RGD DISEASE ONTOLOGY - ANNOTATIONS
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.
Term: allergic disease
Accession: DOID:1205
browse the term
Definition: An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. (DO)
Synonyms: exact_synonym: allergic hypersensitivity disease; allergic reaction; allergic reactions; allergies; allergy; hypersensitivities; hypersensitivity; hypersensitivity reaction type I disease
related_synonym: eye allergy
primary_id: MESH:D006967
xref: EFO:0003785 ; EFO:0005751 ; ICD10CM:T78.40 ; MONDO:0005271 ; NCI:C3114
For additional species annotation, visit the
Alliance of Genome Resources .
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Abcf1
ATP-binding cassette, sub-family F member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr17:36,267,711...36,280,642
Ensembl chr17:36,267,711...36,280,653
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Ace
angiotensin I converting enzyme
susceptibility
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:10200023
RGD:8142344
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Agt
angiotensinogen
susceptibility
ISO
DNA:polymorphism: :p.M235T (human)
RGD
PMID:10200023
RGD:8142344
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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Akr1b1
aldo-keto reductase family 1 member B
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:16979157
RGD:1626088
NCBI chr 6:34,280,865...34,294,424
Ensembl chr 6:34,279,369...34,294,413
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8431628
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Arhgap28
Rho GTPase activating protein 28
susceptibility
ISO
associated with acute lymphoblastic leukemia;DNA:SNP::rs9958628(human)
RGD
PMID:33768542
RGD:407431649
NCBI chr17:68,149,701...68,311,185
Ensembl chr17:68,149,708...68,311,115
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Bcl2a1b
B cell leukemia/lymphoma 2 related protein A1b
IMP
RGD
PMID:11733571
RGD:734640
NCBI chr 9:89,081,326...89,089,891
Ensembl chr 9:89,081,262...89,089,880
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Casp1
caspase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
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Ccl11
C-C motif chemokine ligand 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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Ccl12
C-C motif chemokine ligand 12
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr11:81,992,671...81,994,225
Ensembl chr11:81,992,671...81,994,226
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Ccl17
C-C motif chemokine ligand 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664
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Ccl19
C-C motif chemokine ligand 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15585374 PMID:21625544
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl20
C-C motif chemokine ligand 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Ccl24
C-C motif chemokine ligand 24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 5:135,598,789...135,601,977
Ensembl chr 5:135,598,791...135,601,903
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Ccl3
C-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15585374 PMID:23624239
NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181
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Ccl4
C-C motif chemokine ligand 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15585374 PMID:21625544
NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509
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Ccl7
C-C motif chemokine ligand 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351
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Ccl8
C-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr11:82,006,011...82,007,625
Ensembl chr11:82,006,011...82,007,625
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Ccl9
C-C motif chemokine ligand 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr11:83,463,743...83,469,462
Ensembl chr11:83,463,745...83,469,462
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Ccr1
C-C motif chemokine receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
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Ccr2
C-C motif chemokine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Ccr6
C-C motif chemokine receptor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr17:8,454,875...8,477,353
Ensembl chr17:8,454,875...8,475,973
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Ccr9
C-C motif chemokine receptor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 9:123,596,276...123,612,522
Ensembl chr 9:123,507,504...123,613,395
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Cd14
CD14 antigen
resistance
ISO
DNA:polymorphism:promoter:c. -159C>T (human)
RGD
PMID:19222419
RGD:4144798
NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851
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Cd274
CD274 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20488241 PMID:23624239
NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
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Cd40lg
CD40 ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Clec4a3
C-type lectin domain family 4, member a3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23624239
NCBI chr 6:122,929,474...122,946,837
Ensembl chr 6:122,929,474...122,946,834
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Commd1
COMM domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22216203
NCBI chr11:22,849,728...22,934,539
Ensembl chr11:22,846,136...22,932,382
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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Cxcl1
C-X-C motif chemokine ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
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Cxcl15
C-X-C motif chemokine ligand 15
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Cxcl3
C-X-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 5:90,933,960...90,935,952
Ensembl chr 5:90,933,962...90,937,459
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19022366
NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
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Cysltr1
cysteinyl leukotriene receptor 1
severity
ISO
DNA:SNP: :927T>C (human)
RGD
PMID:16776674
RGD:4782072
NCBI chr X:105,617,952...105,647,329
Ensembl chr X:105,617,952...105,647,285
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Dsg1a
desmoglein 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23974871
NCBI chr18:20,443,982...20,476,407
Ensembl chr18:20,443,868...20,476,407
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Fcgr4
Fc receptor, IgG, low affinity IV
treatment
ISO
associated with Purpura, Thrombocytopenic, Idiopathic
RGD
PMID:22025730
RGD:11352264
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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Foxp3
forkhead box P3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27965764
NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484
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Gstm1
glutathione S-transferase, mu 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:16580705
RGD:5490996
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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Gstp1
glutathione S-transferase, pi 1
susceptibility
ISO
DNA:polymorphism:exon:p.I105V (rs1695) (human)
RGD
PMID:20526719
RGD:5133266
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms (human)
CTD RGD
PMID:8725357 PMID:15853900 PMID:10202362 PMID:16112029
RGD:5147651 , RGD:5147866 , RGD:5147826
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms (human)
CTD RGD
PMID:8725357 PMID:20684489 PMID:10202362 PMID:16112029 PMID:10689122 PMID:15853900 More...
RGD:5147606 , RGD:5147866 , RGD:5147826 , RGD:5147814 , RGD:5147651
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Ea
histocompatibility 2, class II antigen E alpha
ISO
RGD
PMID:9104792
RGD:5490205
NCBI chr17:34,560,926...34,563,619
Ensembl chr17:34,560,926...34,563,618
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H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms (human)
CTD RGD
PMID:8725357 PMID:15853900 PMID:16112029 PMID:10689122
RGD:5147651 , RGD:5147826 , RGD:5147814
NCBI 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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23541086
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
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Icam1
intercellular adhesion molecule 1
ISO
associated with Giardiasis;protein:increased expression:serum
RGD
PMID:7524984 PMID:15587302
RGD:8158114 , RGD:8547689
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
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:10886234 PMID:21625544
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Il13
interleukin 13
ISO
DNA:SNP:promoter, 3' utr:-1055C>T, 4738G>A (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21625544 PMID:11588017
RGD:4765128
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il16
interleukin 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23624239
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il18
interleukin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1r1
interleukin 1 receptor, type I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417
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Il1r2
interleukin 1 receptor, type II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 1:40,123,872...40,164,390
Ensembl chr 1:40,113,239...40,164,391
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Il2
interleukin 2
IMP
RGD
PMID:21509781
RGD:5147912
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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Il2rb
interleukin 2 receptor, beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr15:78,363,456...78,396,569
Ensembl chr15:78,363,456...78,379,471
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16095146 PMID:21625544
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Il5ra
interleukin 5 receptor, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Il6st
interleukin 6 signal transducer
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr13:112,600,604...112,643,394
Ensembl chr13:112,600,604...112,646,620
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Itgb2
integrin beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
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Kng1
kininogen 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11160071
NCBI chr16:22,876,970...22,900,828
Ensembl chr16:22,876,615...22,900,828
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Lta
lymphotoxin A
ISO
DNA:polymorphism, haplotype associated with Nasal Polyps
RGD
PMID:11591192 PMID:22545387
RGD:8548785 , RGD:8548802
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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Map2k6
mitogen-activated protein kinase kinase 6
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21544193
NCBI chr11:110,289,928...110,416,348
Ensembl chr11:110,289,948...110,416,348
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Mif
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
ISO
DNA:polymorphisms:promoter:
RGD
PMID:14962818
RGD:4891046
NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16766537
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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Mylk
myosin, light polypeptide kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15621374
NCBI chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790
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Pf4
platelet factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 5:90,920,362...90,921,242
Ensembl chr 5:90,920,294...90,921,242
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Ppbp
pro-platelet basic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23624239
NCBI chr 5:90,916,377...90,917,922
Ensembl chr 5:90,916,377...90,917,922
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Selp
selectin, platelet
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12929084
NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595
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Spp1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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Tac1
tachykinin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11160071
NCBI chr 6:7,555,061...7,562,978
Ensembl chr 6:7,554,879...7,565,834
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Tap1
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
ISO
DNA:polymorphism, haplotype: :p.V333I (human)
RGD
PMID:11591192
RGD:8548785
NCBI chr17:34,406,530...34,416,199
Ensembl chr17:34,406,527...34,416,199
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19138248 PMID:21625544
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16095146 PMID:21625544
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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Tnfrsf1b
tumor necrosis factor receptor superfamily, member 1b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625544
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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H2-M2
histocompatibility 2, M region locus 2
ISO
ClinVar Annotator: match by term: Abacavir hypersensitivity
ClinVar
PMID:11888582 PMID:11943262 PMID:12462283 PMID:15024131 PMID:15247624 PMID:15247625 PMID:18256392 PMID:19483685 More...
