393 More...
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RGD:4889116, RGD:4784257, RGD:4782072, RGD:4888514, RGD:4848936, RGD:4781742, RGD:4781449, RGD:4843543, RGD:4847129 |
NCBI chr X:105,617,952...105,647,329
Ensembl chr X:105,617,952...105,647,285
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G |
Cysltr2 |
cysteinyl leukotriene receptor 2 |
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ISO ISS |
DNA:polymorphism: :601A>G (human) OMIM:600807 DNA:polymorphism: :-1220A>C (human) |
MouseDO RGD |
PMID:15475736 PMID:15454733 |
RGD:5144002, RGD:5144003 |
NCBI chr14:73,263,515...73,286,554
Ensembl chr14:73,263,043...73,286,554
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G |
Dcn |
decorin |
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ISO |
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RGD |
PMID:16387756 |
RGD:2311423 |
NCBI chr10:97,315,362...97,354,025
Ensembl chr10:97,315,471...97,354,005
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G |
Defb1 |
defensin beta 1 |
susceptibility |
ISO ISS |
DNA:SNP: :-1816 T>C (human) OMIM:600807 DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human) |
MouseDO RGD |
PMID:15696078 PMID:16435024 |
RGD:4892263, RGD:4892254 |
NCBI chr 8:22,266,571...22,285,201
Ensembl chr 8:22,266,615...22,285,201
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G |
Dnah5 |
dynein, axonemal, heavy chain 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
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NCBI chr15:28,155,000...28,472,191
Ensembl chr15:28,203,898...28,472,198
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G |
Dnmt1 |
DNA methyltransferase (cytosine-5) 1 |
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IEP ISO |
DNA,mRNA:hypermethylation,decreased expression:promoter,respiratory tract: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23423710 PMID:23196709 |
RGD:9588646 |
NCBI chr 9:20,818,501...20,871,184
Ensembl chr 9:20,818,505...20,871,184
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G |
Dpp10 |
dipeptidylpeptidase 10 |
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ISO ISS |
DNA:SNPs (human) OMIM:600807 DNA:SNP:exon (human) protein:increased expression:bronchus DNA:SNP: :rs10208402 (human) |
MouseDO RGD |
PMID:21103062 PMID:15118671 PMID:14566338 PMID:17967935 PMID:19672052 |
RGD:4889866, RGD:1331525, RGD:4892276, RGD:4892278, RGD:4892275 |
NCBI chr 1:123,259,867...124,773,809
Ensembl chr 1:123,249,200...124,773,776
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G |
Ear1 |
eosinophil-associated, ribonuclease A family, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8874658 PMID:12153692 PMID:12587966 |
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NCBI chr14:44,056,222...44,057,096
Ensembl chr14:44,056,222...44,112,974
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G |
Ebi3 |
Epstein-Barr virus induced gene 3 |
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IMP |
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RGD |
PMID:21255010 |
RGD:5128488 |
NCBI chr17:56,259,623...56,264,022
Ensembl chr17:56,259,640...56,264,022
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G |
Edn1 |
endothelin 1 |
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ISO |
DNA:transition:intron:g.4124T>C (human) CTD Direct Evidence: marker/mechanism Severe Persistent Allergic Asthma; protein:increased secretion:lung (human) |
CTD RGD |
PMID:16981460 PMID:11668616 PMID:20588001 |
RGD:4144869, RGD:4144895 |
NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
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G |
Ednra |
endothelin receptor type A |
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IMP |
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RGD |
PMID:18632188 PMID:17448648 |
RGD:4892288, RGD:4892322 |
NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093
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G |
Ednrb |
endothelin receptor type B |
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IMP ISS ISO |
OMIM:600807 DNA:polymorphism (human) mRNA:increased expression:bronchus, smooth muscle cell |
MouseDO RGD |
PMID:18632188 PMID:17470272 PMID:15245576 |
RGD:4892288, RGD:4892321, RGD:4892324 |
NCBI chr14:104,052,051...104,083,248
Ensembl chr14:104,052,061...104,081,838
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Egfr |
epidermal growth factor receptor |
severity |
IMP ISO IEP |
protein:increased expression:bronchial epithelium (human) protein:increased expression:lung epithelium (mouse) protein:increased expression:lung epithelium (rat) |
RGD |
PMID:21224214 PMID:12580917 PMID:21072743 PMID:19954006 |
RGD:5131633, RGD:5131468, RGD:5131642, RGD:5131870 |
NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
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Egr1 |
early growth response 1 |
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IMP ISS ISO |
OMIM:600807 mRNA:increased expression:bronchoalveolar lavage cell (human) DNA:snp:5' utr:g.-4071A>G rs7729723 (human) |
MouseDO RGD |
PMID:11254538 PMID:18774390 PMID:18507785 |
RGD:5131985, RGD:5130915, RGD:5131993 |
NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037
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G |
Elp1 |
elongator complex protein 1 |
no_association |
ISO ISS |
OMIM:600807 |
MouseDO RGD |
PMID:11281413 PMID:12774215 |
RGD:5129157, RGD:5129158 |
NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331
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G |
Ephx1 |
epoxide hydrolase 1, microsomal |
susceptibility |
ISO ISS |
DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) OMIM:600807 |
MouseDO RGD |
PMID:17711870 |
RGD:4889407 |
NCBI chr 1:180,817,121...180,845,134
Ensembl chr 1:180,803,775...180,848,469
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G |
Epx |
eosinophil peroxidase |
severity disease_progression |
ISO |
protein:increased activity:sputum,nasal,pharyngeal mucosa |
RGD |
PMID:26645423 PMID:12199967 PMID:20813885 |
RGD:11574908, RGD:13506892, RGD:13506891 |
NCBI chr11:87,754,824...87,766,362
Ensembl chr11:87,754,826...87,766,362
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G |
Esr2 |
estrogen receptor 2 (beta) |
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ISO |
mRNA:decreased expression:lung (rat) |
RGD |
PMID:18375789 |
RGD:8694127 |
NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
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G |
F2 |
coagulation factor II |
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ISO |
protein:increased expression:plasma associated with Rhinosinusitis, associated with Nasal Polyps;protein:increased expression:nasal mucus |
RGD |
PMID:21658190 PMID:21711961 |
RGD:5147753, RGD:5147783 |
NCBI chr 2:91,442,742...91,466,802
Ensembl chr 2:91,455,665...91,466,759
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G |
F2rl1 |
coagulation factor II (thrombin) receptor-like 1 |
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ISO ISS |
OMIM:600807 |
MouseDO RGD |
PMID:19864598 |
RGD:4892589 |
NCBI chr13:95,648,226...95,661,748
Ensembl chr13:95,648,240...95,661,735
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F7 |
coagulation factor VII |
treatment |
ISO |
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RGD |
PMID:24523826 |
RGD:11040539 |
NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809
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G |
Fas |
Fas (TNF receptor superfamily member 6) |
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ISO |
mRNA:increased expression:eosinophil |
RGD |
PMID:16337971 |
RGD:1600350 |
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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G |
Fcer1a |
Fc receptor, IgE, high affinity I, alpha polypeptide |
severity |
ISO |
Asthma symptoms persistent despite steroids in humans Fatal asthma subjects |
RGD |
PMID:20937062 PMID:21388666 |
RGD:5128717, RGD:5128711 |
NCBI chr 1:173,048,836...173,054,799
Ensembl chr 1:173,048,851...173,054,781
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G |
Fcgr2b |
Fc receptor, IgG, low affinity IIb |
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IMP |
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RGD |
PMID:20179765 |
RGD:11344929 |
NCBI chr 1:170,788,127...170,803,691
Ensembl chr 1:170,786,186...170,804,116
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G |
Fcgr4 |
Fc receptor, IgG, low affinity IV |
susceptibility |
ISO ISS |
DNA:polymorphism:exon:p.F158V(rs396991)(human) OMIM:600807 |
MouseDO RGD |
PMID:18199088 |
RGD:5508449 |
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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G |
Fga |
fibrinogen alpha chain |
treatment |
ISO |
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RGD |
PMID:24523826 |
RGD:11040539 |
NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934
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G |
Fkbp5 |
FK506 binding protein 5 |
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ISO |
ClinVar Annotator: match by term: Asthma |
ClinVar |
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NCBI chr17:28,617,727...28,705,123
Ensembl chr17:28,618,068...28,736,501
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G |
Foxp3 |
forkhead box P3 |
treatment |
ISO IDA |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27965764 PMID:29317916 PMID:28944907 PMID:27633092 |
RGD:38549365, RGD:38548920 |
NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484
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G |
Gata3 |
GATA binding protein 3 |
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ISO |
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RGD |
PMID:9949310 PMID:18186587 |
RGD:5128802, RGD:5128803 |
NCBI chr 2:9,861,889...9,892,762
Ensembl chr 2:9,861,889...9,894,845
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G |
Gc |
vitamin D binding protein |
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IMP ISO |
protein, mRNA:increased expression:bronchoalveolar lavage fluid: |
RGD |
PMID:21169467 PMID:21169467 |
RGD:5509920, RGD:5509920 |
NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757
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G |
Gsta1 |
glutathione S-transferase, alpha 1 (Ya) |
susceptibility |
ISO |
DNA:polymorphism:promoter: -69C>T (human) |
RGD |
PMID:20374258 |
RGD:5490988 |
NCBI chr 9:78,137,951...78,149,965
Ensembl chr 9:78,137,938...78,149,966
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G |
Gstm1 |
glutathione S-transferase, mu 1 |
resistance susceptibility |
ISO |
DNA:deletion: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16870661 PMID:18988661 PMID:17651144 PMID:21051083 PMID:11075422 |
RGD:4142509, RGD:5490962, RGD:4140921 |
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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G |
Gstm3 |
glutathione S-transferase, mu 3 |
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ISO |
DNA:polymorphism |
RGD |
PMID:11470996 PMID:17550934 |
RGD:5135039, RGD:5135038 |
NCBI chr 3:107,871,012...107,876,490
Ensembl chr 3:107,871,012...107,876,599
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G |
Gstm5 |
glutathione S-transferase, mu 5 |
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ISS |
OMIM:600807 |
MouseDO |
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NCBI chr 3:107,803,170...107,806,001
Ensembl chr 3:107,803,137...107,806,002
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G |
Gsto2 |
glutathione S-transferase omega 2 |
susceptibility |
ISO ISS |
DNA:polymorphism:exon:p. N142D (human) OMIM:600807 |
MouseDO RGD |
PMID:20374258 |
RGD:5490988 |
NCBI chr19:47,853,879...47,874,747
Ensembl chr19:47,853,973...47,874,763
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G |
Gstp1 |
glutathione S-transferase, pi 1 |
severity susceptibility disease_progression no_association |
ISO IAGP |
DNA:polymorphism:exon:p.I105V (rs1695) (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:exons:p.I105V (rs1695), A114V (rs1138272) (human) DNA:SNPs:intron,exon:(rs749174), (rs1138272)(human) DNA:SNPs: :p.I105V, p.A114V (human) DNA:polymorphism:exon:p.I105V (human) DNA:SNP: :p.A114V (human) |
CTD RGD |
PMID:11994713 PMID:16870661 PMID:18988661 PMID:24117884 PMID:29411558 PMID:10806136 PMID:15693909 PMID:20210814 PMID:20858151 PMID:18057098 PMID:16176403 PMID:18709160 PMID:18787219 More...
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RGD:4142526, RGD:5490999, RGD:5490991, RGD:5490985, RGD:4140951, RGD:4142519, RGD:4140947, RGD:4140946 |
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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G |
Gstt1 |
glutathione S-transferase, theta 1 |
susceptibility |
ISO ISS |
OMIM:600807 DNA:deletion: : |
MouseDO RGD |
PMID:15300848 PMID:21051083 PMID:11075422 |
RGD:4142539, RGD:5490962, RGD:4140921 |
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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G |
H2-Aa |
histocompatibility 2, class II antigen A, alpha |
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ISO |
DNA:polymorphisms (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism (human) |
CTD RGD |
PMID:10792356 PMID:12890388 PMID:10051703 PMID:11802952 PMID:19052351 |
RGD:5147799, RGD:1331670, RGD:5147831, RGD:5147617 |
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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G |
H2-Ab1 |
histocompatibility 2, class II antigen A, beta 1 |
susceptibility disease_progression no_association |
ISO |
Alternaria sensitive asthma DNA:polymorphisms: : CTD Direct Evidence: marker/mechanism DNA:polymorphisms (human) |
CTD RGD |
PMID:10792356 PMID:20298583 PMID:20159242 PMID:20214848 PMID:23331206 PMID:11802952 PMID:12890388 PMID:19052351 More...
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RGD:4144113, RGD:13506913, RGD:4144181, RGD:13506906, RGD:5147831, RGD:5147799, RGD:5147617 |
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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G |
H2-Ea |
histocompatibility 2, class II antigen E alpha |
susceptibility |
ISO ISS |
DNA:polymorphisms: : OMIM:600807 |
MouseDO RGD |
PMID:20159242 |
RGD:13506913 |
NCBI chr17:34,560,926...34,563,619
Ensembl chr17:34,561,907...34,563,618
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G |
H2-Eb1 |
histocompatibility 2, class II antigen E beta |
susceptibility no_association severity |
ISO |
DNA:polymorphisms: : CTD Direct Evidence: marker/mechanism DNA:polymorphism (human) |
CTD RGD |
PMID:16792590 PMID:19528258 PMID:20159242 PMID:23331206 PMID:10051703 PMID:19439981 PMID:20486920 PMID:20214848 More...
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RGD:4144196, RGD:13506913, RGD:13506906, RGD:1331670, RGD:5147663, RGD:5147607, RGD:4144181 |
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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G |
H2-M2 |
histocompatibility 2, M region locus 2 |
susceptibility |
ISO ISS |
DNA:polymorphism: OMIM:600807 |
MouseDO RGD |
PMID:28380482 |
RGD:13506910 |
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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G |
H2-M3 |
histocompatibility 2, M region locus 3 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD OMIM RGD |
PMID:15611928 |
RGD:5144118 |
NCBI chr17:37,581,094...37,585,376
Ensembl chr17:37,581,111...37,585,375
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G |
H2-Pa |
histocompatibility 2, P region alpha locus |
susceptibility |
ISO ISS |
DNA:polymorphism: : OMIM:600807 |
MouseDO RGD |
PMID:21814517 |
RGD:13506911 |
NCBI chr17:34,303,587...34,304,826
Ensembl chr17:34,303,575...34,304,797
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
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ISO |
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RGD |
PMID:20628202 |
RGD:5128851 |
NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405
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G |
Havcr2 |
hepatitis A virus cellular receptor 2 |
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IMP |
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RGD |
PMID:17517968 |
RGD:5135525 |
NCBI chr11:46,345,758...46,372,082
Ensembl chr11:46,345,762...46,372,082
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G |
Hc |
hemolytic complement |
severity |
IEP ISS ISO IAGP |
mRNA:decreased expression:lung OMIM:600807 |
MouseDO RGD |
PMID:10973279 PMID:15278436 PMID:20143644 PMID:11591795 PMID:20802484 |
RGD:5130158, RGD:5129512, RGD:5129706, RGD:1600651, RGD:5129681 |
NCBI chr 2:34,873,341...34,958,518
Ensembl chr 2:34,873,343...34,951,450
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G |
Hdac2 |
histone deacetylase 2 |
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ISO |
mRNA:decreased expression:macrophage: |
RGD |
PMID:20538962 |
RGD:9590321 |
NCBI chr10:36,850,293...36,877,885
Ensembl chr10:36,850,540...36,877,885
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G |
Hdc |
histidine decarboxylase |
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ISO ISS |
associated with Rhinitis;DNA:SNP: :p.E644D (rs2073440) (human) OMIM:600807 |
MouseDO RGD |
PMID:20608921 |
RGD:5128884 |
NCBI chr 2:126,435,579...126,465,942
Ensembl chr 2:126,435,587...126,461,219
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G |
Hif1a |
hypoxia inducible factor 1, alpha subunit |
treatment |
IEP |
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RGD |
PMID:18160846 |
RGD:10402541 |
NCBI chr12:73,948,098...73,994,328
Ensembl chr12:73,948,149...73,994,304
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-Coenzyme A reductase |
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ISO ISS |
OMIM:600807 |
MouseDO RGD |
PMID:20084838 |
RGD:5508450 |
NCBI chr13:96,785,470...96,807,444
Ensembl chr13:96,785,475...96,807,444
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G |
Hmox1 |
heme oxygenase 1 |
severity |
IDA ISO |
CTD Direct Evidence: marker/mechanism mRNA;protein:increased expression:Leukocytes, Mononuclear |
CTD RGD |
PMID:18048809 PMID:20596599 PMID:16196283 |
RGD:4145403, RGD:4145408 |
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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G |
Hnmt |
histamine N-methyltransferase |
no_association susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD RGD |
PMID:10752634 PMID:10803682 PMID:16205835 PMID:17651147 PMID:15693910 PMID:21040557 PMID:17651147 PMID:10803682 PMID:16205835 More...
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RGD:5128888, RGD:5128883, RGD:5128885, RGD:5128881, RGD:5128887 |
NCBI chr 2:23,892,923...23,939,756
Ensembl chr 2:23,892,922...23,939,406
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G |
Hp |
haptoglobin |
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ISO |
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RGD |
PMID:21471098 PMID:21169467 |
RGD:5144151, RGD:5509920 |
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
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G |
Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11932298 |
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NCBI chr 8:106,245,378...106,250,620
Ensembl chr 8:106,245,387...106,250,620
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G |
Htr2a |
5-hydroxytryptamine (serotonin) receptor 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25322896 |
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NCBI chr14:74,878,314...74,944,299
Ensembl chr14:74,878,280...74,946,934
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G |
Icam1 |
intercellular adhesion molecule 1 |
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ISO IEP |
protein:increased expression:lung, serum (rat) CTD Direct Evidence: marker/mechanism mRNA:increased expression:aorta (mouse) protein:increased secretion:lung (human) |
CTD RGD |
PMID:17014439 PMID:25003170 PMID:20953388 PMID:20400685 PMID:20205697 |
RGD:4145331, RGD:4145444, RGD:4145509 |
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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G |
Ifng |
interferon gamma |
treatment resistance |
IDA IMP ISO |
protein:increased expression:sputum |
RGD GAD |
PMID:19542437 PMID:12396623 PMID:15118671 PMID:20953328 PMID:20817868 |
RGD:5128479, RGD:10755706, RGD:1331525, RGD:4145525, RGD:4145651 |
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Ifngr1 |
interferon gamma receptor 1 |
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IAGP ISS ISO |
OMIM:600807 DNA: SNP: Leu467Pro |
MouseDO RGD |
PMID:21737883 PMID:12851715 |
RGD:6480255, RGD:6480431 |
NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977
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Ifnl2 |
interferon lambda 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22295096 |
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NCBI chr 7:28,208,209...28,209,957
Ensembl chr 7:28,208,261...28,209,880
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Ikzf3 |
IKAROS family zinc finger 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25256354 |
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NCBI chr11:98,355,436...98,437,157
Ensembl chr11:98,355,728...98,436,857
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Il10 |
interleukin 10 |
treatment susceptibility |
ISO IMP IEP |
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :-627C>A (human) protein:decreased expression:plasma |
CTD RGD |
PMID:29317916 PMID:20560982 PMID:21998459 PMID:20237464 PMID:20644177 PMID:12938145 PMID:20121766 PMID:20230687 More...
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RGD:5131623, RGD:11046261, RGD:4140471, RGD:4140459, RGD:4143221, RGD:4140451, RGD:4140421 |
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il12a |
interleukin 12a |
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IMP |
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RGD |
PMID:17056578 PMID:17548618 |
RGD:4438438, RGD:4373570 |
NCBI chr 3:68,597,977...68,605,883
Ensembl chr 3:68,597,977...68,605,880
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Il12b |
interleukin 12b |
severity susceptibility |
ISO ISS |
DNA:polymorphisms:introns: OMIM:600807 ClinVar Annotator: match by term: Asthma, susceptibility to DNA:polymorphisms:promoter, 3'utr: DNA:polymorphism:promoter |
MouseDO ClinVar RGD |
PMID:15322986 PMID:15322986 PMID:16210052 PMID:12241719 |
RGD:1600043, RGD:4145438, RGD:4145428 |
NCBI chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860
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Il13 |
interleukin 13 |
susceptibility severity no_association |
IMP ISO IDA IEP |
ClinVar Annotator: match by term: Asthma, susceptibility to CTD Direct Evidence: marker/mechanism associated with Dermatitis, Atopic;DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human) DNA:polymorphism: :-1512A>C, -1112C>T, 2044G>A (human) mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid protein:increased expression:serum DNA:polymorphism:cds:p.R130Q (human) DNA:polymorphisms:promoters,exon4: rs1881457, rs1800925, rs20541 (human) DNA:polymorphism: :p. R110Q (human) DNA:SNP: :c. -646A>G (human) protein:increased expression:sputum DNA:polymorphism: :c. 1923C>T (human) DNA:polymorphism:promoter:c. -1055C>T (human) DNA:polymorphisms: :rs20541, rs1295685(human) DNA:polymorphism:3'utr:c.4738G>A (human) DNA:polymorphism: :c.-1055C>T (human) DNA:polymorphism: :c. 2044G>A (human) |
ClinVar OMIM CTD RGD |
PMID:10699178 PMID:11588017 PMID:11709756 PMID:12847555 PMID:12928861 PMID:15356556 PMID:15483090 PMID:15711639 PMID:15879126 PMID:22867017 PMID:16120094 PMID:23317483 PMID:17006604 PMID:12604708 PMID:12091879 PMID:20819635 PMID:16393274 PMID:18222984 PMID:11758895 PMID:11678850 PMID:19796199 PMID:18258919 PMID:15315330 PMID:17303794 PMID:18328894 PMID:19575932 PMID:16024972 PMID:20484924 PMID:11588017 PMID:20198887 PMID:18341619 More...
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RGD:4206706, RGD:8549509, RGD:4892639, RGD:2301686, RGD:4145664, RGD:4145453, RGD:4145508, RGD:2307110, RGD:4763153, RGD:4763761, RGD:4145601, RGD:4145639, RGD:4321828, RGD:4146241, RGD:4145777, RGD:4145775, RGD:4220633, RGD:4145534, RGD:4765128, RGD:4145593, RGD:4145776 |
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il13ra1 |
interleukin 13 receptor, alpha 1 |
no_association |
IDA ISS ISO IMP IEP |
OMIM:600807 DNA:polymorphism: :1398A>G (human) DNA:polymorphisms:promoter, 3' utr:-281T>G, 1365A>G (human) DNA:polymorphism: :1050C>T (human) mRNA:increased expression:bronchus |
MouseDO RGD |
PMID:11714828 PMID:17006604 PMID:17392323 PMID:10686479 PMID:18480254 PMID:20383033 More...
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RGD:4892654, RGD:4892639, RGD:4892650, RGD:4892655, RGD:4892647, RGD:4892646 |
NCBI chr X:35,375,761...35,434,915
Ensembl chr X:35,375,763...35,434,912
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Il13ra2 |
interleukin 13 receptor, alpha 2 |
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IMP ISO IEP |
protein:increased expression:serum mRNA:increased expression:bronchus |
RGD |
PMID:17885690 PMID:21462799 PMID:20383033 |
RGD:4892649, RGD:8549521, RGD:4892646 |
NCBI chr X:146,166,474...146,214,982
Ensembl chr X:146,166,472...146,212,188
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Il15 |
interleukin 15 |
no_association |
IMP ISS ISO |
OMIM:600807 DNA:SNPs: :multiple (human) |
MouseDO RGD |
PMID:15843549 PMID:16629787 PMID:11160248 PMID:15131572 PMID:19133918 |
RGD:5000757, RGD:4984421, RGD:4990462, RGD:5000758, RGD:5000760 |
NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
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Il16 |
interleukin 16 |
no_association severity |
IMP ISS ISO |
OMIM:600807 DNA:SNP:promoter:-295T>C (human) protein:increased expression:serum associated with Rhinitis;protein:increased expression:respiratory system fluid/secretion |
MouseDO RGD |
PMID:10585533 PMID:15784111 PMID:16387589 PMID:12872394 PMID:16734115 |
RGD:5024937, RGD:5024935, RGD:5024934, RGD:5024930, RGD:5024928 |
NCBI chr 7:83,292,027...83,395,479
Ensembl chr 7:83,292,033...83,394,934
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Il17a |
interleukin 17A |
susceptibility |
ISO ISS IMP |
mRNA,protein:increased expression:Leukocytes, Mononuclear, lung, serum OMIM:600807 protein:increased expression:sputum protein:increased expression:alveolar macrophage DNA:SNP:promoter:rs2275913 (human) |
MouseDO RGD |
PMID:18060619 PMID:20351038 PMID:15730730 PMID:18941201 PMID:20437253 |
RGD:4839043, RGD:4888527, RGD:4889114, RGD:4889152, RGD:4889139 |
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il17rb |
interleukin 17 receptor B |
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IMP |
associated with Picornaviridae Infections |
RGD |
PMID:25273095 |
RGD:39128256 |
NCBI chr14:29,718,125...29,730,853
Ensembl chr14:29,718,092...29,730,853
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Il18 |
interleukin 18 |
severity susceptibility disease_progression |
ISO ISS IMP |
DNA:SNPs:Promoter:c. -607C>A (rs1946518), -137G/C (rs187238) (human) OMIM:600807 DNA:SNP:promoter:c.and -137G>C (rs187238)(human) protein:increased expression:serum DNA:SNP:promoter: c.-380C>G (rs5744247)(human) DNA:polymorphism: :c. -105A>C (human) |
MouseDO RGD |
PMID:17767553 PMID:20497957 PMID:16433859 PMID:18826499 PMID:11174201 PMID:20497957 PMID:19745201 PMID:18200581 More...