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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Cxcl15
C-X-C motif chemokine ligand 15
treatment
ISO
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
C-C motif chemokine ligand 26
treatment
IDA
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
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
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
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
DNA:polymorphism:
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
DNA:polymorphism:
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
RGD
PMID:17889290
RGD:40902975
NCBI chr14:55,170,152...55,173,294
Ensembl chr14:55,170,152...55,173,294
G
Trem1
triggering receptor expressed on myeloid cells 1
exacerbates
IEP IDA
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
C-C motif chemokine ligand 17
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
G
Ccr1
C-C motif chemokine receptor 1
IMP
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
C-C motif chemokine receptor 2
IMP
RGD
PMID:10946288
RGD:8661731
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
G
Cftr
cystic fibrosis transmembrane conductance regulator
ISO
DNA:mutations: :
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
associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human)
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
associated with cystic fibrosis; DNA:polymorphisms: :
RGD
PMID:23278646
RGD:36049760
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
G
Icam1
intercellular adhesion molecule 1
IEP
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
IEP
RGD
PMID:8699818
RGD:7794730
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
G
Mbl2
mannose-binding lectin (protein C) 2
susceptibility
ISO
Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human) DNA:SNP:intron:1011G>A(human)
RGD
PMID:11474427 PMID:16487239
RGD:4889577 , RGD:8693711
NCBI 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 IMP
DNA:SNP:promoter:g.-1237T>C rs5743836 (human)
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
IEP
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
DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human)
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
C-C motif chemokine ligand 11
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
G
Ccl2
C-C motif chemokine ligand 2
IMP
RGD
PMID:19553621
RGD:8548840
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
G
Ccl5
C-C motif chemokine ligand 5
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
C-C motif chemokine ligand 7
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
C-C motif chemokine receptor 3
IMP
RGD
PMID:18658092
RGD:6893389
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
G
Icam1
intercellular adhesion molecule 1
ISO
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
ISO IMP
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
ISO
associated with Allergic Rhinitis;DNA:SNPs, haplotype:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human)
RGD
PMID:9191598 PMID:22023794
RGD:8549533 , RGD:8549595
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il1b
interleukin 1 beta
treatment
IEP
RGD
PMID:9326725
RGD:7401198
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Il1rn
interleukin 1 receptor antagonist
treatment
ISO
human protein in a mouse model
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
associated with rhinitis; DNA:SNP: : rs2107356 (human)
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
ISO
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
ISO
protein:increased phosphorylation:T cell
RGD
PMID:14507881
RGD:1600225
NCBI chr 4:129,442,142...129,467,415
Ensembl chr 4:129,442,137...129,467,434
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Muc1
mucin 1, transmembrane
severity
ISO
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
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
RGD
PMID:17177679 PMID:11581187
RGD:7349351 , RGD:7349400
NCBI chr16:32,555,089...32,602,786
Ensembl chr16:32,555,015...32,602,754
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Pla2g2a
phospholipase A2, group IIA (platelets, synovial fluid)
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
RGD
PMID:16914468
RGD:11041889
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
G
Tlr2
toll-like receptor 2
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
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
G
Tlr9
toll-like receptor 9
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
ISO
DNA:SNPs: :multiple (human)
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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Abca6
ATP-binding cassette, sub-family A member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr11:110,065,464...110,142,811
Ensembl chr11:110,067,646...110,142,602
G
Asrgl1
asparaginase like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr19:9,089,083...9,112,930
Ensembl chr19:9,087,232...9,113,000
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Bcl2
B cell leukemia/lymphoma 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Bmp6
bone morphogenetic protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr13:38,529,098...38,684,283
Ensembl chr13:38,529,083...38,684,278
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Calcrl
calcitonin receptor-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr 2:84,160,970...84,255,786
Ensembl chr 2:84,160,970...84,255,755
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Casp8
caspase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662
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Ccl17
C-C motif chemokine ligand 17
IEP
RGD
PMID:15491423
RGD:1626251
NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664
G
Ccl19
C-C motif chemokine ligand 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17597826
NCBI chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577
G
Ccl5
C-C motif chemokine ligand 5
IEP
protein:increased expression:ear (mouse)
RGD
PMID:15491423
RGD:1626251
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:18844696
RGD:5688176
NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
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Ccr2
C-C motif chemokine receptor 2
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17374397 PMID:10899907
RGD:8661227
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
G
Ccr3
C-C motif chemokine receptor 3
IDA
RGD
PMID:22075493
RGD:6892916
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
G
Ccr5
C-C motif chemokine receptor 5
ISO
mRNA:increased expression:skin, lymph node (rat)
RGD
PMID:16977379
RGD:2325935
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Cd36
CD36 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
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Cd3d
CD3 antigen, delta polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17597826
NCBI chr 9:44,893,067...44,898,350
Ensembl chr 9:44,893,084...44,898,637
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Cidec
cell death-inducing DFFA-like effector c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr 6:113,401,595...113,412,721
Ensembl chr 6:113,401,595...113,412,721
G
Cish
cytokine inducible SH2-containing protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 9:107,173,858...107,179,983
Ensembl chr 9:107,173,225...107,179,983
G
Cntn3
contactin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17597826
NCBI chr 6:102,140,265...102,541,575
Ensembl chr 6:102,139,616...102,550,062
G
Crem
cAMP responsive element modulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr18:3,263,181...3,337,688
Ensembl chr18:3,266,048...3,337,748
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Ctsc
cathepsin C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr 7:87,927,233...87,960,083
Ensembl chr 7:87,927,293...87,960,096
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Cxcl2
C-X-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23178550
NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11312644 PMID:19022366
NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
G
Emb
embigin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr13:117,357,109...117,410,951
Ensembl chr13:117,345,072...117,410,951
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Ets2
E26 avian leukemia oncogene 2, 3' domain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr16:95,503,274...95,522,093
Ensembl chr16:95,502,942...95,522,095
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F13a1
coagulation factor XIII, A1 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr13:37,051,150...37,234,220
Ensembl chr13:37,051,152...37,234,220
G
Fgl2
fibrinogen-like protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr 5:21,577,671...21,583,384
Ensembl chr 5:21,577,640...21,583,372
G
Flt1
FMS-like tyrosine kinase 1
ISO
mRNA:protein:skin:
RGD
PMID:7876550
RGD:7421586
NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821
G
Fyb1
FYN binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr15:6,552,280...6,695,089
Ensembl chr15:6,552,334...6,692,794
G
Grk2
G protein-coupled receptor kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr19:4,336,029...4,356,356
Ensembl chr19:4,336,029...4,356,250
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Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 1:192,903,917...192,946,345
Ensembl chr 1:192,903,942...192,946,383
G
Ifi30
interferon gamma inducible protein 30
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17597826
NCBI chr 8:71,215,418...71,219,307
Ensembl chr 8:71,215,419...71,219,307
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11312644 PMID:12484431 PMID:15347381
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
G
Igsf6
immunoglobulin superfamily, member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 7:120,663,290...120,673,753
Ensembl chr 7:120,663,290...120,673,795
G
Il10
interleukin 10
treatment
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15347381 PMID:23760007
RGD:7364806
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
G
Il18
interleukin 18
treatment
IEP ISO IMP
mRNA:increased expression:skin CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27585668 PMID:9781803 PMID:12874202
RGD:8655902 , RGD:8655940
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il18bp
interleukin 18 binding protein
treatment
ISO
RGD
PMID:12874202
RGD:8655940
NCBI chr 7:101,664,281...101,669,699
Ensembl chr 7:101,664,092...101,667,897
G
Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23178550
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
G
Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11312644 PMID:22245253
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
G
Il2ra
interleukin 2 receptor, alpha chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004
G
Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12484431 PMID:21804303
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
G
Il5
interleukin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15347381
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
G
Ipcef1
interaction protein for cytohesin exchange factors 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr10:6,835,779...6,973,185
Ensembl chr10:6,835,796...7,002,478
G
Itgam
integrin alpha M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
G
Jam2
junction adhesion molecule 2
IMP
RGD
PMID:16297198
RGD:7488919
NCBI chr16:84,571,011...84,623,268
Ensembl chr16:84,571,011...84,622,816
G
Jam3
junction adhesion molecule 3
IMP
RGD
PMID:16297198
RGD:7488919
NCBI chr 9:27,008,680...27,066,739
Ensembl chr 9:27,008,680...27,066,717
G
Kdr
kinase insert domain protein receptor
ISO
mRNA:protein:skin:
RGD
PMID:7876550
RGD:7421586
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
G
Kmo
kynurenine 3-monooxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 1:175,459,759...175,488,419
Ensembl chr 1:175,447,947...175,489,682
G
Mc1r
melanocortin 1 receptor
IEP
RGD
PMID:20126537
RGD:5687319
NCBI chr 8:124,133,839...124,137,483
Ensembl chr 8:124,133,846...124,137,483
G
Meox1
mesenchyme homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr11:101,768,336...101,785,309
Ensembl chr11:101,768,336...101,785,200
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Mir155
microRNA 155
treatment
ISO
RGD
PMID:29404871
RGD:21079472
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
G
Mir21a
microRNA 21a
treatment
ISO
RGD
PMID:29282578
RGD:41404666
NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
G
Mki67
antigen identified by monoclonal antibody Ki 67
IDA
RGD
PMID:21294775
RGD:6483538
NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090
G
Mmp3
matrix metallopeptidase 3
ISO IMP
mRNA:increased expression:skin, lymph node
RGD
PMID:16977379 PMID:10359808
RGD:2325935 , RGD:8693317
NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975
G
Mmp9
matrix metallopeptidase 9
ISO IMP
mRNA:increased expression:skin, lymph node
RGD
PMID:16977379 PMID:10359808 PMID:10415717
RGD:2325935 , RGD:8693317 , RGD:8547869
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
G
Mrc1
mannose receptor, C type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 2:14,234,225...14,336,834
Ensembl chr 2:14,234,203...14,336,868
G
Mxd1
MAX dimerization protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr 6:86,624,026...86,646,099
Ensembl chr 6:86,624,024...86,646,143
G
Nampt
nicotinamide phosphoribosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr12:32,870,334...32,903,368
Ensembl chr12:32,869,544...32,903,348
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Nat1
N-acetyl transferase 1
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:19663877
RGD:8552666
NCBI chr 8:67,943,620...67,945,183
Ensembl chr 8:67,933,573...67,944,756
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Nat2
N-acetyltransferase 2 (arylamine N-acetyltransferase)
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:16533241
RGD:8552663
NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236
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Nfe2l2
nuclear factor, erythroid derived 2, like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23564646
NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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Ninj1
ninjurin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr13:49,341,005...49,349,727
Ensembl chr13:49,340,961...49,349,720
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Numa1
nuclear mitotic apparatus protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 7:101,583,169...101,664,166
Ensembl chr 7:101,583,318...101,664,171
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Ogg1
8-oxoguanine DNA-glycosylase 1
IMP
RGD
PMID:15677345
RGD:8657146
NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029
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Phlda1
pleckstrin homology like domain, family A, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr10:111,342,147...111,344,510
Ensembl chr10:111,342,147...111,344,506
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Pim1
proviral integration site 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr17:29,709,759...29,715,085
Ensembl chr17:29,709,727...29,715,086
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Plat
plasminogen activator, tissue
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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Prdx4
peroxiredoxin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr X:154,106,914...154,125,268
Ensembl chr X:154,106,914...154,123,750
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Qpct
glutaminyl-peptide cyclotransferase (glutaminyl cyclase)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr17:79,359,335...79,397,807
Ensembl chr17:79,359,335...79,397,807
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Rab32
RAB32, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr10:10,420,783...10,433,951
Ensembl chr10:10,420,746...10,434,009
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Rgs1
regulator of G-protein signaling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr 1:144,120,407...144,124,862
Ensembl chr 1:144,118,034...144,124,980
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Sat1
spermidine/spermine N1-acetyl transferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr X:153,996,128...153,999,345
Ensembl chr X:153,996,128...153,999,445
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Sele
selectin, endothelial cell
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17597826
NCBI chr 1:163,867,200...163,886,056
Ensembl chr 1:163,875,773...163,885,246
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Slc2a3
solute carrier family 2 (facilitated glucose transporter), member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr 6:122,704,783...122,779,149
Ensembl chr 6:122,704,768...122,778,599
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Slc7a5
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17374397
NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
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Socs1
suppressor of cytokine signaling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400
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Socs2
suppressor of cytokine signaling 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr10:95,219,765...95,253,176
Ensembl chr10:95,221,224...95,253,042
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Spp1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14555839
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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St6gal1
beta galactoside alpha 2,6 sialyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr16:23,043,478...23,179,100
Ensembl chr16:23,043,490...23,179,100
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Stac
src homology three (SH3) and cysteine rich domain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr 9:111,386,476...111,519,673
Ensembl chr 9:111,390,505...111,519,416
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Tap2
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
susceptibility
ISO
RGD
PMID:9303338
RGD:6482276
NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295
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Tlr4
toll-like receptor 4
ISO IMP
RGD
PMID:20711192 PMID:18725520
RGD:7777133 , RGD:7794737
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tlr7
toll-like receptor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr X:166,086,376...166,113,570
Ensembl chr X:166,087,925...166,113,554
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Tmsb10
thymosin beta 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17597826
NCBI chr 6:72,934,330...72,935,731
Ensembl chr 6:72,934,330...72,935,731
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15849067