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RGD:4889585, RGD:4889898, RGD:4889923, RGD:4889908, RGD:4889863, RGD:4889898, RGD:4889900, RGD:4889910 |
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il18r1 |
interleukin 18 receptor 1 |
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ISO ISS IEP |
OMIM:600807 DNA:SNP: :rs3771166 (human) DNA:SNPs: :multiple (human) |
MouseDO RGD |
PMID:19910030 PMID:20860503 PMID:18382474 PMID:11972614 PMID:18774397 |
RGD:5024945, RGD:5024942, RGD:5024947, RGD:5024948, RGD:5024946 |
NCBI chr 1:40,504,712...40,540,014
Ensembl chr 1:40,504,712...40,540,014
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Il19 |
interleukin 19 |
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IEP |
mRNA, protein:increased expression:lung, serum |
RGD |
PMID:15557163 |
RGD:5037236 |
NCBI chr 1:130,860,393...130,873,194
Ensembl chr 1:130,860,393...130,867,852
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Il1a |
interleukin 1 alpha |
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ISO ISS |
DNA:polymorphisms: : OMIM:600807 |
MouseDO RGD |
PMID:18763028 |
RGD:4142802 |
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Il1b |
interleukin 1 beta |
susceptibility |
IDA ISO |
CTD Direct Evidence: marker/mechanism protein:decreased expression:neutrophil DNA:polymorphism: :-511C>T (human) |
CTD RGD |
PMID:9176529 PMID:19684087 PMID:19842845 PMID:18926055 |
RGD:4142836, RGD:4142830, RGD:4142864 |
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1rl1 |
interleukin 1 receptor-like 1 |
susceptibility severity |
IEP ISO IMP |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism DNA:SNP: :rs1420101 (human) DNA:SNPs:intron:rs1420089, rs1861245,rs1946131 (human) DNA:SNP: :rs10197862 (human) DNA:SNP: :rs1041973 (human) |
CTD RGD |
PMID:19198610 PMID:21150878 PMID:21804549 PMID:24241537 PMID:27472835 PMID:17623648 PMID:17407196 PMID:19179489 PMID:19198610 PMID:19852851 PMID:21150878 PMID:21281963 PMID:11463601 More...
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RGD:5144235, RGD:5144245, RGD:5144244, RGD:5144243, RGD:5144242, RGD:5144240, RGD:5144239, RGD:5144237 |
NCBI chr 1:40,444,025...40,504,578
Ensembl chr 1:40,468,730...40,504,575
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Il1rn |
interleukin 1 receptor antagonist |
susceptibility severity |
ISO |
DNA:SNP: :rs2234678 (human) CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple (human) DNA:SNPs: :rs447713, rs3087271 (human) protein:increased expression:plasma DNA, protein:repeat, decreased expression (human) DNA:polymorphism:intron (human) |
CTD RGD |
PMID:9176529 PMID:17107994 PMID:15020290 PMID:16409203 PMID:16724092 PMID:10843772 PMID:11027520 PMID:18926055 PMID:18763028 More...
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RGD:4143208, RGD:4143216, RGD:4143163, RGD:4143209, RGD:4143225, RGD:4143224, RGD:4142864, RGD:4142802 |
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il2 |
interleukin 2 |
susceptibility |
ISO ISS |
OMIM:600807 DNA:SNP:promoter:rs2069762(human) |
MouseDO RGD |
PMID:20926789 PMID:16333313 |
RGD:4889118, RGD:8663473 |
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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Il21 |
interleukin 21 |
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ISO ISS |
DNA:SNP:exon:5250C>T (human) OMIM:600807 |
MouseDO RGD |
PMID:18802358 |
RGD:5147396 |
NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
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Il22 |
interleukin 22 |
treatment severity |
IMP ISO |
mRNA:increased expression:blood, mononuclear cell protein:increased expression:serum |
RGD |
PMID:21789181 PMID:21998459 PMID:21535180 PMID:21297073 |
RGD:5147401, RGD:11046261, RGD:5147409, RGD:5147403 |
NCBI chr10:118,040,456...118,045,952
Ensembl chr10:118,040,847...118,045,952
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Il22b |
interleukin 22B |
severity |
ISO |
protein:increased expression:serum mRNA:increased expression:blood, mononuclear cell |
RGD |
PMID:21297073 PMID:21535180 |
RGD:5147403 RGD:5147409 |
NCBI chr10:118,125,534...118,130,943
Ensembl chr10:118,125,534...118,130,943
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Il23r |
interleukin 23 receptor |
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IMP |
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RGD |
PMID:19935773 |
RGD:5037240 |
NCBI chr 6:67,399,916...67,468,839
Ensembl chr 6:67,399,916...67,468,839
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Il25 |
interleukin 25 |
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IEP |
mRNA, protein:increased expression:lung |
RGD |
PMID:25273095 |
RGD:39128256 |
NCBI chr14:55,170,152...55,173,294
Ensembl chr14:55,170,152...55,173,294
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Il27 |
interleukin 27 |
treatment susceptibility |
IDA ISS IMP ISO |
OMIM:600807 protein:increased expression:sputum DNA:SNP: :g.-964A>G (human) |
MouseDO RGD |
PMID:17878337 PMID:26595888 PMID:20817868 PMID:17318299 PMID:19542437 |
RGD:5128491, RGD:11076728, RGD:4145651, RGD:5128485, RGD:5128479 |
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Il27ra |
interleukin 27 receptor, alpha |
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IMP |
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RGD |
PMID:16081811 |
RGD:5128496 |
NCBI chr 8:84,756,915...84,769,250
Ensembl chr 8:84,756,923...84,769,218
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Il2ra |
interleukin 2 receptor, alpha chain |
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IMP |
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RGD |
PMID:21377197 PMID:20525707 |
RGD:5147437, RGD:5147445 |
NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004
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Il2rb |
interleukin 2 receptor, beta chain |
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ISO ISS IMP |
DNA:SNP: :rs2284033 (human) OMIM:600807 |
MouseDO RGD |
PMID:20860503 PMID:18641329 |
RGD:5024942, RGD:5147447 |
NCBI chr15:78,363,456...78,396,569
Ensembl chr15:78,363,456...78,379,471
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Il3 |
interleukin 3 |
susceptibility |
ISO ISS |
DNA:SNP: :rs40401(human) OMIM:600807 DNA:polymorphism:cds:+79T>C(S27P)(human) |
MouseDO RGD |
PMID:24684517 PMID:15372320 |
RGD:13506914, RGD:13506916 |
NCBI chr11:54,155,911...54,158,105
Ensembl chr11:54,156,129...54,158,103
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Il33 |
interleukin 33 |
treatment severity |
ISO IMP |
CTD Direct Evidence: marker/mechanism associated with viral pneumonia; associated with fungal infectious disease |
CTD RGD |
PMID:19198610 PMID:21804549 PMID:24241537 PMID:27472835 PMID:29067999 PMID:28947081 PMID:25746970 More...
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RGD:39939002, RGD:39938968 |
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Il4 |
interleukin 4 |
treatment no_association |
IMP ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA, protein:increase expression:leukocyte, serum protein:increased expression:lung DNA:SNP: :589C>T (human) DNA:polymorphism (human) mRNA:increased expression:lung, spleen protein:increased expression:respiratory system fluid/secretion |
CTD RGD |
PMID:18357729 PMID:21375458 PMID:24946644 PMID:24450480 PMID:18211752 PMID:20524005 PMID:21103062 PMID:21364926 PMID:21354484 More...
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RGD:5128557, RGD:10402799, RGD:10402791, RGD:2317290, RGD:5128560, RGD:4889866, RGD:5128500, RGD:5128502 |
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Il4ra |
interleukin 4 receptor, alpha |
susceptibility severity disease_progression |
ISO ISS IEA IMP |
DNA:polymorphism:cds:p.Q551R (human) OMIM:600807 DNA:polymorphism:cds:p.I50V (human) DNA:polymorphism::-1902G/A (human) DNA:SNPs: :multiple DNA:SNPs:cds:p. I75V, Q576R (human) protein:increased secretion:plasma|DNA:polymorphism:promoter:c.-3223C>T (human) DNA:SNPs:cds:p.E375A, Q551R (human) DNA:polymorphism:cds:p.Q576R (human) DNA:polymorphism:cds:p. S478P (human) DNA:mutation:cds:p.Q576R (mouse) |
MouseDO RGD |
PMID:17586032 PMID:18425216 PMID:20868478 PMID:17823973 PMID:11398072 PMID:12133990 PMID:15479272 PMID:17170387 PMID:12940513 PMID:11709756 PMID:20953944 PMID:20605987 PMID:19770271 PMID:16917945 More...
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RGD:4890348, RGD:4890346, RGD:4890387, RGD:4890347, RGD:4890406, RGD:4890404, RGD:4890351, RGD:4890349, RGD:4890402, RGD:4890024, RGD:5128514, RGD:5128553, RGD:4890003, RGD:4890352 |
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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Il5 |
interleukin 5 |
treatment disease_progression |
IEP ISO IMP |
protein:increased expression:respiratory system fluid/secretion CTD Direct Evidence: marker/mechanism protein:increased expression:lungs, respiratory system fluid/secretion protein: increased levels: sputum DNA:polymorphism:promoter:-703C>T (human) |
CTD RGD |
PMID:7540862 PMID:23266719 PMID:15626484 PMID:25008888 PMID:11159041 PMID:22085848 PMID:22186238 PMID:15502111 PMID:9182686 PMID:17074272 PMID:9493449 PMID:18629290 PMID:19947994 More...
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RGD:4890947, RGD:11354973, RGD:5687189, RGD:5687144, RGD:5687140, RGD:4890948, RGD:4890963, RGD:4145461, RGD:4890962, RGD:4890940, RGD:4890938 |
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Il5ra |
interleukin 5 receptor, alpha |
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IMP ISS ISO |
OMIM:600807 DNA:SNP: :c.25091G>A (human) DNA:SNPs (human) |
MouseDO RGD |
PMID:10848907 PMID:20592918 PMID:17276963 PMID:10224351 PMID:16217591 PMID:20513521 More...
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RGD:5128627, RGD:5128614, RGD:5128617, RGD:5128623, RGD:5128626, RGD:5128625 |
NCBI chr 6:106,687,336...106,725,998
Ensembl chr 6:106,687,318...106,725,998
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Il6 |
interleukin 6 |
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IDA ISO |
CTD Direct Evidence: marker/mechanism associated with Hypersensitivity;protein:increased expression:sputum protein:increased expression:lung |
CTD RGD |
PMID:29902480 PMID:21115736 PMID:20840469 PMID:20816188 PMID:20658762 |
RGD:5128630, RGD:4143265, RGD:4143266, RGD:4143271 |
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Il6ra |
interleukin 6 receptor, alpha |
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IMP ISO IDA |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29902480 PMID:17496315 PMID:21115736 |
RGD:5128662, RGD:5128630 |
NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503
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Il9 |
interleukin 9 |
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ISO ISS IMP IEP |
OMIM:600807 protein:increased expression:respiratory system fluid/secretion protein:increased expression:sputum, macrophage, cytoplasm |
MouseDO RGD |
PMID:21356110 PMID:17446528 PMID:15531759 PMID:15303135 PMID:12153980 |
RGD:5128707, RGD:5128686, RGD:5128690, RGD:5128691, RGD:5128700 |
NCBI chr13:56,627,090...56,630,070
Ensembl chr13:56,627,090...56,630,059
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Il9r |
interleukin 9 receptor |
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ISO |
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RGD |
PMID:10629460 |
RGD:5128704 |
NCBI chr11:32,137,544...32,155,283
Ensembl chr11:32,137,541...32,150,279
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Irak3 |
interleukin-1 receptor-associated kinase 3 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 5 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:17503328 |
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NCBI chr10:119,977,553...120,038,035
Ensembl chr10:119,977,553...120,038,035
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Irf1 |
interferon regulatory factor 1 |
no_association susceptibility |
ISO ISS |
DNA:polymorphisms:promoter, cds:-300G>T, 4396A>G, 6355G>A (human) OMIM:600807 DNA:repeat:intron (human) protein:increased expression:respiratory tract epithelium |
MouseDO RGD |
PMID:11069564 PMID:16961714 PMID:10225979 |
RGD:5128726, RGD:5128724, RGD:5128723 |
NCBI chr11:53,660,841...53,669,200
Ensembl chr11:53,660,841...53,669,200
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Irf3 |
interferon regulatory factor 3 |
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IMP |
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RGD |
PMID:20673978 |
RGD:5128793 |
NCBI chr 7:44,647,072...44,652,272
Ensembl chr 7:44,647,072...44,652,272
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Itgb3 |
integrin beta 3 |
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ISO ISS |
DNA:SNPs: : OMIM:600807 |
MouseDO RGD |
PMID:17556058 |
RGD:5037230 |
NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
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G |
Itgb6 |
integrin beta 6 |
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IEA |
OMIM:600807 |
MouseDO |
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NCBI chr 2:60,428,636...60,553,005
Ensembl chr 2:60,428,636...60,552,987
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G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor 1 |
|
ISO |
|
RGD |
PMID:21777465 |
RGD:5147661 |
NCBI chr 6:108,190,044...108,528,077
Ensembl chr 6:108,190,057...108,528,070
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G |
Kdr |
kinase insert domain protein receptor |
|
IMP ISO |
associated with Rhinitis,Allergic,Seasonal;protein:increased expression:nasal cavity of mucosa: |
RGD |
PMID:20921519 PMID:17651148 |
RGD:5684385, RGD:8551771 |
NCBI chr 5:76,093,487...76,139,885
Ensembl chr 5:76,093,487...76,139,118
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|
G |
Kif3a |
kinesin family member 3A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
|
NCBI chr11:53,456,531...53,495,075
Ensembl chr11:53,458,206...53,492,794
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|
G |
Krt19 |
keratin 19 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15478392 |
|
NCBI chr11:100,031,636...100,036,752
Ensembl chr11:100,031,636...100,039,491
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G |
Lep |
leptin |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:19705789 |
RGD:5128781 |
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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|
G |
Lgals3 |
lectin, galactose binding, soluble 3 |
treatment |
ISO ISS |
OMIM:600807 |
MouseDO RGD |
PMID:16424226 |
RGD:9685213 |
NCBI chr14:47,611,317...47,623,624
Ensembl chr14:47,605,208...47,623,617
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|
G |
Lta |
lymphotoxin A |
susceptibility no_association |
ISO ISS |
DNA:polymorphisms:promoter OMIM:600807 DNA:polymorphism:intron |
MouseDO RGD |
PMID:15969671 PMID:18947013 PMID:17536219 PMID:12530118 |
RGD:4143373, RGD:4143370, RGD:4143371, RGD:4143254 |
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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G |
Lta4h |
leukotriene A4 hydrolase |
|
ISO |
mRNA:increased expression:lung, cerebral cortex (rat) |
RGD |
PMID:15715933 |
RGD:2316607 |
NCBI chr10:93,289,258...93,320,758
Ensembl chr10:93,289,273...93,320,737
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|
G |
Mbl2 |
mannose-binding lectin (protein C) 2 |
susceptibility |
ISO ISS |
associated with Bronchiolitis;DNA:polymorphism:exon: OMIM:600807 DNA:SNP:cds:p.G54D(human) |
MouseDO RGD |
PMID:22512728 PMID:22674410 |
RGD:8693709, RGD:12910828 |
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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|
G |
Mefv |
Mediterranean fever |
susceptibility |
ISO ISS |
DNA:mutations:exons OMIM:600807 |
MouseDO RGD |
PMID:18219832 |
RGD:5129186 |
NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961
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|
G |
Mif |
macrophage migration inhibitory factor (glycosylation-inhibiting factor) |
severity |
ISO ISS IMP |
protein:increased expression:bronchoalveolar lavage fluid OMIM:600807 DNA:SNP:promoter:rs755622(human) DNA:repeats:promoter |
MouseDO RGD |
PMID:9637721 PMID:19317738 PMID:17373669 PMID:16186482 PMID:16455830 |
RGD:4891043, RGD:4891059, RGD:4891035, RGD:4891052, RGD:1641985 |
NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
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G |
Mmp10 |
matrix metallopeptidase 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16926187 |
|
NCBI chr 9:7,502,343...7,510,243
Ensembl chr 9:7,502,353...7,510,241
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G |
Mmp1b |
matrix metallopeptidase 1b (interstitial collagenase) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24469321 |
|
NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism protein:increased expression:lung DNA:SNP: : rs2664538(human) mRNA, protein:increased expression:lung |
CTD RGD |
PMID:11742282 PMID:15131573 PMID:21439806 PMID:19361849 PMID:20181264 PMID:16191269 PMID:19940022 More...
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RGD:5129204, RGD:5129687, RGD:5130859, RGD:2325953, RGD:5129522 |
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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G |
Mpo |
myeloperoxidase |
susceptibility |
ISO ISS |
DNA:polymorphism: :−463G > A (human) OMIM:600807 protein:increased expression:serum |
MouseDO RGD |
PMID:19544176 PMID:10731862 |
RGD:5130989, RGD:5130994 |
NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239
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Ms4a2 |
membrane-spanning 4-domains, subfamily A, member 2 |
susceptibility |
ISO ISS |
DNA:SNPs:multiple:, rs573790, rs2583476, rs569108 OMIM:600807 DNA:SNPs: : rs556917, rs502581, rs502419 (human) DNA:SNP: : -109C>T (human) Atopy and bronchial hyperresponsiveness, OMIM:147050 |
MouseDO RGD |
PMID:19218813 PMID:21320344 PMID:19862939 PMID:8817330 |
RGD:5131151, RGD:5131149, RGD:5131092, RGD:1599903 |
NCBI chr19:11,592,881...11,601,154
Ensembl chr19:11,592,887...11,601,083
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G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO ISS |
DNA:transition:cds:g.677C>T (human) OMIM:600807 |
MouseDO RGD |
PMID:20456312 |
RGD:4891145 |
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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G |
Muc1 |
mucin 1, transmembrane |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:11802251 |
RGD:5131281 |
NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688
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G |
Muc2 |
mucin 2 |
|
ISO ISS IEP |
associated with hypersensitivity OMIM:600807 |
MouseDO RGD |
PMID:11062147 PMID:14594655 |
RGD:5131178, RGD:7349354 |
NCBI chr 7:141,276,583...141,308,428
Ensembl chr 7:141,276,583...141,308,430
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G |
Muc5ac |
mucin 5, subtypes A and C, tracheobronchial/gastric |
treatment |
ISO IDA IEP |
protein:increased expression:lung mRNA, protein:increased expression:lung mRNA,protein:increased expression:lung |
RGD |
PMID:17698377 PMID:21549818 PMID:21780541 PMID:14594655 PMID:17590487 |
RGD:5131204, RGD:7364729, RGD:7349407, RGD:7349354, RGD:2324962 |
NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968
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G |
Muc5b |
mucin 5, subtype B, tracheobronchial |
|
ISO IEP |
protein:altered expression:sputum |
RGD |
PMID:11802783 PMID:11587997 |
RGD:5131252, RGD:7364763 |
NCBI chr 7:141,392,796...141,426,826
Ensembl chr 7:141,392,807...141,426,821
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G |
Myb |
myeloblastosis oncogene |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19198610 |
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NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883
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G |
Myd88 |
myeloid differentiation primary response gene 88 |
ameliorates |
IMP |
|
RGD |
PMID:26882889 |
RGD:11531666 |
NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477
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G |
Mylk |
myosin, light polypeptide kinase |
|
ISO ISS |
OMIM:600807 |
MouseDO RGD |
PMID:17472811 |
RGD:4891492 |
NCBI chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790
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G |
Nat2 |
N-acetyltransferase 2 (arylamine N-acetyltransferase) |
susceptibility |
ISO ISS |
DNA:polymorphisms: : OMIM:600807 Asthma, Aspirin-Induced; DNA:polymorphism: : |
MouseDO RGD |
PMID:16924569 PMID:20602614 |
RGD:5131606, RGD:5131600 |
NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236
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G |
Nfe2l2 |
nuclear factor, erythroid derived 2, like 2 |
severity |
ISO |
mRNA:increased expression:bronchoalveolar lavage cell, peripheral blood mononuclear cell (human) |
RGD |
PMID:21514635 |
RGD:6893376 |
NCBI chr 2:75,505,857...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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G |
Ngf |
nerve growth factor |
severity |
ISO ISS IEP |
protein:increased expression:blood, eosinophil OMIM:600807 protein:increased expression:lung, serum |
MouseDO RGD |
PMID:12752594 PMID:17164945 PMID:11737043 PMID:17497413 |
RGD:4891122, RGD:4891108, RGD:4891123, RGD:4891068 |
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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G |
Ngfr |
nerve growth factor receptor (TNFR superfamily, member 16) |
|
IMP |
|
RGD |
PMID:16603479 PMID:12540484 |
RGD:5144070, RGD:5144072 |
NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561
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G |
Nod1 |
nucleotide-binding oligomerization domain containing 1 |
susceptibility |
ISO ISS |
DNA:SNP: :rs2075817 (human) OMIM:600807 DNA:insertion:cds: |
MouseDO RGD |
PMID:16918516 PMID:15718249 |
RGD:5131519, RGD:5131518 |
NCBI chr 6:54,900,927...54,949,655
Ensembl chr 6:54,900,934...54,949,597
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
susceptibility |
ISO ISS IDA |
DNA:polymorphisms:intron, exon/3'UTR (rs1077861, rs3135500) (human) OMIM:600807 |
MouseDO RGD |
PMID:16008671 PMID:21051079 |
RGD:5131477, RGD:5508757 |
NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
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G |
Nos1 |
nitric oxide synthase 1, neuronal |
susceptibility |
ISO ISS |
DNA:repeats:exon OMIM:600807 DNA:repeats:intron DNA:repeats: : |
MouseDO RGD |
PMID:10833424 PMID:14767694 PMID:10673365 PMID:20609134 |
RGD:5132860, RGD:5132615, RGD:5132869, RGD:5132863 |
NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905
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G |
Nos2 |
nitric oxide synthase 2, inducible |
severity disease_progression no_association |
IMP ISO IEP |
CTD Direct Evidence: marker/mechanism protein:increased expression, increased activity:lung (rat) DNA:repeats:promoter protein:increased expression:lung, bronchoalveolar lavage fluid associated with Rhinitis, Allergic, Seasonal; protein:increased expression:nasal mucosa DNA:repeats:promoter, introns (human) DNA:SNP:exon:p.S608L (human) mRNA:increased expression:monocyte DNA:repeat:promoter |
CTD RGD |
PMID:19800904 PMID:20841959 PMID:21847581 PMID:18714530 PMID:17161822 PMID:18254476 PMID:17189532 PMID:17177683 PMID:20842520 PMID:16540403 PMID:16703578 More...