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404 PMID:17374397
NCBI chr 2:51,928,125...51,946,693
Ensembl chr 2:51,928,021...51,946,698
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Tslp
thymic stromal lymphopoietin
treatment
IEP
RGD
PMID:30187507
RGD:38596345
NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850
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Upp1
uridine phosphorylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033404
NCBI chr11:9,068,008...9,086,170
Ensembl chr11:9,068,103...9,086,170
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Vegfa
vascular endothelial growth factor A
ISO
mRNA:protein:skin:
RGD
PMID:7876550 PMID:7876550
RGD:7421586 , RGD:7421586
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Csf3
colony stimulating factor 3 (granulocyte)
treatment
ISO
associated with Severe Congenital Neutropenia;
RGD
PMID:20100783
RGD:11039037
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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Abcb1a
ATP-binding cassette, sub-family B member 1A
severity
ISO
DNA:snp:exon:c.1236C>T (human)
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
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
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29028686
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Ccl11
C-C motif chemokine ligand 11
treatment
ISO
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
C-C motif chemokine ligand 26
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
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
ISO
protein:increased expression:lymphocyte
RGD
PMID:19086656
RGD:8547782
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cldn3
claudin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33441633
NCBI chr 5:135,015,068...135,016,330
Ensembl chr 5:135,015,068...135,016,326
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Cldn7
claudin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33441633
NCBI chr11:69,855,605...69,858,712
Ensembl chr11:69,855,605...69,858,711
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
treatment
IDA
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
ISO
protein:increased expression:nasal mucus
RGD
PMID:21711961
RGD:5147783
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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Fcgr4
Fc receptor, IgG, low affinity IV
susceptibility
ISO
DNA:polymorphism:exon:p.F158V(rs396991)(human)
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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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
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H2-M3
histocompatibility 2, M region locus 3
ISO
RGD
PMID:20487636
RGD:5144132
NCBI chr17:37,581,094...37,585,380
Ensembl chr17:37,581,111...37,585,375
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36127783
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
G
Hrh1
histamine receptor H1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23333628
NCBI chr 6:114,374,897...114,459,432
Ensembl chr 6:114,374,897...114,460,257
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Ifng
interferon gamma
treatment
ISO
associated with Asthma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29871060 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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Il10
interleukin 10
treatment
ISO IDA
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:36127783 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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Il13
interleukin 13
susceptibility no_association
ISO
DNA:polymorphism:exon:c. 2044G>A (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.R130Q (rs20541) (human) DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) DNA:SNP:promoter:-1512A>C (rs1881457) (human)
CTD OMIM RGD
PMID:17091279 PMID:22852128 PMID:12928861 PMID:23996716
RGD:4152796 , RGD:8549518 , RGD:8549516 , RGD:8549501
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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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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Il17a
interleukin 17A
susceptibility
ISO
DNA:snp:promoter:c.-444A>G (human) mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:22507625 PMID:21535180
RGD:9068429 , RGD:5147409
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il18
interleukin 18
severity no_association
ISO
DNA:SNP:promoter:-137G>C (rs187238) (human) DNA:SNP:promoter:-140C>G (rs360721) (human)
RGD
PMID:22840759 PMID:22840759
RGD:8655914 , RGD:8655914
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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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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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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Il4
interleukin 4
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:36127783 PMID:9893928 PMID:24620662 PMID:8908280 PMID:14653048
RGD:7829796 , RGD:11522769 , RGD:7829827 , RGD:7829802
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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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
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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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Mrc1
mannose receptor, C type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36127783
NCBI chr 2:14,234,225...14,336,834
Ensembl chr 2:14,234,203...14,336,868
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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
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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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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
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Ocln
occludin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33441633
NCBI chr13:100,633,012...100,689,226
Ensembl chr13:100,633,015...100,689,226
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Pon1
paraoxonase 1
severity
ISO
protein:decreased activity:plasma (human)
RGD
PMID:23406590
RGD:8547583
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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Prkg1
protein kinase, cGMP-dependent, type I
ISO
protein:increased expression:nasal cavity epithelium
RGD
PMID:24012634
RGD:7775060
NCBI chr19:30,541,887...31,742,675
Ensembl chr19:30,541,889...31,742,433
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16979129
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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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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Scgb3a2
secretoglobin, family 3A, member 2
susceptibility
ISO
DNA:SNP: :rs7726552 (human)
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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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
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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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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Tlr2
toll-like receptor 2
severity
ISO IDA
DNA:polymorphism:cds:p.R753Q(human) protein:increased expression:neutrophil: mRNA:decreased expression:nasal mucosa:
RGD
PMID:22402138 PMID:22555057 PMID:18381801 PMID:18219831
RGD:7800732 , RGD:8552993 , RGD:8552972 , RGD:7800742
NCBI chr 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
severity treatment susceptibility no_association
ISO
DNA:polymorphism:cds:p.D299G(human) protein:increased expression:nasal lavage,leukocyte, bone marrow: protein:decreased expression:nasal mucosa: DNA:SNP: :rs1927911(human) DNA:polymorphism: :4216G>C(human)
RGD
PMID:22402138 PMID:22555057 PMID:22577387 PMID:17069098 PMID:23639307 PMID:19763595 More...
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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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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Cyp2c38
cytochrome P450, family 2, subfamily c, polypeptide 38
treatment
ISO
associated with Eosinophilic Esophagitis; DNA:polymorphisms::
RGD
PMID:26416193
RGD:11352743
NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519
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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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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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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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Agt
angiotensinogen
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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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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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
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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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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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...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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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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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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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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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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Kng1
kininogen 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7623993
NCBI chr16:22,876,970...22,900,828
Ensembl chr16:22,876,615...22,900,828
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Ltb4r1
leukotriene B4 receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10934231
NCBI chr14:56,002,154...56,005,951
Ensembl chr14:56,003,419...56,005,951
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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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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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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO IMP
RGD
PMID:18480553 PMID:17822719
RGD:2300247 , RGD:1642600
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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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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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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Cfd
complement factor D
ISO
RGD
PMID:10605043
RGD:1624328
NCBI chr10:79,726,687...79,728,489
Ensembl chr10:79,726,687...79,728,489
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Cx3cr1
C-X3-C motif chemokine receptor 1
IMP
RGD
PMID:23470165
RGD:9068463
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
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Fcgr3
Fc receptor, IgG, low affinity III
treatment
ISO
RGD
PMID:10762218
RGD:9588604
NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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Ager
advanced glycosylation end product-specific receptor
ISO
DNA:SNP:promoter:-374T>A (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Ccl19
C-C motif chemokine ligand 19
IEP
associated with Neutropenia;mRNA:increased expression:lung
RGD
PMID:19783686
RGD:5130908
NCBI chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577
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Ccr7
C-C motif chemokine receptor 7
IMP
associated with Neutropenia
RGD
PMID:19783686
RGD:5130908
NCBI chr11:99,035,025...99,045,903
Ensembl chr11:99,035,022...99,045,903
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Cd209d
CD209d antigen
ISO
RGD
PMID:21381282
RGD:5131183
NCBI chr 8:3,921,824...3,928,548
Ensembl chr 8:3,921,824...3,928,555
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Cftr
cystic fibrosis transmembrane conductance regulator
severity
IMP
RGD
PMID:22135344
RGD:35673332
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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Clec1a
C-type lectin domain family 1, member a
susceptibility
ISO
ClinVar Annotator: match by term: Aspergillosis, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:29489751
NCBI chr 6:129,403,647...129,428,963
Ensembl chr 6:129,401,735...129,428,963
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Clec7a
C-type lectin domain family 7, member a
susceptibility
ISO
ClinVar Annotator: match by term: Aspergillosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868
NCBI chr 6:129,438,554...129,449,748
Ensembl chr 6:129,438,554...129,449,742
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Crp
C-reactive protein, pentraxin-related
treatment
ISO
RGD
PMID:20879853
RGD:9495929
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Il15
interleukin 15
ISO
DNA:polymorphism (human)
RGD
PMID:16893395
RGD:4981337
NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
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Mbl1
mannose-binding lectin (protein A) 1
susceptibility
IMP
RGD
PMID:20064561
RGD:8694071
NCBI chr14:40,873,413...40,885,861
Ensembl chr14:40,873,415...40,881,558
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Mbl2
mannose-binding lectin (protein C) 2
susceptibility
IMP
RGD
PMID:20064561
RGD:8694071
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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S100b
S100 protein, beta polypeptide, neural
ISO
DNA:SNP: :427C>T (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
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Tlr1
toll-like receptor 1
susceptibility
ISO
DNA:SNPs: :p.R80T, p.N248S (human)
RGD
PMID:16461792
RGD:4889535
NCBI chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906
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Tlr2
toll-like receptor 2
IEP
mRNA:increased expression:lung
RGD
PMID:19781388
RGD:4145322
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr6
toll-like receptor 6
susceptibility
ISO
DNA:SNP: :p.S249P (human)
RGD
PMID:16461792
RGD:4889535
NCBI chr 5:65,109,373...65,128,387
Ensembl chr 5:65,109,374...65,117,440
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Cacng6
calcium channel, voltage-dependent, gamma subunit 6
susceptibility
ISO
DNA:SNP,haplotype:rs192808(human)
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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Ccr3
C-C motif chemokine 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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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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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 chr14:73,263,043...73,286,554
Ensembl chr14:73,263,043...73,286,554
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Fancc
Fanconi anemia, complementation group C
ISO
DNA:haplotype::rs4647416(human)
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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H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
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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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
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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H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
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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Il4
interleukin 4
susceptibility
ISO
DNA:SNPs:promoter,5'UTR,intron:multiple
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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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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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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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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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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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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Ptgir
prostaglandin I receptor (IP)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr 7:16,640,442...16,644,828
Ensembl chr 7:16,640,415...16,644,830
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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 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Tap2
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
ISO
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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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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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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Abcb1a
ATP-binding cassette, sub-family B 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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Abcc1
ATP-binding cassette, sub-family C 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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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
no_association
ISO
RGD
PMID:16008680 PMID:19771478
RGD:5128831 , RGD:5128835
NCBI chr 2:26,732,508...26,754,973
Ensembl chr 2:26,732,515...26,754,991
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Ace
angiotensin I converting enzyme
susceptibility
ISO
DNA:polymorphism (human)
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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Acsl3
acyl-CoA synthetase long-chain family member 3
ISO
DNA:hypermethylation:promoter
RGD
PMID:19221603
RGD:13831295
NCBI chr 1:78,635,600...78,685,462
Ensembl chr 1:78,635,542...78,685,460
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Ada
adenosine deaminase
susceptibility
ISO
DNA:polymorphisms (human)
RGD
PMID:16754522
RGD:5128848
NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159
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Adam33
a disintegrin and metallopeptidase domain 33
susceptibility no_association disease_progression
ISO IEP
DNA:SNPs: :multiple (human) 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)
RGD GAD
PMID:18778489 PMID:15118671 PMID:16893396 PMID:17339047 PMID:17961406 PMID:19635592 PMID:19940503 More...