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RGD:4891480, RGD:5509073, RGD:4891508, RGD:4891927, RGD:4891910, RGD:4891924, RGD:4891925, RGD:4891419, RGD:4891957, RGD:4891953 |
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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G |
Nos3 |
nitric oxide synthase 3, endothelial cell |
susceptibility |
ISO ISS |
DNA:snps, repeat, haplotype:promoter, introns, exons:multiple (human) OMIM:600807 DNA:polymorphisms:promoter:c. -786C>T, -691C>T (human) DNA:repeats:intron |
MouseDO RGD |
PMID:18486767 PMID:16837812 PMID:16081038 |
RGD:4892053, RGD:4892058, RGD:4892062 |
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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G |
Npsr1 |
neuropeptide S receptor 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 2 |
CTD OMIM ClinVar RGD |
PMID:15073379 PMID:15710598 PMID:15764725 PMID:16926187 PMID:15073379 PMID:18285428 PMID:17702965 More...
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RGD:4891921, RGD:4891922, RGD:4891923 |
NCBI chr 9:24,009,212...24,229,151
Ensembl chr 9:24,009,292...24,227,694
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G |
Npy |
neuropeptide Y |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9731035 |
|
NCBI chr 6:49,799,690...49,806,487
Ensembl chr 6:49,799,690...49,806,487
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G |
Nqo1 |
NAD(P)H dehydrogenase, quinone 1 |
susceptibility |
ISO |
DNA:SNP:exon:c. 609C>T (human) CTD Direct Evidence: marker/mechanism DNA:SNP:exon:c.609C>T (human) |
CTD RGD |
PMID:20049212 PMID:19027876 PMID:19591959 |
RGD:5135006, RGD:5135005 |
NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
treatment susceptibility severity |
ISO ISS |
OMIM:600807 DNA:polymorphism:intron protein:increased expression, decreased activity:leukocyte, mononuclear |
MouseDO RGD |
PMID:18396779 PMID:20727335 PMID:21113676 PMID:18799869 PMID:15295049 |
RGD:4892328, RGD:7174728, RGD:4892568, RGD:4892594, RGD:4892609 |
NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
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G |
Ntf3 |
neurotrophin 3 |
|
IEP ISS ISO |
protein:increased expression:lung, serum OMIM:600807 |
MouseDO RGD |
PMID:17497413 PMID:11737043 |
RGD:4891068, RGD:4891123 |
NCBI chr 6:126,078,375...126,143,734
Ensembl chr 6:126,078,375...126,143,873
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G |
Ntf5 |
neurotrophin 5 |
|
IEP |
protein:increased expression:lung, serum |
RGD |
PMID:17497413 |
RGD:4891068 |
NCBI chr 7:45,063,119...45,066,603
Ensembl chr 7:45,063,119...45,066,603
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G |
Ntrk1 |
neurotrophic tyrosine kinase, receptor, type 1 |
|
IMP ISO |
mRNA:increased expression:lung: |
RGD |
PMID:20934630 PMID:16708804 |
RGD:5684766, RGD:5684772 |
NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469
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G |
Ormdl3 |
ORM1-like 3 (S. cerevisiae) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21150878 PMID:25256354 |
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NCBI chr11:98,472,120...98,478,071
Ensembl chr11:98,472,082...98,478,194
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G |
P2ry12 |
purinergic receptor P2Y, G-protein coupled 12 |
|
ISO ISS IMP |
OMIM:600807 |
MouseDO RGD |
PMID:22010907 PMID:19822647 |
RGD:6480532, RGD:6480533 |
NCBI chr 3:59,123,692...59,170,408
Ensembl chr 3:59,123,693...59,170,292
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G |
Parp1 |
poly (ADP-ribose) polymerase family, member 1 |
treatment |
IMP ISO |
CTD Direct Evidence: marker/mechanism protein:increased activation:lung, blood, mononuclear cell |
CTD RGD |
PMID:18261157 PMID:12594058 PMID:26205779 PMID:26205779 |
RGD:5683910, RGD:11073727, RGD:11073727 |
NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819
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G |
Pdcd1 |
programmed cell death 1 |
treatment |
IMP |
associated with Chlamydia pneumonia |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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G |
Pde4b |
phosphodiesterase 4B, cAMP specific |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
|
NCBI chr 4:101,944,529...102,464,472
Ensembl chr 4:101,944,740...102,464,456
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G |
Pde4d |
phosphodiesterase 4D, cAMP specific |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19426955 PMID:21611147 |
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NCBI chr13:108,790,711...110,092,503
Ensembl chr13:108,586,482...110,089,995
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G |
Pdgfb |
platelet derived growth factor, B polypeptide |
|
IEP ISO |
protein: increased expression |
RGD |
PMID:21216974 PMID:21216974 |
RGD:6483071, RGD:6483071 |
NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178
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G |
Pgf |
placental growth factor |
|
IMP ISS |
OMIM:600807 |
MouseDO RGD |
PMID:22268141 |
RGD:6483605 |
NCBI chr12:85,213,411...85,224,559
Ensembl chr12:85,213,409...85,224,564
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
|
IMP |
|
RGD |
PMID:18754810 |
RGD:6482695 |
NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658
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G |
Pin1 |
peptidyl-prolyl cis/trans isomerase, NIMA-interacting 1 |
|
IMP |
|
RGD |
PMID:18188456 |
RGD:8693422 |
NCBI chr 9:20,563,335...20,575,008
Ensembl chr 9:20,563,391...20,577,880
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G |
Pla2g4a |
phospholipase A2, group IVA (cytosolic, calcium-dependent) |
|
ISO |
|
RGD |
PMID:15557087 |
RGD:1642462 |
NCBI chr 1:149,705,369...149,837,041
Ensembl chr 1:149,705,369...149,837,041
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G |
Pla2g7 |
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Asthma and atopy, susceptibility to |
OMIM CTD ClinVar RGD |
PMID:10733466 PMID:15115767 PMID:10733466 |
RGD:1581025 |
NCBI chr17:43,878,885...43,923,093
Ensembl chr17:43,878,989...43,923,092
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G |
Plau |
plasminogen activator, urokinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21912604 PMID:18519237 |
RGD:4892037 |
NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
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G |
Ppp2ca |
protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22205926 |
|
NCBI chr11:51,989,651...52,013,576
Ensembl chr11:51,989,508...52,018,605
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G |
Prf1 |
perforin 1 (pore forming protein) |
|
IMP ISO |
|
RGD |
PMID:22250087 PMID:21426642 |
RGD:6482815, RGD:6482818 |
NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459
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G |
Prg2 |
proteoglycan 2, bone marrow |
severity disease_progression no_association |
ISO IMP |
mRNA:increased expression:eosinophil: associated with cough;protein:increased expression:sputum: associated with viral infection;mRNA:increased expression:sputum: |
RGD |
PMID:16982448 PMID:22022864 PMID:24450586 PMID:11067904 |
RGD:13506941, RGD:13506944, RGD:13506943, RGD:13506942 |
NCBI chr 2:84,810,805...84,813,977
Ensembl chr 2:84,810,805...84,813,976
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G |
Prmt1 |
protein arginine N-methyltransferase 1 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr 7:44,626,179...44,635,844
Ensembl chr 7:44,625,413...44,635,992
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G |
Prmt2 |
protein arginine N-methyltransferase 2 |
|
ISO |
mRNA:increased expression:lung, spleen |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr10:76,043,060...76,073,699
Ensembl chr10:76,043,056...76,073,699
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G |
Prmt3 |
protein arginine N-methyltransferase 3 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr 7:49,428,067...49,508,016
Ensembl chr 7:49,428,094...49,508,013
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G |
Prmt5 |
protein arginine N-methyltransferase 5 |
|
ISO |
mRNA:increased expression:lung, spleen |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr14:54,744,639...54,754,927
Ensembl chr14:54,744,644...54,754,982
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G |
Proc |
protein C |
treatment |
ISO ISS |
OMIM:600807 |
MouseDO RGD |
PMID:26381519 |
RGD:11099992 |
NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623
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G |
Prol1 |
proline rich, lacrimal 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma, protection against CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:11378823 PMID:16759176 |
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NCBI chr 5:88,465,171...88,476,676
Ensembl chr 5:88,465,171...88,476,673
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17982072 |
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NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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G |
Ptgdr |
prostaglandin D receptor |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
|
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NCBI chr14:45,088,692...45,096,832
Ensembl chr14:45,088,692...45,096,832
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G |
Ptgdr2 |
prostaglandin D2 receptor 2 |
|
ISO IMP |
Aspirin exacerbated asthma CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:27103662 PMID:19796209 PMID:19392992 PMID:18757520 |
RGD:5135020, RGD:5135019, RGD:5135018 |
NCBI chr19:10,901,883...10,919,875
Ensembl chr19:10,914,524...10,919,875
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G |
Ptger3 |
prostaglandin E receptor 3 (subtype EP3) |
treatment |
ISO |
|
RGD |
PMID:23221044 |
RGD:10043366 |
NCBI chr 3:157,272,459...157,350,392
Ensembl chr 3:157,272,529...157,351,525
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
susceptibility severity |
ISO ISS IEP IMP |
OMIM:600807 mRNA:increased expression:lung DNA:SNP: :8473T>C (human) mRNA, protein:increased expression:lung: DNA:SNP: :rs689465 (human) |
MouseDO RGD |
PMID:19862936 PMID:19878559 PMID:15316498 PMID:17573729 PMID:18097056 PMID:18489027 PMID:19342146 More...
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RGD:5135515, RGD:5135514, RGD:5143931, RGD:5143923, RGD:5135534, RGD:5135526, RGD:5135522 |
NCBI chr 1:149,975,782...149,983,985
Ensembl chr 1:149,975,782...149,983,978
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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 chr11:53,540,346...53,598,146
Ensembl chr11:53,540,346...53,598,146
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G |
Rhoa |
ras homolog family member A |
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ISO |
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RGD |
PMID:18391481 |
RGD:2298885 |
NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133
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G |
Runx1 |
runt related transcription factor 1 |
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ISO |
DNA:SNPs: :multiple |
RGD |
PMID:21803869 |
RGD:6482835 |
NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037
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G |
Runx3 |
runt related transcription factor 3 |
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IEA |
OMIM:600807 |
MouseDO |
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NCBI chr 4:134,847,956...134,905,301
Ensembl chr 4:134,847,963...134,905,301
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G |
Scgb1a1 |
secretoglobin, family 1A, member 1 |
susceptibility |
ISO ISS |
mRNA,protein:decreased expression:bronchial alveolar lavage fluid, lung: OMIM:600807 ClinVar Annotator: match by term: Asthma, susceptibility to associated with allergic rhinitis; DNA:SNP:exon:38G>A (human) protein:decreased expression:serum |
MouseDO ClinVar RGD |
PMID:9550363 PMID:9643286 PMID:12100044 PMID:12921604 PMID:21255142 PMID:15467329 More...
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RGD:5144052, RGD:5144226, RGD:5144148 |
NCBI chr19:9,061,006...9,065,320
Ensembl chr19:9,061,000...9,065,322
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G |
Scgb3a2 |
secretoglobin, family 3A, member 2 |
susceptibility severity no_association |
ISO IEP IDA |
DNA:SNP:promoter:-112G>A (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Asthma, susceptibility to mRNA,protein:decreased expression:;lung protein:increased expression:sputum |
CTD OMIM ClinVar RGD |
PMID:11813133 PMID:11813133 PMID:15531759 PMID:16456148 PMID:17218572 PMID:18089940 PMID:18201431 More...
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RGD:5144229, RGD:5128690, RGD:5144233, RGD:5144232, RGD:5144231, RGD:5144230 |
NCBI chr18:43,897,346...43,900,464
Ensembl chr18:43,897,354...43,900,464
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G |
Sell |
selectin, lymphocyte |
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IMP |
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RGD |
PMID:21437035 PMID:21515793 |
RGD:5685685, RGD:5685696 |
NCBI chr 1:163,889,556...163,908,354
Ensembl chr 1:163,889,551...163,911,750
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G |
Serpine1 |
serine (or cysteine) peptidase inhibitor, clade E, member 1 |
severity susceptibility no_association |
ISO ISS |
protein:increased expression:plasma OMIM:600807 DNA:polymorphism:promoter:rs1799768 (human) protein:increased activity, increased expression:plasma, lung |
MouseDO RGD |
PMID:19703828 PMID:19063817 PMID:19604112 PMID:18594148 |
RGD:4144831, RGD:4144832, RGD:4144833, RGD:4144836 |
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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G |
Sftpa1 |
surfactant associated protein A1 |
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ISO IEP |
protein:decreased expression:lung, Clara cell, pneumocyte mRNA, protein:increased expression:lung |
RGD |
PMID:15816355 PMID:16629790 PMID:18926058 PMID:18802356 |
RGD:4143398, RGD:4143462, RGD:4143289, RGD:4143516 |
NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409
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G |
Sftpb |
surfactant associated protein B |
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ISO IEP |
protein:increased expression:lung mRNA, protein:decreased expression:lung protein:decreased expression:lung, Clara cell |
RGD |
PMID:16629790 PMID:11472974 PMID:15816355 PMID:18926058 |
RGD:4143462, RGD:4143465, RGD:4143398, RGD:4143289 |
NCBI chr 6:72,281,594...72,291,356
Ensembl chr 6:72,281,594...72,291,354
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G |
Sftpc |
surfactant associated protein C |
susceptibility |
ISO ISS IEP |
DNA:polymorphism: :p.A53T (human) OMIM:600807 protein:increased expression:lung mRNA, protein:decreased expression:lung |
MouseDO RGD |
PMID:19910179 PMID:16629790 PMID:11472974 |
RGD:4144063, RGD:4143462, RGD:4143465 |
NCBI chr14:70,758,381...70,761,521
Ensembl chr14:70,758,389...70,761,521
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G |
Sftpd |
surfactant associated protein D |
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ISO ISS IEP |
mRNA, protein:increased expression:lung OMIM:600807 associated with Bronchitis;protein:increased expression:lung |
MouseDO RGD |
PMID:18802356 PMID:11472974 PMID:18266831 PMID:16839409 PMID:16629790 |
RGD:4143516, RGD:4143465, RGD:4143517, RGD:4143508, RGD:4143462 |
NCBI chr14:40,894,169...40,907,155
Ensembl chr14:40,894,171...40,907,106
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G |
Slc11a1 |
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 |
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IAGP |
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RGD |
PMID:12847242 |
RGD:5684966 |
NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
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G |
Slc18a3 |
solute carrier family 18 (vesicular monoamine), member 3 |
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ISO |
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RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr14:32,184,394...32,186,807
Ensembl chr14:32,184,395...32,186,807
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G |
Slc22a1 |
solute carrier family 22 (organic cation transporter), member 1 |
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ISO |
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RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr17:12,867,761...12,894,725
Ensembl chr17:12,867,756...12,894,716
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G |
Slc5a7 |
solute carrier family 5 (choline transporter), member 7 |
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ISO |
mRNA:decreased expression:lung |
RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr17:54,580,618...54,606,071
Ensembl chr17:54,580,618...54,606,062
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G |
Slc6a4 |
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 |
susceptibility |
ISO ISS |
DNA:repeat:intron (human) OMIM:600807 |
MouseDO RGD |
PMID:19806585 |
RGD:4889460 |
NCBI chr11:76,889,423...76,923,169
Ensembl chr11:76,889,429...76,923,166
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G |
Sod1 |
superoxide dismutase 1, soluble |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22867017 |
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NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
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G |
Sod2 |
superoxide dismutase 2, mitochondrial |
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ISO ISS |
OMIM:600807 |
MouseDO RGD |
PMID:15743779 |
RGD:1581231 |
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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G |
Sprr2b |
small proline-rich protein 2B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
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NCBI chr 3:92,224,012...92,225,392
Ensembl chr 3:92,223,927...92,225,392
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G |
Stat4 |
signal transducer and activator of transcription 4 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:28807506 PMID:18211752 |
RGD:2317290 |
NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
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G |
Stat6 |
signal transducer and activator of transcription 6 |
treatment |
ISO |
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RGD |
PMID:19087723 PMID:16083555 |
RGD:7244151, RGD:7244153 |
NCBI chr10:127,478,855...127,496,856
Ensembl chr10:127,478,855...127,496,826
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G |
Tac1 |
tachykinin 1 |
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ISO |
protein:increased expression:lung |
RGD |
PMID:11031342 |
RGD:5147836 |
NCBI chr 6:7,555,061...7,562,978
Ensembl chr 6:7,554,879...7,565,834
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G |
Tacr1 |
tachykinin receptor 1 |
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ISO |
protein:increased expression:lung mRNA:increased expression:lung mRNA,protein:increased expression:lung |
RGD |
PMID:17392578 PMID:8240667 PMID:16409782 |
RGD:2304339, RGD:5147645, RGD:5147475 |
NCBI chr 6:82,378,990...82,537,085
Ensembl chr 6:82,379,315...82,537,085
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G |
Tacr2 |
tachykinin receptor 2 |
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ISO ISS |
DNA:SNP:cds:p.G231E (human) OMIM:600807 |
MouseDO RGD |
PMID:20175803 PMID:19880429 |
RGD:5147640, RGD:5147641 |
NCBI chr10:62,088,217...62,101,769
Ensembl chr10:62,088,217...62,101,769
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G |
Tap1 |
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) |
susceptibility |
ISO ISS |
DNA:polymorphism: : OMIM:600807 |
MouseDO RGD |
PMID:12640628 |
RGD:5147845 |
NCBI chr17:34,406,530...34,416,199
Ensembl chr17:34,406,527...34,416,199
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G |
Tbx21 |
T-box 21 |
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ISO IEA |
CTD Direct Evidence: marker/mechanism OMIM:600807 |
CTD MouseDO |
PMID:15806396 |
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NCBI chr11:96,988,833...97,006,157
Ensembl chr11:96,988,897...97,006,157
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G |
Tbxa2r |
thromboxane A2 receptor |
susceptibility severity |
ISO ISS |
OMIM:600807 DNA:polymorphism:cds:924T>C(human) |
MouseDO RGD |
PMID:15118671 PMID:12000493 PMID:15805995 |
RGD:1331525, RGD:11059535, RGD:11059534 |
NCBI chr10:81,164,102...81,171,008
Ensembl chr10:81,164,565...81,171,006
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G |
Tgfb1 |
transforming growth factor, beta 1 |
no_association onset |
ISO IMP IEP |
DNA:polymorphism: :-509C>T (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:promoter, exon:multiple (human) mRNA:increased expression:lung protein:increased expression:serum DNA:SNP:cds:915G>C (human) DNA:polymorphisms: :multiple (human) DNA:SNP: :-509C>T (human) |
CTD RGD |
PMID:16365456 PMID:19138248 PMID:19222424 PMID:19620629 PMID:19096005 PMID:20485865 PMID:19317336 PMID:19046298 PMID:19136038 PMID:18366906 PMID:17673695 PMID:18711258 PMID:19533439 More...
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RGD:4145299, RGD:4145132, RGD:4145143, RGD:4145113, RGD:4145139, RGD:4145142, RGD:4145144, RGD:4145280, RGD:4145295, RGD:4143443, RGD:4145297 |
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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G |
Thbd |
thrombomodulin |
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ISO ISS |
OMIM:600807 |
MouseDO RGD |
PMID:20709825 |
RGD:5684984 |
NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
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G |
Timp3 |
tissue inhibitor of metalloproteinase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16926187 |
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NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370
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G |
Tlr1 |
toll-like receptor 1 |
susceptibility |
ISO ISS |
DNA:SNP (human) OMIM:600807 |
MouseDO RGD |
PMID:18547625 |
RGD:4889528 |
NCBI chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906
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G |
Tlr2 |
toll-like receptor 2 |
susceptibility severity |
ISO ISS IEP IMP |
DNA:SNP: :596T>C (human) OMIM:600807 DNA:polymorphism:cds:p.R753Q(human) DNA:SNP: :rs3804100 (human) DNA:SNP: :rs4696480 (human) DNA:SNP: :rs7656411 (human) |
MouseDO RGD |
PMID:19096003 PMID:22402138 PMID:19148143 PMID:20685742 PMID:20815312 PMID:18202345 PMID:18787777 More...
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RGD:4144228, RGD:7800732, RGD:2312679, RGD:4144171, RGD:4145352, RGD:4145343, RGD:4145334 |
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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G |
Tlr3 |
toll-like receptor 3 |
no_association |
ISO ISS IMP |
Asthma, Virus-Induced; mRNA:increased expression:sputum (human) OMIM:600807 DNA:snp:cds:p.L412F (human) |
MouseDO RGD |
PMID:21129050 PMID:14987294 PMID:21364926 PMID:17434873 PMID:17610940 |
RGD:5129226, RGD:5129493, RGD:5128500, RGD:5129478, RGD:5129475 |
NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117
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G |
Tlr4 |
toll-like receptor 4 |
susceptibility no_association severity |
ISO ISS IDA IMP |
DNA:Polymorphism:cds:p.D299G (human) OMIM:600807 DNA:SNPs: :rs10983755, rs1927914 (human) DNA:SNPs:: protein:decreased expression:leukocytes, mononuclear DNA:polymorphisms:cds:c.896A>G, 1196C>T (human) |
MouseDO RGD |
PMID:15356557 PMID:19159017 PMID:20628601 PMID:19330007 PMID:20685742 PMID:19067129 PMID:16266379 More...
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RGD:4144817, RGD:4144188, RGD:4144176, RGD:4144141, RGD:4144171, RGD:4144190, RGD:4144198 |
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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G |
Tlr6 |
toll-like receptor 6 |
susceptibility |
ISO ISS |
DNA:SNP (human) OMIM:600807 DNA:SNP: :p.S249P (human) |
MouseDO RGD |
PMID:18547625 PMID:15266299 |
RGD:4889528, RGD:4889538 |
NCBI chr 5:65,109,379...65,128,387
Ensembl chr 5:65,109,374...65,117,440
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G |
Tlr9 |
toll-like receptor 9 |
no_association susceptibility severity |
ISO ISS IMP |
DNA:snp:promoter:g.-1237T>C rs5743836 (human) OMIM:600807 protein:increased expression:peripheral blood mononuclear cell (human) |
MouseDO RGD |
PMID:21324137 PMID:18312481 PMID:20016192 PMID:20072849 |
RGD:5130712, RGD:4144208, RGD:5129104, RGD:4889523 |
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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G |
Tnc |
tenascin C |
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ISO IMP |
DNA:SNP:exon:p.L1677I (human) CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple (human) protein:increased expression:bronchus basement membrane |
CTD RGD |
PMID:16115819 PMID:16115819 PMID:18305139 PMID:17125141 PMID:9310019 |
RGD:4889569, RGD:4889589, RGD:4889565, RGD:4889572 |
NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252
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G |
Tnf |
tumor necrosis factor |
susceptibility no_association |
ISO IMP |
DNA:polymorphism:promoter: c. -308A>G (human) ClinVar Annotator: match by term: Asthma, susceptibility to CTD Direct Evidence: marker/mechanism associated with obesity; DNA:polymorphism:promoter DNA:polymorphisms:: rs1799964, rs1799724 (human) DNA:polymorphisms: : associated with nasal polys; protein:increased expression:nose DNA:polymorphism:promoter:c.-863C > A (human) |
ClinVar OMIM CTD RGD |
PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 PMID:11826025 PMID:11896460 PMID:12356572 PMID:12485196 PMID:12746914 PMID:12759288 PMID:14681301 PMID:14718719 PMID:16418737 PMID:16456144 PMID:16720636 PMID:16865291 PMID:16909270 PMID:17450233 PMID:18050183 PMID:18713756 PMID:19365401 PMID:20049212 PMID:22760475 PMID:22992668 PMID:18711258 PMID:19196817 PMID:16393274 PMID:18811622 PMID:12530118 PMID:18763028 PMID:20465535 PMID:16728705 More...