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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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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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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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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Adh5
alcohol dehydrogenase 5 (class III), chi polypeptide
susceptibility
ISO IMP
protein:increased expression:respiratory system fluid/secretion DNA:SNPs: :rs1154404, rs28730619 (human)
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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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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Adora1
adenosine A1 receptor
ISO IMP
DNA:SNPs: :1405C>T (human) protein:increased expression:bronchus
RGD
PMID:19019667 PMID:20400685 PMID:17959644
RGD:4890386 , RGD:4145444 , RGD:5129097
NCBI chr 1:134,126,953...134,163,195
Ensembl chr 1:134,126,963...134,163,169
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Adora2a
adenosine A2a receptor
ISO IEP IDA IMP
DNA:SNP (human) mRNA:decreased expression:aorta
RGD
PMID:19019667 PMID:18310516 PMID:16339780 PMID:17293374
RGD:4890386 , RGD:4890366 , RGD:4890385 , RGD:4890380
NCBI chr10:75,152,711...75,170,626
Ensembl chr10:75,152,711...75,170,618
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Adrb2
adrenergic receptor, beta 2
susceptibility
ISO IMP
ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to DNA:SNP: :-1023A>G (human) DNA:SNPs: :p.R16G, p.Q27E (human) DNA:polymorphism: :p.R16G (human) DNA:SNPs:promoter:multiple (human) DNA:SNP: :p.Q27E (human)
ClinVar 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...
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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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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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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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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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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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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Alox5
arachidonate 5-lipoxygenase
no_association 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)
OMIM CTD RGD
PMID:20128419 PMID:10369259 PMID:9642160 PMID:12911785 PMID:8879219 PMID:11035107 PMID:19033731 PMID:16364163 PMID:18204779 PMID:17394438 More...
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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Alox5ap
arachidonate 5-lipoxygenase activating protein
susceptibility no_association
ISO IMP IEP
DNA:SNP: :rs10507391 (human) mRNA:increased expression:blood, leukocyte DNA:repeat:promoter:-169(A)21 (human) DNA:substitution, repeat:promoter:-336G>A, -169(A)19-23 (human) DNA:polymorphisms:intron:IVS2+12C>A, IVS2+105T>C (human) protein:increased expression:lung DNA:polymorphism:promoter (human) DNA:SNPs (human)
RGD
PMID:20067482 PMID:9642160 PMID:10527888 PMID:12911785 PMID:15784112 PMID:8879219 PMID:11035107 PMID:20128419 PMID:18547289 More...
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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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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Ang
angiogenin, ribonuclease, RNase A family, 5
severity
ISO
protein:increased expression:sputum
RGD
PMID:16478840
RGD:6892719
NCBI chr14:51,328,607...51,339,462
Ensembl chr14:51,328,607...51,339,466
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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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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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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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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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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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Bdkrb2
bradykinin receptor, beta 2
onset
ISO
DNA:polymorphism:exon (human) protein:increased expression:blood, eosinophil
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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Bdnf
brain derived neurotrophic factor
susceptibility severity
ISO
protein:decreased expression:blood, eosinophil DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human) DNA:polymorphisms: :p.V66M, -270C>T (human) protein:increased expression:plasma DNA:polymorphisms: :p.V66M (rs6265) (human)
RGD
PMID:12752594 PMID:21723144 PMID:17584309 PMID:20874832 PMID:19895626 PMID:11737043 More...
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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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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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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Bmpr2
bone morphogenetic protein receptor type 2
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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C3
complement component 3
severity
IMP ISO IEP
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)
RGD
PMID:11591733 PMID:20589464 PMID:18566738 PMID:15278436 PMID:20802484 PMID:20402389 PMID:20395963 PMID:16355111 More...
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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C3ar1
complement component 3a receptor 1
severity
ISO IMP IEP
mRNA:increased expression:lung protein:increased expression:lung, leukocyte
RGD
PMID:15278436 PMID:20802484 PMID:20045013 PMID:17544263 PMID:15940127 PMID:17544263 More...
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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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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Card11
caspase recruitment domain family, member 11
susceptibility
IMP ISO
ClinVar Annotator: match by term: Asthma
ClinVar RGD
PMID:18323416 PMID:23027925 PMID:23129749 PMID:25352053 PMID:25741868 PMID:26861442 PMID:28492532 PMID:28824638 PMID:29472930 PMID:16751370 More...
RGD:11100037
NCBI chr 5:140,858,109...140,986,398
Ensembl chr 5:140,858,745...140,986,337
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Carm1
coactivator-associated arginine methyltransferase 1
ISO
mRNA:decreased expression:lung
RGD
PMID:20423833
RGD:9491823
NCBI chr 9:21,458,163...21,500,763
Ensembl chr 9:21,458,190...21,503,919
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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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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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Ccl1
C-C motif chemokine 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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Ccl11
C-C motif chemokine ligand 11
treatment susceptibility severity
ISO IEP IMP
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism DNA:polymorphism: :p.A23T (human) mRNA:increased expression:lung
OMIM CTD RGD
PMID:16304252 PMID:22932891 PMID:17074272 PMID:17845580 PMID:20704746 PMID:18250471 PMID:9034156 PMID:17060636 More...
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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Ccl17
C-C motif chemokine 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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Ccl19
C-C motif chemokine ligand 19
ISO
protein:increased expression:bronchus submucosa, mast cell
RGD
PMID:16959919
RGD:5130911
NCBI chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577
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Ccl2
C-C motif chemokine 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...
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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Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:respiratory system fluid/secretion associated with Allergic Rhinitis;protein:increased expression:serum
RGD
PMID:18422729 PMID:22469443
RGD:7483597 , RGD:7483618
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Ccl22
C-C motif chemokine 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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Ccl24
C-C motif chemokine ligand 24
susceptibility
ISO IMP
DNA:SNPs: :179T>C, 275C>T (human) DNA:SNPs: :304C>A, 1272A>G (human) protein:increased expression:respiratory system fluid/secretion DNA:SNP: :1265A>G (human) protein:increased expression:plasma
RGD
PMID:15207712 PMID:17548626 PMID:18712274 PMID:12952266 PMID:12761043 PMID:17060636 PMID:16304252 More...
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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Ccl26
C-C motif chemokine ligand 26
treatment
ISO IDA
protein:increased expression:plasma DNA:SNPs: :77C>T, 2497T>G (human) DNA:SNPs: :77C>T, 716A>G, 1579G>A (human)
RGD
PMID:16304252 PMID:25399816 PMID:25530546 PMID:15207712 PMID:18712274
RGD:5130930 , RGD:11087575 , RGD:11081163 , RGD:4891495 , RGD:4891483
NCBI chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
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Ccl27a
C-C motif chemokine 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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Ccl28
C-C motif chemokine 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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Ccl4
C-C motif chemokine 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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Ccl5
C-C motif chemokine 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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Ccl7
C-C motif chemokine 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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Ccr1
C-C motif chemokine 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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Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO IEP
DNA:SNP:cds:p.V64I (human) DNA:haplotype:cds:p.V64I(human) protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:17298432 PMID:23454776 PMID:19917684
RGD:4145110 , RGD:8551842 , RGD:8549811
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Ccr3
C-C motif chemokine receptor 3
IMP ISO IDA
protein:increased expression:respiratory system fluid/secretion, neutrophil DNA:SNP:exon:51T>C (human)
RGD
PMID:18699933 PMID:19017998 PMID:17145927 PMID:16978084 PMID:20220260 PMID:19657453 PMID:20134116 More...
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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Ccr4
C-C motif chemokine 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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Ccr5
C-C motif chemokine receptor 5
no_association
IMP ISO IEP
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)
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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Ccr6
C-C motif chemokine receptor 6
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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Ccr7
C-C motif chemokine receptor 7
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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Ccr8
C-C motif chemokine 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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Ccr9
C-C motif chemokine 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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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...
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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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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Cd209a
CD209a antigen
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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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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Cd28
CD28 antigen
ISO
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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Cd40
CD40 antigen
treatment
ISO IEP
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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Cd40lg
CD40 ligand
severity
IMP
RGD
PMID:9502776
RGD:11352238
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cd80
CD80 antigen
IEP
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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Cd86
CD86 antigen
treatment
IEP IMP ISO
protein:increased expression:lung, alveolar macrophage (mouse) protein:increased expression:blood, B cell (human) protein:increased expression:lung, dendritic cell (rat) DNA:snp:exon:p.I179V rs2681417 (human)
RGD
PMID:20941750 PMID:25344652 PMID:9449507 PMID:20668438 PMID:9551945 PMID:17513529 More...