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RGD:4143443, RGD:4143238, RGD:4145508, RGD:4143240, RGD:4143254, RGD:4142802, RGD:4143369, RGD:4143372 |
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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G |
Tnfrsf1a |
tumor necrosis factor receptor superfamily, member 1a |
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IEP |
protein:increased expression:lung (mouse) |
RGD |
PMID:20484920 |
RGD:5131201 |
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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G |
Tnip1 |
TNFAIP3 interacting protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24453940 |
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NCBI chr11:54,801,613...54,853,766
Ensembl chr11:54,801,611...54,853,743
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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 chr 1:14,942,868...14,989,086
Ensembl chr 1:14,942,872...14,989,086
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G |
Tslp |
thymic stromal lymphopoietin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21804549 |
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NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850
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G |
Ucn |
urocortin |
|
ISO |
associated with Hypersensitivity;mRNA, protein:increased expression:lung |
RGD |
PMID:16427607 |
RGD:1642781 |
NCBI chr 5:31,295,333...31,296,239
Ensembl chr 5:31,295,407...31,296,173
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G |
Uts2 |
urotensin 2 |
|
ISO |
|
RGD |
PMID:17045018 |
RGD:2306832 |
NCBI chr 4:151,081,554...151,086,267
Ensembl chr 4:151,081,554...151,086,267
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G |
Vdr |
vitamin D (1,25-dihydroxyvitamin D3) receptor |
no_association |
ISO ISS |
DNA:SNP: :rs7975232 (human) OMIM:600807 DNA:SNPs: :multiple (human) DNA:SNP (human) DNA:SNPs (human) |
MouseDO RGD |
PMID:19622139 PMID:15282200 PMID:21103062 PMID:20124605 |
RGD:4889868, RGD:4889854, RGD:4889866, RGD:4889867 |
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
protein:increased expression:sputum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11907124 PMID:15201500 PMID:19263519 PMID:19178538 |
RGD:6892723 |
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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G |
Vip |
vasoactive intestinal polypeptide |
|
ISO IDA |
|
RGD |
PMID:21419198 PMID:16782752 |
RGD:5685381, RGD:5685620 |
NCBI chr10:5,589,131...5,597,617
Ensembl chr10:5,589,218...5,597,617
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G |
Wdr36 |
WD repeat domain 36 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19198610 |
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NCBI chr18:32,970,241...33,000,008
Ensembl chr18:32,970,278...33,000,647
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G |
H2-Ea |
histocompatibility 2, class II antigen E alpha |
susceptibility |
ISO |
DNA:SNPs,haplotype:introns: |
RGD |
PMID:22391069 |
RGD:13506908 |
NCBI chr17:34,560,926...34,563,619
Ensembl chr17:34,561,907...34,563,618
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G |
Tbx21 |
T-box 21 |
|
ISO |
ClinVar Annotator: match by term: Asthma and nasal polyps |
ClinVar |
PMID:15806396 |
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NCBI chr11:96,988,833...97,006,157
Ensembl chr11:96,988,897...97,006,157
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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 chr11:70,234,973...70,279,465
Ensembl chr11:70,234,978...70,242,857
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G |
Ptger2 |
prostaglandin E receptor 2 (subtype EP2) |
|
ISO |
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OMIM |
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NCBI chr14:45,225,568...45,241,277
Ensembl chr14:45,225,652...45,241,277
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G |
Tbx21 |
T-box 21 |
|
ISO |
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr11:96,988,833...97,006,157
Ensembl chr11:96,988,897...97,006,157
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G |
Actl9 |
actin-like 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr17:33,651,873...33,653,242
Ensembl chr17:33,651,870...33,653,242
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G |
Adam17 |
a disintegrin and metallopeptidase domain 17 |
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IEA |
OMIM:603165 |
MouseDO |
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NCBI chr12:21,373,510...21,423,633
Ensembl chr12:21,373,510...21,423,633
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G |
Ahr |
aryl-hydrocarbon receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27869817 |
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NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037
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G |
Apoe |
apolipoprotein E |
|
ISO ISS |
protein:decreased expression:plasma OMIM:603165 |
MouseDO RGD |
PMID:19116453 |
RGD:11040546 |
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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G |
Artn |
artemin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27869817 |
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NCBI chr 4:117,783,105...117,787,993
Ensembl chr 4:117,783,359...117,786,960
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G |
Bdnf |
brain derived neurotrophic factor |
susceptibility no_association |
ISO ISS |
DNA:polymorphism::C270T(human) OMIM:603165 protein:increased expression:serum: DNA:polymorphism:cds:p.V66M(human) mRNA:decreased expression:mast cell |
MouseDO RGD |
PMID:19522715 PMID:17073871 PMID:19038326 PMID:17845420 |
RGD:8657028, RGD:8657069, RGD:8657067, RGD:8657065 |
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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G |
C3 |
complement component 3 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:3923750 |
RGD:7401273 |
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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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 5:140,858,754...140,986,351
Ensembl chr 5:140,858,745...140,986,337
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G |
Casp8 |
caspase 8 |
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IEA |
OMIM:603165 |
MouseDO |
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NCBI chr 1:58,834,398...58,886,662
Ensembl chr 1:58,834,533...58,886,662
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G |
Ccdc80 |
coiled-coil domain containing 80 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr16:44,913,770...44,948,287
Ensembl chr16:44,913,765...44,948,440
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G |
Ccl11 |
chemokine (C-C motif) ligand 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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G |
Ccl17 |
chemokine (C-C motif) ligand 17 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664
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G |
Ccl20 |
chemokine (C-C motif) ligand 20 |
severity treatment |
ISO IEP |
protein:increased expression:plasma |
RGD |
PMID:11133838 PMID:19162238 |
RGD:7483580, RGD:7483583 |
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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G |
Ccl22 |
chemokine (C-C motif) ligand 22 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 PMID:22125604 |
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NCBI chr 8:95,472,312...95,478,016
Ensembl chr 8:95,472,218...95,478,327
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G |
Ccl24 |
chemokine (C-C motif) ligand 24 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr 5:135,598,789...135,601,977
Ensembl chr 5:135,598,791...135,601,903
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G |
Ccl26 |
chemokine (C-C motif) ligand 26 |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:14616792 |
RGD:11087554 |
NCBI chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
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G |
Ccl27a |
chemokine (C-C motif) ligand 27A |
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ISO |
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RGD |
PMID:12642842 |
RGD:1626250 |
NCBI chr 4:41,769,467...41,774,251
Ensembl chr 4:41,769,467...41,774,247
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G |
Ccl28 |
chemokine (C-C motif) ligand 28 |
severity |
ISO |
associated with Asthma; protein: increased secretion:serum (human) |
RGD |
PMID:20161852 |
RGD:4892193 |
NCBI chr13:120,085,355...120,115,895
Ensembl chr13:120,085,355...120,115,895
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G |
Ccl5 |
chemokine (C-C motif) ligand 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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G |
Ccr2 |
chemokine (C-C motif) receptor 2 |
|
ISO |
protein:increased expression:skin,monocyte: |
RGD |
PMID:15370700 |
RGD:8661734 |
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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G |
Ccr3 |
chemokine (C-C motif) receptor 3 |
|
ISO |
protein:increased expression:skin CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:16449815 |
RGD:6893391 |
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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G |
Ccr5 |
chemokine (C-C motif) receptor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:16449815 |
RGD:6893391 |
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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G |
Cd40 |
CD40 antigen |
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ISO |
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RGD |
PMID:18693155 |
RGD:5132274 |
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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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 chr17:35,853,994...35,868,077
Ensembl chr17:35,863,025...35,868,077
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G |
Cldn1 |
claudin 1 |
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ISO ISS |
mRNA,protein:decreased expression:epidermis; DNA:SNPs:intron,promoter :rs17501010,rs9290927,rs893051,rs9290929,rs16865373(human) OMIM:603165 |
MouseDO RGD |
PMID:21163515 |
RGD:11344875 |
NCBI chr16:26,175,395...26,190,589
Ensembl chr16:26,175,392...26,190,591
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G |
Cldn23 |
claudin 23 |
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ISO |
mRNA:decreased expression:epidermis: |
RGD |
PMID:21163515 |
RGD:11344875 |
NCBI chr 8:36,291,863...36,293,713
Ensembl chr 8:36,291,866...36,293,713
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G |
Cma1 |
chymase 1, mast cell |
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ISO ISS |
DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) OMIM:603165 |
MouseDO RGD |
PMID:16134991 |
RGD:1625394 |
NCBI chr14:56,178,908...56,182,132
Ensembl chr14:56,178,908...56,182,132
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
susceptibility |
ISO ISS |
DNA:SNP,haplotype:exon,3'UTR:rs3087243,rs231775 (human) OMIM:603165 mRNA:increased expression:blood: |
MouseDO RGD |
PMID:16445777 PMID:22357516 |
RGD:7411698, RGD:7411700 |
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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G |
Ctse |
cathepsin E |
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IEA |
OMIM:603165 |
MouseDO |
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NCBI chr 1:131,566,052...131,603,245
Ensembl chr 1:131,566,044...131,603,243
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G |
Cx3cl1 |
chemokine (C-X3-C motif) ligand 1 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:15131578 |
RGD:9491761 |
NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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G |
Cx3cr1 |
chemokine (C-X3-C motif) receptor 1 |
|
IMP ISO |
protein:decreased expression:blood, leukocyte |
RGD |
PMID:24821910 PMID:15131578 |
RGD:9491393, RGD:9491761 |
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,730,682...119,898,945
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G |
Cxcl10 |
chemokine (C-X-C motif) ligand 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748
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G |
Cxcr3 |
chemokine (C-X-C motif) receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27869817 |
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NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
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G |
Cyp4f39 |
cytochrome P450, family 4, subfamily f, polypeptide 39 |
|
ISO |
ClinVar Annotator: match by term: Atopic eczema |
ClinVar |
PMID:25741868 |
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NCBI chr17:32,671,670...32,712,294
Ensembl chr17:32,671,697...32,712,294
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G |
Dock8 |
dedicator of cytokinesis 8 |
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ISO ISS |
DNA:mutations:cds: OMIM:603165 |
MouseDO RGD |
PMID:22476911 |
RGD:40903056 |
NCBI chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796
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G |
Emsy |
EMSY, BRCA2-interacting transcriptional repressor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr 7:98,236,344...98,308,779
Ensembl chr 7:98,236,344...98,305,990
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G |
F2 |
coagulation factor II |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:21488867 |
RGD:5147756 |
NCBI chr 2:91,442,742...91,466,802
Ensembl chr 2:91,455,665...91,466,759
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G |
Fcgr3 |
Fc receptor, IgG, low affinity III |
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IMP |
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RGD |
PMID:19414806 |
RGD:5508430 |
NCBI chr 1:170,878,738...170,893,476
Ensembl chr 1:170,878,743...170,892,504
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G |
Flg |
filaggrin |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atopic eczema |
CTD ClinVar |
PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17417636 PMID:17657246 PMID:18325573 PMID:19349982 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:23042114 PMID:23166590 PMID:23343419 PMID:23348739 PMID:23352160 PMID:23947670 PMID:23993222 PMID:24033266 PMID:24061166 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 chr 3:93,180,853...93,200,996
Ensembl chr 3:93,180,830...93,200,993
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G |
Glb1 |
galactosidase, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr 9:114,230,146...114,303,447
Ensembl chr 9:114,230,144...114,303,966
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G |
Gstm1 |
glutathione S-transferase, mu 1 |
susceptibility |
ISO ISS |
DNA:deletion: : OMIM:603165 |
MouseDO RGD |
PMID:21176116 PMID:20674822 |
RGD:5490539, RGD:5490981 |
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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G |
Gstp1 |
glutathione S-transferase, pi 1 |
susceptibility |
ISO ISS |
DNA:polymorphism:exon:p.I105V (rs1695) (human) OMIM:603165 |
MouseDO RGD |
PMID:19842992 PMID:20674822 |
RGD:5490540, RGD:5490981 |
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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G |
Gstt1 |
glutathione S-transferase, theta 1 |
|
ISO ISS |
DNA:deletion, haplotype: : OMIM:603165 |
MouseDO RGD |
PMID:19842992 |
RGD:5490540 |
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
|
ISO ISS |
OMIM:603165 |
MouseDO RGD |
PMID:16159638 |
RGD:5128852 |
NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405
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G |
Hnmt |
histamine N-methyltransferase |
|
ISO ISS |
OMIM:603165 |
MouseDO RGD |
PMID:19025430 |
RGD:5128889 |
NCBI chr 2:23,892,923...23,939,756
Ensembl chr 2:23,892,922...23,939,406
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G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:22101570 |
RGD:8157618 |
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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G |
Ifnl2 |
interferon lambda 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22295096 |
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NCBI chr 7:28,208,209...28,209,957
Ensembl chr 7:28,208,261...28,209,880
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G |
Il10 |
interleukin 10 |
treatment |
IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:23843958 |
RGD:7364805 |
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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G |
Il13 |
interleukin 13 |
severity treatment |
ISO IEA IEP IMP |
DNA:SNPs: :rs3091307, rs20541 (human) OMIM:603165 CTD Direct Evidence: marker/mechanism DNA:SNP:exon:4257G>A (human) DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human) |
MouseDO CTD RGD |
PMID:18249437 PMID:22355542 PMID:21913997 PMID:16672002 PMID:17313488 PMID:19006098 PMID:10887320 PMID:23317483 More...
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RGD:5684364, RGD:8549583, RGD:8549539, RGD:8549531, RGD:8549529, RGD:8549509 |
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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G |
Il13ra1 |
interleukin 13 receptor, alpha 1 |
|
ISO |
mRNA:increased expression:skin |
RGD |
PMID:14527737 |
RGD:8549525 |
NCBI chr X:35,375,761...35,434,915
Ensembl chr X:35,375,763...35,434,912
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G |
Il13ra2 |
interleukin 13 receptor, alpha 2 |
|
ISO IMP |
protein:increased expression:serum |
RGD |
PMID:21462799 PMID:20971924 |
RGD:8549521, RGD:8549556 |
NCBI chr X:146,166,474...146,214,982
Ensembl chr X:146,166,472...146,212,188
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G |
Il17a |
interleukin 17A |
treatment severity |
IDA ISO IEP |
protein:increased expression:dermis, lymphocyte (human) protein:increased expression:epidermis (mouse) |
RGD |
PMID:24337738 PMID:18432274 PMID:22848348 |
RGD:8698670, RGD:9068436, RGD:9068417 |
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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G |
Il18 |
interleukin 18 |
severity no_association |
ISO ISS IEA IEP |
protein:increased expression:serum OMIM:603165 DNA:SNP:promoter:-140C>G (rs360721) (human) DNA:SNP:promoter:-137G>C (rs187238) (human) DNA:SNPs, haplotype: :rs795467, rs4937113, rs5744247 (human) |
MouseDO RGD |
PMID:15317323 PMID:22840759 PMID:22840759 PMID:11490156 PMID:17517100 |
RGD:8655872, RGD:8655914, RGD:8655914, RGD:8655908, RGD:8655876 |
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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G |
Il2 |
interleukin 2 |
susceptibility |
ISO ISS IMP |
associated with food hypersensitivity; OMIM:603165 protein:increased expression:CD8+ T cell: DNA:SNP:promoter:rs2069762(human) |
MouseDO RGD |
PMID:7547077 PMID:1673687 PMID:16672002 PMID:16333313 PMID:21982597 |
RGD:8662961, RGD:8693325, RGD:8549583, RGD:8663473, RGD:8663444 |
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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G |
Il21r |
interleukin 21 receptor |
|
IMP ISO |
protein:increased expression:skin |
RGD |
PMID:19075398 PMID:19075398 |
RGD:6892938, RGD:6892938 |
NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742
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G |
Il25 |
interleukin 25 |
|
ISO |
protein:increased expression:arm skin |
RGD |
PMID:23657503 |
RGD:39128244 |
NCBI chr14:55,170,152...55,173,294
Ensembl chr14:55,170,152...55,173,294
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G |
Il31 |
interleukin 31 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr 5:123,618,215...123,620,686
Ensembl chr 5:123,618,220...123,627,552
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G |
Il33 |
interleukin 33 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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G |
Il4 |
interleukin 4 |
|
ISO IEA |
DNA:SNP:promoter:-590C>T (human) OMIM:603165 CTD Direct Evidence: marker/mechanism protein:increased expression:serum |
MouseDO CTD RGD |
PMID:11886533 PMID:12230500 PMID:18249437 PMID:9643293 PMID:8363440 |
RGD:7829786, RGD:7829795 |
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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G |
Il4ra |
interleukin 4 receptor, alpha |
susceptibility |
ISO ISS |
DNA:mutation:cds:p.Q576R(human) OMIM:603165 |
MouseDO RGD |
PMID:9392697 |
RGD:11530001 |
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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G |
Il5 |
interleukin 5 |
|
ISO |
mRNA: increased expression: skin CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11886533 PMID:18249437 PMID:22299064 |
RGD:5687175 |
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Kcnj11 |
potassium inwardly rectifying channel, subfamily J, member 11 |
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ISO |
ClinVar Annotator: match by term: Atopic eczema |
ClinVar |
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NCBI chr 7:45,746,547...45,750,376
Ensembl chr 7:45,743,377...45,750,188
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Mapk8 |
mitogen-activated protein kinase 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24046278 |
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NCBI chr14:33,099,855...33,169,215
Ensembl chr14:33,099,855...33,169,115
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Mbl2 |
mannose-binding lectin (protein C) 2 |
susceptibility |
ISO ISS |
DNA:polymorphisms:promoter, exon: OMIM:603165 |
MouseDO RGD |
PMID:20642202 |
RGD:8693720 |
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Mc1r |
melanocortin 1 receptor |
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IEP |
protein: increased expression: skin |
RGD |
PMID:19889022 |
RGD:5687321 |
NCBI chr 8:124,133,821...124,137,483
Ensembl chr 8:124,133,846...124,137,483
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Mmp9 |
matrix metallopeptidase 9 |
treatment |
IEP |
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RGD |
PMID:27776525 |
RGD:13204759 |
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Ms4a2 |
membrane-spanning 4-domains, subfamily A, member 2 |
susceptibility |
ISO ISS |
Atopy and bronchial hyperresponsiveness, OMIM:147050 OMIM:603165 Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G |
MouseDO RGD |
PMID:8817330 PMID:8817330 |
RGD:1599903, RGD:1599903 |
NCBI chr19:11,592,881...11,601,154
Ensembl chr19:11,592,887...11,601,083
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Nat2 |
N-acetyltransferase 2 (arylamine N-acetyltransferase) |
susceptibility no_association |
ISO ISS |
DNA:polymorphisms: :481C>T, 590G>A(human) OMIM:603165 DNA:polymorphisms: :481C>T,590G>A,857G>A(human) |
MouseDO RGD |
PMID:16224574 PMID:14528063 |
RGD:8552664, RGD:8552668 |
NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236
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Nfkbia |
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha |
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IEA |
OMIM:603165 |
MouseDO |
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NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432
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Nfkbiz |
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, zeta |
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IEA |
OMIM:603165 |
MouseDO |
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NCBI chr16:55,631,740...55,659,004
Ensembl chr16:55,631,738...55,659,262
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Ngf |
nerve growth factor |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:17073871 |
RGD:8657069 |
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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Ngfr |
nerve growth factor receptor (TNFR superfamily, member 16) |
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ISO |
protein:increased expression:nerve fibers of the papillary dermis (human) |
RGD |
PMID:16586073 |
RGD:5508452 |
NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561
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Ntrk1 |
neurotrophic tyrosine kinase, receptor, type 1 |
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ISO IMP |
protein:increased expression:eosinophil |
RGD |
PMID:18647313 PMID:17223862 |
RGD:5144116, RGD:5684771 |
NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469
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Ovol1 |
ovo like zinc finger 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr19:5,599,165...5,610,603
Ensembl chr19:5,599,164...5,610,674
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Ppara |
peroxisome proliferator activated receptor alpha |
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IDA ISO |
potential therapeutic target with or without glucocorticoid therapy CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:21633371 |
RGD:5509940 |
NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
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Ppia |
peptidylprolyl isomerase A |
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ISO |
mRNA:increased expression:zone of skin (human) |
RGD |
PMID:32496587 |
RGD:150383342 |
NCBI chr11:6,365,867...6,369,817
Ensembl chr11:6,365,443...6,369,817
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Relb |
avian reticuloendotheliosis viral (v-rel) oncogene related B |
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IMP IEA |
OMIM:603165 |
MouseDO RGD |
PMID:10940923 |
RGD:7777149 |
NCBI chr 7:19,340,142...19,363,363
Ensembl chr 7:19,340,142...19,363,363
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S100a8 |
S100 calcium binding protein A8 (calgranulin A) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18336422 |
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NCBI chr 3:90,576,378...90,577,341
Ensembl chr 3:90,576,285...90,577,342
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Sele |
selectin, endothelial cell |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12410700 |
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NCBI chr 1:163,867,200...163,886,056
Ensembl chr 1:163,875,803...163,885,246
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Selp |
selectin, platelet |
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ISO ISS |
atopy and bronchial hyperresponsiveness, OMIM:147050 OMIM:603165 |
MouseDO RGD |
PMID:12929084 |
RGD:1599904 |
NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595
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Sharpin |
SHANK-associated RH domain interacting protein |
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IEA |
OMIM:603165 |
MouseDO |
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NCBI chr15:76,231,240...76,235,310
Ensembl chr15:76,231,240...76,235,311
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Slc11a1 |
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321 |
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NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
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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 chr10:127,478,855...127,496,856
Ensembl chr10:127,478,855...127,496,826
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Tgfb1 |
transforming growth factor, beta 1 |
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ISO ISS |
OMIM:603165 |
MouseDO RGD |
PMID:11496247 PMID:15118671 |
RGD:7394812, RGD:1331525 |
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Tlr2 |
toll-like receptor 2 |
severity |
ISO ISS |
DNA:polymorphism: :-16934A>T(human) OMIM:603165 DNA:polymorphism:cds:p.R753Q(human) |
MouseDO RGD |
PMID:19627277 PMID:22032785 PMID:17531301 |
RGD:8552997, RGD:8553048, RGD:8552999 |
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4 |
toll-like receptor 4 |
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ISO ISS |
DNA:polymorphism: :896G>A(human) OMIM:603165 mRNA:increased expression:blood cell: |
MouseDO RGD |
PMID:23821954 PMID:19764566 |
RGD:7794689, RGD:7794745 |
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tmem79 |
transmembrane protein 79 |
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IEA |
OMIM:603165 |
MouseDO |
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NCBI chr 3:88,235,960...88,241,740
Ensembl chr 3:88,235,962...88,243,455
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Tnf |
tumor necrosis factor |
susceptibility |
ISO ISS |
DNA:haplotype:promoter:−308G>A,-238G>A(human) OMIM:603165 |
MouseDO RGD |
PMID:22533231 |
RGD:7401246 |
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfaip6 |
tumor necrosis factor alpha induced protein 6 |
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ISO |
mRNA:altered expression:fibroblast |
RGD |
PMID:16650051 |
RGD:7777183 |
NCBI chr 2:51,928,125...51,946,693
Ensembl chr 2:51,928,021...51,946,698
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Traf3ip2 |
TRAF3 interacting protein 2 |
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IEA |
OMIM:603165 |
MouseDO |
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NCBI chr10:39,488,930...39,531,303
Ensembl chr10:39,488,930...39,531,303
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Trpv3 |
transient receptor potential cation channel, subfamily V, member 3 |
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IEA |
OMIM:603165 |
MouseDO |
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NCBI chr11:73,158,315...73,191,194
Ensembl chr11:73,158,214...73,191,189
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Tslp |
thymic stromal lymphopoietin |
treatment |
IEA IEP ISO |
OMIM:603165 CTD Direct Evidence: marker/mechanism |
MouseDO CTD RGD |
PMID:16880407 PMID:22355542 PMID:23688403 PMID:27869817 PMID:29310423 |
RGD:38549374 |
NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850
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Vdr |
vitamin D (1,25-dihydroxyvitamin D3) receptor |
severity no_association |
ISO ISS |
DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human) OMIM:603165 DNA:SNP: :rs2228570 (human) |
MouseDO RGD |
PMID:23034014 PMID:23034014 |
RGD:8157625, RGD:8157625 |
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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Vnn1 |
vanin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19322213 |
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NCBI chr10:23,770,586...23,781,242
Ensembl chr10:23,770,586...23,781,241
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Wasl |
WASP like actin nucleation promoting factor |
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IEA |
OMIM:603165 |
MouseDO |
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NCBI chr 6:24,613,809...24,665,185
Ensembl chr 6:24,613,804...24,665,008
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Flg |
filaggrin |
susceptibility |
IEA ISO |
OMIM:605803 ClinVar Annotator: match by term: Atopic dermatitis 2 | ClinVar Annotator: match by term: Dermatitis, atopic, 2, susceptibility to CTD Direct Evidence: marker/mechanism |
MouseDO ClinVar CTD OMIM |
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 chr 3:93,180,853...93,200,996
Ensembl chr 3:93,180,830...93,200,993
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