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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Cdh1
cadherin 1
ISO
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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Cdhr3
cadherin-related family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24241537
NCBI chr12:33,083,781...33,142,900
Ensembl chr12:33,083,795...33,142,874
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Cftr
cystic fibrosis transmembrane conductance regulator
susceptibility
ISO
DNA:deletion: :p.F508del(human)
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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Chat
choline O-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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Chi3l1
chitinase 3 like 1
susceptibility
ISO
human gene in mouse model ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 7 DNA:snp:5' utr:g.-131C>G rs4950928 (human) protein:increased secretion:serum (human)
OMIM ClinVar RGD
PMID:18403759 PMID:19414556 PMID:19568425 PMID:18003958
RGD:4892663 , RGD:4892630 , RGD:4892632
NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919
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Chia1
chitinase, acidic 1
no_association
ISO IMP IEP
DNA:snps:5' utr, cds:multiple (human) DNA:snps:multiple (human) mRNA:increased expression:lung, epithelial cell (human) mRNA:increased expression:lung (mouse)
RGD
PMID:16179638 PMID:20226308 PMID:19548841 PMID:15192232 PMID:14734765
RGD:4996473 , RGD:5024922 , RGD:5024921 , RGD:4985150 , RGD:4990463
NCBI chr 3:106,020,698...106,039,434
Ensembl chr 3:106,020,545...106,039,436
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Chml
choroideremia-like
ISO
RGD
PMID:18343558
RGD:5133238
NCBI chr 1:175,509,803...175,520,198
Ensembl chr 1:175,509,803...175,520,467
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Chrm1
cholinergic receptor, muscarinic 1, CNS
ISO
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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Chrm2
cholinergic receptor, muscarinic 2, cardiac
ISO
DNA:SNP: :rs6962027 (human)
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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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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Chuk
conserved helix-loop-helix ubiquitous kinase
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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Clca1
chloride channel accessory 1
susceptibility
IMP ISO
DNA:SNPs (human)
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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Cldn18
claudin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27215490
NCBI chr 9:99,572,849...99,599,320
Ensembl chr 9:99,571,514...99,599,320
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Cma1
chymase 1, mast cell
severity susceptibility no_association
ISO
protein:increased expression:lung epithelium, mast cell (human) DNA:duplications:3' utr:g.*254-?dupTG, dupGA (human) DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human)
RGD
PMID:20813890 PMID:15924217 PMID:15248847
RGD:5128804 , RGD:1625396 , RGD:1625397
NCBI chr14:56,178,908...56,182,132
Ensembl chr14:56,178,908...56,182,132
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Crhr1
corticotropin releasing hormone receptor 1
ISO
DNA:SNP: :RS242941 (human) DNA:SNPs: :rs1876828, rs242939, rs242941 (human)
RGD
PMID:19663668 PMID:16113459
RGD:5147485 , RGD:5147488
NCBI chr11:104,021,289...104,066,349
Ensembl chr11:104,023,681...104,066,349
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Crhr2
corticotropin releasing hormone receptor 2
ISO
DNA:SNPs: :multiple (human)
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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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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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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Csf2rb
colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
ISO
RGD
PMID:17145927
RGD:1601020
NCBI chr15:78,210,000...78,235,201
Ensembl chr15:78,209,952...78,238,047
G
Csf2rb2
colony stimulating factor 2 receptor, beta 2, low-affinity (granulocyte-macrophage)
ISO
RGD
PMID:17145927
RGD:1601020
NCBI chr15:78,166,707...78,189,921
Ensembl chr15:78,166,707...78,189,921
G
Csf3
colony stimulating factor 3 (granulocyte)
IEP ISO
protein:increased expression:lung
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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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...
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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Ctnna3
catenin alpha 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19187332
NCBI chr10:63,265,877...64,841,174
Ensembl chr10:63,265,877...64,839,446
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Cx3cl1
C-X3-C motif chemokine 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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Cx3cr1
C-X3-C motif chemokine receptor 1
no_association
IMP ISO
DNA:SNPs: :p.V249I, rs2669849 (human) DNA:polymorphisms: :p.V249I, p.T280M (human)
RGD
PMID:21037587 PMID:17082760 PMID:17505143
RGD:4891882 , RGD:4891895 , RGD:4891904
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
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Cxcl1
C-X-C motif chemokine 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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Cxcl10
C-X-C motif chemokine 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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Cxcl14
C-X-C motif chemokine ligand 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21150878
NCBI chr13:56,436,456...56,444,624
Ensembl chr13:56,436,456...56,444,364
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Cxcl2
C-X-C motif chemokine 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
G
Cxcl3
C-X-C motif chemokine 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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Cxcl5
C-X-C motif chemokine 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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Cxcl9
C-X-C motif chemokine 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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Cxcr3
C-X-C motif chemokine receptor 3
susceptibility severity
IEP ISO
DNA:SNP:intron:IVS1+234G>A (human) protein:decreased expression:respiratory system fluid/secretion, T cell
RGD
PMID:18094012 PMID:16043121 PMID:16548899 PMID:17641057
RGD:4892088 , RGD:5143934 , RGD:5143932 , RGD:5135484
NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
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Cyba
cytochrome b-245, alpha polypeptide
susceptibility
ISO
DNA:polymorphism: :-930A>G (human) DNA:SNPs: :-930A>G, 242C>T, 640A>G (human)
RGD
PMID:19459419 PMID:18716406
RGD:4311041 , RGD:4772770
NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
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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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Cyp2d22
cytochrome P450, family 2, subfamily d, polypeptide 22
ISO
DNA:polymorphism: :1934G>A (human)
RGD
PMID:19575027
RGD:5143944
NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461
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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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Cysltr1
cysteinyl leukotriene receptor 1
no_association severity
ISO IMP
DNA:SNPs:promoter, exon:multiple (human) DNA:SNPs:promoter:-634C>T, -475A>C, -336A>G (human) DNA:SNP: :927T>C (human) mRNA, protein:increased expression:respiratory system mucosa
RGD
PMID:16771777 PMID:16630147 PMID:16776674 PMID:8087328 PMID:11591188 PMID:17153879 PMID:17689528 PMID:16387808 PMID:16123393 More...
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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Cysltr2
cysteinyl leukotriene receptor 2
ISO
DNA:polymorphism: :601A>G (human) DNA:polymorphism: :-1220A>C (human)
RGD
PMID:15475736 PMID:15454733
RGD:5144002 , RGD:5144003
NCBI chr14:73,263,043...73,286,554
Ensembl chr14:73,263,043...73,286,554
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Dcn
decorin
ISO
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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Defb1
defensin beta 1
susceptibility
ISO
DNA:SNP: :-1816 T>C (human) DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human)
RGD
PMID:15696078 PMID:16435024
RGD:4892263 , RGD:4892254
NCBI chr 8:22,266,571...22,285,201
Ensembl chr 8:22,266,615...22,285,201
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Dnah5
dynein, axonemal, heavy chain 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21912604
NCBI chr15:28,155,000...28,472,191
Ensembl chr15:28,203,898...28,472,198
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Dnmt1
DNA methyltransferase 1
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...20,871,084
Ensembl chr 9:20,818,505...20,871,184
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Dpp10
dipeptidylpeptidase 10
ISO
DNA:SNPs (human) DNA:SNP:exon (human) protein:increased expression:bronchus DNA:SNP: :rs10208402 (human)
RGD GAD
PMID:21103062 PMID:15118671 PMID:14566338 PMID:17967935 PMID:19672052
RGD:4889866 , RGD:1331525 , RGD:4892276 , RGD:4892278 , RGD:4892275
NCBI chr 1:123,259,871...124,773,774
Ensembl chr 1:123,249,200...124,773,776
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Ear1
eosinophil-associated, ribonuclease A family, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8874658 PMID:12153692 PMID:12587966
NCBI chr14:44,056,222...44,057,096
Ensembl chr14:44,056,222...44,112,974
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Ebi3
Epstein-Barr virus induced gene 3
IMP
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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Edn1
endothelin 1
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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Ednra
endothelin receptor type A
IMP
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
G
Ednrb
endothelin receptor type B
IMP ISO
DNA:polymorphism (human) mRNA:increased expression:bronchus, smooth muscle cell
RGD
PMID:18632188 PMID:17470272 PMID:15245576
RGD:4892288 , RGD:4892321 , RGD:4892324
NCBI chr14:104,052,055...104,081,764
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
IMP ISO
mRNA:increased expression:bronchoalveolar lavage cell (human) DNA:snp:5' utr:g.-4071A>G rs7729723 (human)
RGD
PMID:11254538 PMID:18774390 PMID:18507785
RGD:5131985 , RGD:5130915 , RGD:5131993
NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037
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Elp1
elongator complex protein 1
no_association
ISO
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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Ephx1
epoxide hydrolase 1, microsomal
susceptibility
ISO
DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
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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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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Esr2
estrogen receptor 2 (beta)
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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F2
coagulation factor II
ISO
protein:increased expression:plasma associated with Rhinosinusitis, associated with Nasal Polyps;protein:increased expression:nasal mucus
RGD
PMID:21658190 PMID:21711961
RGD:5147753 , RGD:5147783
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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F2rl1
F2R like trypsin receptor 1
ISO
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
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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Fas
Fas cell surface death receptor
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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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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Fcgr2b
Fc receptor, IgG, low affinity IIb
IMP
RGD
PMID:20179765
RGD:11344929
NCBI chr 1:170,786,186...170,804,141
Ensembl chr 1:170,786,186...170,804,116
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Fcgr4
Fc receptor, IgG, low affinity IV
susceptibility
ISO
DNA:polymorphism:exon:p.F158V(rs396991)(human)
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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Fga
fibrinogen alpha chain
treatment
ISO
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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Fkbp5
FK506 binding protein 5
ISO
ClinVar Annotator: match by term: Asthma
ClinVar
NCBI chr17:28,617,727...28,705,123
Ensembl chr17:28,618,068...28,736,501
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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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Gata3
GATA binding protein 3
ISO
RGD
PMID:9949310 PMID:18186587
RGD:5128802 , RGD:5128803
NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845
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Gc
vitamin D binding protein
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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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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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
G
Gstm3
glutathione S-transferase, mu 3
ISO
DNA:polymorphism
RGD
PMID:11470996 PMID:17550934
RGD:5135039 , RGD:5135038
NCBI chr 3:107,871,019...107,876,484
Ensembl chr 3:107,871,012...107,876,599
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Gstm5
glutathione S-transferase, mu 5
ISO
DNA:polymorphism
RGD
PMID:11470996 PMID:17550934
RGD:5135038 RGD:5135039
NCBI chr 3:107,803,240...107,806,002
Ensembl chr 3:107,803,137...107,806,002
G
Gsto2
glutathione S-transferase omega 2
susceptibility
ISO
DNA:polymorphism:exon:p. N142D (human)
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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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...
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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Gstt1
glutathione S-transferase, theta 1
susceptibility
ISO
DNA:deletion: :
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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H2-Aa
histocompatibility 2, class II antigen A, alpha
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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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...
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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H2-Ea
histocompatibility 2, class II antigen E alpha
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:20159242
RGD:13506913
NCBI chr17:34,560,926...34,563,619
Ensembl chr17:34,560,926...34,563,618
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...
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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H2-M2
histocompatibility 2, M region locus 2
susceptibility
ISO
DNA:polymorphism:
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-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...37,585,380
Ensembl chr17:37,581,111...37,585,375
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H2-Pa
histocompatibility 2, P region alpha locus
susceptibility
ISO
DNA:polymorphism: :
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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Havcr1
hepatitis A virus cellular receptor 1
ISO
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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Havcr2
hepatitis A virus cellular receptor 2
IMP
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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Hc
hemolytic complement
severity
IEP ISO IAGP
mRNA:decreased expression:lung
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
G
Hdac2
histone deacetylase 2
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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Hdc
histidine decarboxylase
ISO
associated with Rhinitis;DNA:SNP: :p.E644D (rs2073440) (human)
RGD
PMID:20608921
RGD:5128884
NCBI chr 2:126,435,579...126,465,942
Ensembl chr 2:126,435,587...126,461,219
G
Hif1a
hypoxia inducible factor 1, alpha subunit
treatment
IEP
RGD
PMID:18160846
RGD:10402541
NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
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Hmgcr
3-hydroxy-3-methylglutaryl-Coenzyme A reductase
ISO
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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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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Hnmt
histamine N-methyltransferase
no_association
ISO
ClinVar Annotator: match by term: Asthma, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:10752634 PMID:10803682 PMID:16205835 PMID:17651147 PMID:25741868 PMID:15693910 PMID:21040557 PMID:17651147 PMID:10803682 PMID:16205835 More...
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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Hp
haptoglobin
ISO
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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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11932298
NCBI chr 8:106,245,378...106,250,620
Ensembl chr 8:106,245,387...106,250,620
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Htr2a
5-hydroxytryptamine (serotonin) receptor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25322896
NCBI chr14:74,878,314...74,944,299
Ensembl chr14:74,878,280...74,946,934
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Icam1
intercellular adhesion molecule 1
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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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
IAGP ISO
DNA: SNP: Leu467Pro
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22295096
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25256354
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...
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
IMP
RGD
PMID:17056578 PMID:17548618
RGD:4438438 , RGD:4373570
NCBI chr 3:68,597,977...68,605,881
Ensembl chr 3:68,597,977...68,605,880
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Il12b
interleukin 12b
severity susceptibility
ISO
DNA:polymorphisms:introns: ClinVar Annotator: match by term: Asthma, susceptibility to DNA:polymorphisms:promoter, 3'utr: DNA:polymorphism:promoter
ClinVar RGD
PMID:15322986 PMID:15322986 PMID:16210052 PMID:12241719
RGD:1600043 , RGD:4145438 , RGD:4145428
NCBI 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...
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 ISO IMP IEP
DNA:polymorphism: :1398A>G (human) DNA:polymorphisms:promoter, 3' utr:-281T>G, 1365A>G (human) DNA:polymorphism: :1050C>T (human) mRNA:increased expression:bronchus
RGD
PMID:11714828 PMID:17006604 PMID:17392323 PMID:10686479 PMID:18480254 PMID:20383033 More...
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
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 ISO
DNA:SNPs: :multiple (human)
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 ISO
DNA:SNP:promoter:-295T>C (human) protein:increased expression:serum associated with Rhinitis;protein:increased expression:respiratory system fluid/secretion
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 IMP
mRNA,protein:increased expression:Leukocytes, Mononuclear, lung, serum protein:increased expression:sputum protein:increased expression:alveolar macrophage DNA:SNP:promoter:rs2275913 (human)
RGD
PMID:18060619 PMID:20351038 PMID:15730730 PMID:18941201 PMID:20437253
RGD:4839043 , RGD:4888527 , RGD:4889114 , RGD:4889152 , RGD:4889139
NCBI chr 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
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 IMP
DNA:SNPs:Promoter:c. -607C>A (rs1946518), -137G/C (rs187238) (human) DNA:SNP:promoter:c.and -137G>C (rs187238)(human) protein:increased expression:serum DNA:SNP:promoter: c.-380C>G (rs5744247)(human) DNA:polymorphism: :c. -105A>C (human)
RGD
PMID:17767553 PMID:20497957 PMID:16433859 PMID:18826499 PMID:11174201 PMID:20497957 PMID:19745201 PMID:18200581 More...
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
ISO IEP
DNA:SNP: :rs3771166 (human) DNA:SNPs: :multiple (human)
RGD
PMID:19910030 PMID:20860503 PMID:18382474 PMID:11972614 PMID:18774397
RGD:5024945 , RGD:5024942 , RGD:5024947 , RGD:5024948 , RGD:5024946
NCBI chr 1:40,504,712...40,540,014
Ensembl chr 1:40,504,712...40,540,014
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Il19
interleukin 19
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
ISO
DNA:polymorphisms: :
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...
RGD:5144235 , RGD:5144245 , RGD:5144244 , RGD:5144243 , RGD:5144242 , RGD:5144240 , RGD:5144239 , RGD:5144237
NCBI chr 1:40,444,105...40,504,575
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...
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
DNA:SNP:promoter:rs2069762(human)
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
ISO
DNA:SNP:exon:5250C>T (human)
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
IMP
RGD
PMID:19935773
RGD:5037240
NCBI chr 6:67,399,906...67,468,838
Ensembl chr 6:67,399,916...67,468,839
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Il25
interleukin 25
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 IMP ISO
protein:increased expression:sputum DNA:SNP: :g.-964A>G (human)
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
IMP
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
IMP
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
ISO IMP
DNA:SNP: :rs2284033 (human)
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
DNA:SNP: :rs40401(human) DNA:polymorphism:cds:+79T>C(S27P)(human)
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...
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...
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 IAGP 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...
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...
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
IMP ISO
DNA:SNP: :c.25091G>A (human) DNA:SNPs (human)
RGD
PMID:10848907 PMID:20592918 PMID:17276963 PMID:10224351 PMID:16217591 PMID:20513521 More...
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
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
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
ISO IMP IEP
protein:increased expression:respiratory system fluid/secretion protein:increased expression:sputum, macrophage, cytoplasm
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
ISO
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
ClinVar OMIM
PMID:17503328
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
DNA:polymorphisms:promoter, cds:-300G>T, 4396A>G, 6355G>A (human) DNA:repeat:intron (human) protein:increased expression:respiratory tract epithelium
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
IMP
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
ISO
DNA:SNPs: :
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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Itgb6
integrin beta 6
IAGP
OMIM:600807
MouseDO
NCBI chr 2:60,428,636...60,553,005
Ensembl chr 2:60,428,636...60,552,987
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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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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...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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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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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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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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Lgals3
lectin, galactose binding, soluble 3
treatment
ISO
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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Lta
lymphotoxin A
susceptibility no_association
ISO
DNA:polymorphisms:promoter DNA:polymorphism:intron
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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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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Mbl2
mannose-binding lectin (protein C) 2
susceptibility
ISO
associated with Bronchiolitis;DNA:polymorphism:exon: DNA:SNP:cds:p.G54D(human)
RGD
PMID:22512728 PMID:22674410
RGD:8693709 , RGD:12910828
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Mefv
Mediterranean fever
susceptibility
ISO
DNA:mutations:exons
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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Mif
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
severity
ISO IMP
protein:increased expression:bronchoalveolar lavage fluid DNA:SNP:promoter:rs755622(human) DNA:repeats:promoter
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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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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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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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...
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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Mpo
myeloperoxidase
susceptibility
ISO
DNA:polymorphism: :−463G > A (human) protein:increased expression:serum
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
DNA:SNPs:multiple:, rs573790, rs2583476, rs569108 DNA:SNPs: : rs556917, rs502581, rs502419 (human) DNA:SNP: : -109C>T (human) Atopy and bronchial hyperresponsiveness, OMIM:147050
RGD
PMID:19218813 PMID:21320344 PMID:19862939 PMID:8817330
RGD:5131151 , RGD:5131149 , RGD:5131092 , RGD:1599903
NCBI chr19:11,592,881...11,601,154
Ensembl chr19:11,592,887...11,601,083
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Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:transition:cds:g.677C>T (human)
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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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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Muc2
mucin 2
ISO IEP
associated with hypersensitivity
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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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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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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Myb
myeloblastosis oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19198610
NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883
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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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Mylk
myosin, light polypeptide kinase
ISO
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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Nat2
N-acetyltransferase 2 (arylamine N-acetyltransferase)
susceptibility
ISO
DNA:polymorphisms: : Asthma, Aspirin-Induced; DNA:polymorphism: :
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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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 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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Ngf
nerve growth factor
severity
ISO IEP
protein:increased expression:blood, eosinophil protein:increased expression:lung, serum
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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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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Nod1
nucleotide-binding oligomerization domain containing 1
susceptibility
ISO
DNA:SNP: :rs2075817 (human) DNA:insertion:cds:
RGD
PMID:16918516 PMID:15718249
RGD:5131519 , RGD:5131518
NCBI chr 6:54,900,927...54,949,655
Ensembl chr 6:54,900,934...54,949,597
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Nod2
nucleotide-binding oligomerization domain containing 2
susceptibility
ISO IDA
DNA:polymorphisms:intron, exon/3'UTR (rs1077861, rs3135500) (human)
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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Nos1
nitric oxide synthase 1, neuronal
susceptibility
ISO
DNA:repeats:exon DNA:repeats:intron DNA:repeats: :
RGD
PMID:10833424 PMID:14767694 PMID:10673365 PMID:20609134
RGD:5132860 , RGD:5132615 , RGD:5132869 , RGD:5132863
NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905
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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...
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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Nos3
nitric oxide synthase 3, endothelial cell
susceptibility
ISO
DNA:snps, repeat, haplotype:promoter, introns, exons:multiple (human) DNA:polymorphisms:promoter:c. -786C>T, -691C>T (human) DNA:repeats:intron
RGD
PMID:18486767 PMID:16837812 PMID:16081038
RGD:4892053 , RGD:4892058 , RGD:4892062
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Npsr1
neuropeptide S receptor 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 2
OMIM CTD ClinVar RGD
PMID:15073379 PMID:15710598 PMID:15764725 PMID:16926187 PMID:15073379 PMID:18285428 PMID:17702965 More...
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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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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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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Nr3c1
nuclear receptor subfamily 3, group C, member 1
treatment susceptibility severity
ISO
DNA:polymorphism:intron protein:increased expression, decreased activity:leukocyte, mononuclear
RGD
PMID:18396779 PMID:28297812 PMID:20727335 PMID:21113676 PMID:18799869 PMID:15295049 More...
RGD:4892328 , RGD:408364991 , 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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Ntf3
neurotrophin 3
IEP ISO
protein:increased expression:lung, serum
RGD
PMID:17497413 PMID:11737043
RGD:4891068 , RGD:4891123
NCBI chr 6:126,078,375...126,143,703
Ensembl chr 6:126,078,375...126,143,873
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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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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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Ormdl3
ORM1-like 3 (S. cerevisiae)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21150878 PMID:25256354
NCBI chr11:98,472,120...98,478,071
Ensembl chr11:98,472,082...98,478,194
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P2ry12
purinergic receptor P2Y, G-protein coupled 12
ISO IMP
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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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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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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Pde4b
phosphodiesterase 4B, cAMP specific
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21912604
NCBI chr 4:101,944,529...102,464,459
Ensembl chr 4:101,944,740...102,464,456
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Pde4d
phosphodiesterase 4D, cAMP specific
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19426955 PMID:21611147
NCBI chr13:108,790,711...110,092,503
Ensembl chr13:108,586,482...110,089,995
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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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Pgf
placental growth factor
IMP
RGD
PMID:22268141
RGD:6483605
NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564
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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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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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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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Pla2g7
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10733466 PMID:10733466
RGD:1581025
NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092
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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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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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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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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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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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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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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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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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Proc
protein C
treatment
ISO
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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Prol1
proline rich, lacrimal 1
ISO
ClinVar Annotator: match by term: Asthma, protection against CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:11378823 PMID:16759176 PMID:28492532
NCBI chr 5:88,465,171...88,476,676
Ensembl chr 5:88,465,171...88,476,673
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17982072
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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Ptgdr
prostaglandin D receptor
susceptibility
ISO
OMIM
NCBI chr14:45,088,692...45,096,832
Ensembl chr14:45,088,692...45,096,832
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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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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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Ptgs2
prostaglandin-endoperoxide synthase 2
susceptibility severity
ISO IEP IMP
mRNA:increased expression:lung DNA:SNP: :8473T>C (human) mRNA, protein:increased expression:lung: DNA:SNP: :rs689465 (human)
RGD
PMID:19862936 PMID:19878559 PMID:15316498 PMID:17573729 PMID:18097056 PMID:18489027 PMID:19342146 More...
RGD:5135515 , RGD:5135514 , RGD:5143931 , RGD:5143923 , RGD:5135534 , RGD:5135526 , RGD:5135522
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Rad50
RAD50 double strand break repair protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24241537
NCBI chr11:53,540,346...53,598,146
Ensembl chr11:53,540,346...53,598,146
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Rhoa
ras homolog family member A
ISO
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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Runx1
runt related transcription factor 1
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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Runx3
runt related transcription factor 3
IAGP
OMIM:600807
MouseDO
NCBI chr 4:134,847,956...134,905,301
Ensembl chr 4:134,847,963...134,905,301
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Scgb1a1
secretoglobin, family 1A, member 1
susceptibility
ISO
mRNA,protein:decreased expression:bronchial alveolar lavage fluid, lung: ClinVar Annotator: match by term: Asthma, susceptibility to associated with allergic rhinitis; DNA:SNP:exon:38G>A (human) protein:decreased expression:serum
ClinVar RGD
PMID:9550363 PMID:9643286 PMID:12100044 PMID:12921604 PMID:21255142 PMID:15467329 More...
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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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...
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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Sell
selectin, lymphocyte
IMP
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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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
severity susceptibility no_association
ISO
protein:increased expression:plasma DNA:polymorphism:promoter:rs1799768 (human) protein:increased activity, increased expression:plasma, lung
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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Sftpa1
surfactant associated protein A1
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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Sftpb
surfactant associated protein B
ISO IEP
protein:increased expression:lung mRNA, protein:decreased expression:lung protein:decreased expression:lung, Clara cell
RGD
PMID:16629790 PMID:11472974 PMID:15816355 PMID:18926058
RGD:4143462 , RGD:4143465 , RGD:4143398 , RGD:4143289
NCBI chr 6:72,281,594...72,291,354
Ensembl chr 6:72,281,594...72,291,354
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Sftpc
surfactant associated protein C
susceptibility
ISO IEP
DNA:polymorphism: :p.A53T (human) protein:increased expression:lung mRNA, protein:decreased expression:lung
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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Sftpd
surfactant associated protein D
ISO IEP
mRNA, protein:increased expression:lung associated with Bronchitis;protein:increased expression:lung
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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Slc11a1
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
IAGP
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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Slc18a3
solute carrier family 18 (vesicular monoamine), member 3
ISO
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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Slc22a1
solute carrier family 22 (organic cation transporter), member 1
ISO
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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Slc5a7
solute carrier family 5 (choline transporter), member 7
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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Slc6a4
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
susceptibility
ISO
DNA:repeat:intron (human)
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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Sod1
superoxide dismutase 1, soluble
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22867017
NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
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Sod2
superoxide dismutase 2, mitochondrial
ISO
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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Sprr2b
small proline-rich protein 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21912604
NCBI chr 3:92,224,012...92,225,448
Ensembl chr 3:92,223,927...92,225,392
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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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Stat6
signal transducer and activator of transcription 6
treatment
ISO
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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Tac1
tachykinin 1
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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Tacr1
tachykinin receptor 1
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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Tacr2
tachykinin receptor 2
ISO
DNA:SNP:cds:p.G231E (human)
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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Tap1
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
susceptibility
ISO
DNA:polymorphism: :
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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Tbx21
T-box 21
ISO IAGP
CTD Direct Evidence: marker/mechanism OMIM:600807
CTD MouseDO
PMID:15806396
NCBI chr11:96,988,833...97,006,157
Ensembl chr11:96,988,897...97,006,157
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Tbxa2r
thromboxane A2 receptor
susceptibility severity
ISO
ClinVar Annotator: match by term: Asthma DNA:polymorphism:cds:924T>C(human)
ClinVar RGD
PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:15118671 PMID:12000493 PMID:15805995 More...
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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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...
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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Thbd
thrombomodulin
ISO
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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Timp3
tissue inhibitor of metalloproteinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16926187
NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370
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Tlr1
toll-like receptor 1
susceptibility
ISO
DNA:SNP (human)
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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Tlr2
toll-like receptor 2
susceptibility severity
ISO IEP IMP
DNA:SNP: :596T>C (human) DNA:polymorphism:cds:p.R753Q(human) DNA:SNP: :rs3804100 (human) DNA:SNP: :rs4696480 (human) DNA:SNP: :rs7656411 (human)
RGD
PMID:19096003 PMID:22402138 PMID:19148143 PMID:20685742 PMID:20815312 PMID:18202345 PMID:18787777 More...
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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Tlr3
toll-like receptor 3
no_association
ISO IMP
Asthma, Virus-Induced; mRNA:increased expression:sputum (human) DNA:snp:cds:p.L412F (human)
RGD
PMID:21129050 PMID: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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Tlr4
toll-like receptor 4
susceptibility no_association severity
ISO IDA IMP
DNA:Polymorphism:cds:p.D299G (human) DNA:SNPs: :rs10983755, rs1927914 (human) DNA:SNPs:: protein:decreased expression:leukocytes, mononuclear DNA:polymorphisms:cds:c.896A>G, 1196C>T (human)
RGD
PMID:15356557 PMID:19159017 PMID:20628601 PMID:19330007 PMID:20685742 PMID:19067129 PMID:16266379 More...
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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Tlr6
toll-like receptor 6
susceptibility
ISO
DNA:SNP (human) DNA:SNP: :p.S249P (human)
RGD
PMID:18547625 PMID:15266299
RGD:4889528 , RGD:4889538
NCBI chr 5:65,109,373...65,128,387
Ensembl chr 5:65,109,374...65,117,440
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Tlr9
toll-like receptor 9
no_association susceptibility severity
ISO IMP
DNA:snp:promoter:g.-1237T>C rs5743836 (human) protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:21324137 PMID:18312481 PMID:20016192 PMID:20072849
RGD:5130712 , RGD:4144208 , RGD:5129104 , RGD:4889523
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Tnc
tenascin C
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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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)
OMIM ClinVar CTD RGD
PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 PMID:11826025 PMID:11896460 PMID:12356572 PMID:12485196 PMID:12746914 PMID:12759288 PMID:14681301 PMID:14718719 PMID:16418737 PMID:16456144 PMID:16720636 PMID:16865291 PMID:16909270 PMID:17450233 PMID:18050183 PMID:18713756 PMID:19365401 PMID:20049212 PMID:22760475 PMID:22992668 PMID:18711258 PMID:19196817 PMID:16393274 PMID:18811622 PMID:12530118 PMID:18763028 PMID:20465535 PMID:16728705 More...
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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Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
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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Tnip1
TNFAIP3 interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24453940
NCBI chr11:54,801,613...54,853,766
Ensembl chr11:54,801,611...54,853,743
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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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Tslp
thymic stromal lymphopoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21804549
NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850
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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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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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Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
no_association
ISO
DNA:SNP: :rs7975232 (human) DNA:SNPs (human) DNA:SNP (human) DNA:SNPs: :multiple (human)
RGD
PMID:19622139 PMID:20124605 PMID:21103062 PMID:15282200
RGD:4889868 , RGD:4889867 , RGD:4889866 , RGD:4889854
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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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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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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Wdr36
WD repeat domain 36
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19198610
NCBI chr18:32,970,241...33,000,008
Ensembl chr18:32,970,278...33,000,647
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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 chr17:34,560,926...34,563,618
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Tbx21
T-box 21
ISO
ClinVar Annotator: match by term: Asthma and nasal polyps
ClinVar
PMID:15806396
NCBI chr11:96,988,833...97,006,157
Ensembl chr11:96,988,897...97,006,157
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Alox15
arachidonate 15-lipoxygenase
ISO
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
ClinVar
PMID:17959182 PMID:21558275 PMID:25741868 PMID:30643255
NCBI chr11:70,234,973...70,279,465
Ensembl chr11:70,234,978...70,242,857
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Ltc4s
leukotriene C4 synthase
ISO
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
ClinVar
PMID:25741868
NCBI chr11:50,127,288...50,129,378
Ensembl chr11:50,127,288...50,129,443
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Ptger2
prostaglandin E receptor 2 (subtype EP2)
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr14:45,225,568...45,241,277
Ensembl chr14:45,225,652...45,241,277
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Tbx21
T-box 21
susceptibility
ISO
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:25741868
NCBI chr11:96,988,833...97,006,157
Ensembl chr11:96,988,897...97,006,157
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Actl9
actin-like 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042114
NCBI chr17:33,651,873...33,653,242
Ensembl chr17:33,651,870...33,653,242
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Adam17
a disintegrin and metallopeptidase domain 17
IAGP
OMIM:603165
MouseDO
NCBI chr12:21,373,510...21,423,633
Ensembl chr12:21,373,510...21,423,633
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Ahr
aryl-hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27869817
NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037
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Apoe
apolipoprotein E
ISO
protein:decreased expression:plasma
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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Artn
artemin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27869817
NCBI chr 4:117,783,105...117,787,993
Ensembl chr 4:117,783,359...117,786,960
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Bdnf
brain derived neurotrophic factor
susceptibility no_association
ISO
DNA:polymorphism::C270T(human) protein:increased expression:serum: DNA:polymorphism:cds:p.V66M(human) mRNA:decreased expression:mast cell
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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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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Card11
caspase recruitment domain family, member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042114 PMID:28628108
NCBI chr 5:140,858,109...140,986,398
Ensembl chr 5:140,858,745...140,986,337
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Casp8
caspase 8
IAGP
OMIM:603165
MouseDO
NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662
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Ccdc80
coiled-coil domain containing 80
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042114
NCBI chr16:44,913,770...44,948,287
Ensembl chr16:44,913,765...44,948,440
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Ccl11
C-C motif chemokine ligand 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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Ccl17
C-C motif chemokine ligand 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664
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Ccl20
C-C motif chemokine 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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Ccl22
C-C motif chemokine ligand 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437 PMID:22125604
NCBI chr 8:95,472,312...95,478,016
Ensembl chr 8:95,472,218...95,478,327
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Ccl24
C-C motif chemokine ligand 24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr 5:135,598,789...135,601,977
Ensembl chr 5:135,598,791...135,601,903
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Ccl26
C-C motif chemokine ligand 26
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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Ccl27a
C-C motif chemokine ligand 27A
ISO
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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Ccl28
C-C motif chemokine 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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Ccl5
C-C motif chemokine ligand 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Ccr2
C-C motif chemokine 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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Ccr3
C-C motif chemokine 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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Ccr5
C-C motif chemokine 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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Cd40
CD40 antigen
ISO
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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Cdsn
corneodesmosin
ISO
protein:decreased expression:skin of body (human)
RGD
PMID:21211653
RGD:42721970
NCBI chr17:35,854,044...35,867,811
Ensembl chr17:35,863,025...35,868,077
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Cldn1
claudin 1
ISO
mRNA,protein:decreased expression:epidermis; DNA:SNPs:intron,promoter :rs17501010,rs9290927,rs893051,rs9290929,rs16865373(human)
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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Cldn23
claudin 23
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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Cma1
chymase 1, mast cell
ISO
DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human)
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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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNP,haplotype:exon,3'UTR:rs3087243,rs231775 (human) mRNA:increased expression:blood:
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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Ctse
cathepsin E
IAGP
OMIM:603165
MouseDO
NCBI chr 1:131,566,052...131,603,245
Ensembl chr 1:131,566,044...131,603,243
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Cx3cl1
C-X3-C motif chemokine 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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Cx3cr1
C-X3-C motif chemokine 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 9:119,877,749...119,898,945
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27869817
NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
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Cyp4f39
cytochrome P450, family 4, subfamily f, polypeptide 39
ISO
ClinVar Annotator: match by term: Atopic eczema
ClinVar
PMID:25741868
NCBI chr17:32,671,670...32,712,294
Ensembl chr17:32,671,697...32,712,294
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Dock8
dedicator of cytokinesis 8
ISO
DNA:mutations:cds:
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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Emsy
EMSY, BRCA2-interacting transcriptional repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042114
NCBI chr 7:98,236,344...98,308,779
Ensembl chr 7:98,236,344...98,305,990
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F2
coagulation factor II
ISO
protein:increased expression:plasma
RGD
PMID:21488867
RGD:5147756
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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Fcgr3
Fc receptor, IgG, low affinity III
IMP
RGD
PMID:19414806
RGD:5508430
NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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Flg
filaggrin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atopic eczema | ClinVar Annotator: match by term: Dermatitis, atopic
CTD ClinVar
PMID:3163778 PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17291859 PMID:17417636 PMID:17502856 PMID:18325573 PMID:18396323 PMID:19349982 PMID:19501237 PMID:19785597 PMID:19839980 PMID:19874431 PMID:21377035 PMID:21514438 PMID:22071473 PMID:22164253 PMID:22403702 PMID:22995991 PMID:23042114 PMID:23348739 PMID:23947670 PMID:24033266 PMID:24061166 PMID:24920311 PMID:25741868 PMID:26451970 PMID:27279822 PMID:27363669 PMID:30681730 PMID:31365035 PMID:31637781 PMID:32066784 PMID:32325630 PMID:33715246 More...
NCBI chr 3:93,180,853...93,200,996
Ensembl chr 3:93,180,830...93,200,993
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Glb1
galactosidase, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042114
NCBI chr 9:114,230,146...114,303,447
Ensembl chr 9:114,230,144...114,303,966
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Gstm1
glutathione S-transferase, mu 1
susceptibility
ISO
DNA:deletion: :
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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Gstp1
glutathione S-transferase, pi 1
susceptibility
ISO
DNA:polymorphism:exon:p.I105V (rs1695) (human)
RGD
PMID:19842992 PMID:20674822
RGD:5490540 , RGD:5490981
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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Gstt1
glutathione S-transferase, theta 1
ISO
DNA:deletion, haplotype: :
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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Havcr1
hepatitis A virus cellular receptor 1
ISO
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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Hnmt
histamine N-methyltransferase
ISO
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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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18249437 PMID:33274957 PMID:22101570
RGD:8157618
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Ifnl2
interferon lambda 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22295096
NCBI chr 7:28,208,209...28,209,957
Ensembl chr 7:28,208,261...28,209,880
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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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Il13
interleukin 13
severity treatment
ISO IAGP 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...
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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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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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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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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Il18
interleukin 18
severity no_association
ISO IAGP 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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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il2
interleukin 2
susceptibility
ISO IMP
associated with food hypersensitivity; protein:increased expression:CD8+ T cell: DNA:SNP:promoter:rs2069762(human)
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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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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Il23a
interleukin 23, alpha subunit p19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33274957
NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621
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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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Il31
interleukin 31
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr 5:123,618,215...123,620,686
Ensembl chr 5:123,618,220...123,627,552
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Il33
interleukin 33
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Il4
interleukin 4
ISO IAGP
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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Il4ra
interleukin 4 receptor, alpha
susceptibility
ISO
DNA:mutation:cds:p.Q576R(human)
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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Il5
interleukin 5
ISO
mRNA: increased expression: skin CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11886533 PMID:18249437 PMID:33274957 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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18249437
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
ISO
ClinVar Annotator: match by term: Atopic eczema
ClinVar
NCBI chr 7:45,746,545...45,750,215
Ensembl chr 7:45,743,377...45,750,188
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Mapk8
mitogen-activated protein kinase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24046278
NCBI chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115
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Mbl2
mannose-binding lectin (protein C) 2
susceptibility
ISO
DNA:polymorphisms:promoter, exon:
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
IEP
protein: increased expression: skin
RGD
PMID:19889022
RGD:5687321
NCBI chr 8:124,133,839...124,137,483
Ensembl chr 8:124,133,846...124,137,483
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Mmp9
matrix metallopeptidase 9
treatment
IEP
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
Atopy and bronchial hyperresponsiveness, OMIM:147050 Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G
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
DNA:polymorphisms: :481C>T, 590G>A(human) DNA:polymorphisms: :481C>T,590G>A,857G>A(human)
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
IAGP
OMIM:603165
MouseDO
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
IAGP
OMIM:603165
MouseDO
NCBI chr16:55,631,740...55,659,018
Ensembl chr16:55,631,738...55,659,262
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Ngf
nerve growth factor
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)
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
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042114
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
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
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
IMP IAGP
OMIM:603165
MouseDO RGD
PMID:10940923
RGD:7777149
NCBI chr 7:19,340,142...19,363,352
Ensembl chr 7:19,340,142...19,363,363
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S100a8
S100 calcium binding protein A8 (calgranulin A)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18336422
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12410700
NCBI chr 1:163,867,200...163,886,056
Ensembl chr 1:163,875,773...163,885,246
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Selp
selectin, platelet
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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Sharpin
SHANK-associated RH domain interacting protein
IAGP
OMIM:603165
MouseDO
NCBI chr15:76,231,240...76,235,310
Ensembl chr15:76,231,240...76,235,311
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Shoc2
Shoc2, leucine rich repeat scaffold protein
ISO
associated with Noonan syndrome and related diseases; DNA:mutation:cds:c.4A>G (p.S2G)(human)
RGD
PMID:20882035
RGD:11071178
NCBI chr19:53,932,018...54,021,711
Ensembl chr19:53,932,737...54,021,564
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Slc11a1
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
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
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15306842
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
ISO
RGD GAD
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
DNA:polymorphism: :-16934A>T(human) DNA:polymorphism:cds:p.R753Q(human)
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
ISO
DNA:polymorphism: :896G>A(human) mRNA:increased expression:blood cell:
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
IAGP
OMIM:603165
MouseDO
NCBI chr 3:88,236,351...88,241,761
Ensembl chr 3:88,235,962...88,243,455
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:haplotype:promoter:−308G>A,-238G>A(human)
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
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
IAGP
OMIM:603165
MouseDO
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
IAGP
OMIM:603165
MouseDO
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
ISO IAGP IEP
CTD Direct Evidence: marker/mechanism OMIM:603165
CTD MouseDO 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
DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human) DNA:SNP: :rs2228570 (human)
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
G
Vnn1
vanin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19322213
NCBI chr10:23,770,586...23,781,242
Ensembl chr10:23,770,586...23,781,241
G
Wasl
WASP like actin nucleation promoting factor
IAGP
OMIM:603165
MouseDO
NCBI chr 6:24,613,809...24,665,185
Ensembl chr 6:24,613,804...24,665,008
G
Flg
filaggrin
IAGP ISO
OMIM:605803 ClinVar Annotator: match by term: Dermatitis, atopic, 2 | ClinVar Annotator: match by term: Dermatitis, atopic, 2, susceptibility to CTD Direct Evidence: marker/mechanism
MouseDO ClinVar OMIM CTD
PMID:3163778 PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17291859 PMID:17417636 PMID:17502856 PMID:18325573 PMID:18396323 PMID:19183181 PMID:19501237 PMID:19663875 PMID:19785597 PMID:19839980 PMID:19874431 PMID:20109745 PMID:20674819 PMID:21039602 PMID:21326297 PMID:21377035 PMID:21428977 PMID:21514438 PMID:22071473 PMID:22164253 PMID:22403702 PMID:22407025 PMID:22951058 PMID:22995991 PMID:23039796 PMID:23301728 PMID:23947670 PMID:24033266 PMID:24077912 PMID:24565632 PMID:24608987 PMID:24629053 PMID:24858702 PMID:24920311 PMID:25314673 PMID:25741868 PMID:26451970 PMID:27279822 PMID:27363669 PMID:27519469 PMID:28143684 PMID:29056476 PMID:29428354 PMID:29444371 PMID:29791750 PMID:30665703 PMID:30681730 PMID:31365035 PMID:31637781 PMID:32066784 PMID:32325630 PMID:33715246 More...
NCBI chr 3:93,180,853...93,200,996
Ensembl chr 3:93,180,830...93,200,993
G
Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10194187
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Btnl2
butyrophilin-like 2
susceptibility
ISO
DNA:SNP: :rs3117099(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17927685 PMID:17927685
RGD:9685029
NCBI chr17:34,573,763...34,588,466
Ensembl chr17:34,573,796...34,588,469
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Ccr5
C-C motif chemokine receptor 5
disease_progression
ISO
DNA:polymorphisms:5' utr:multiple (human)
RGD
PMID:20075058
RGD:4892065
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Cd28
CD28 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12952926
NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
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Gclm
glutamate-cysteine ligase, modifier subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16766924
NCBI chr 3:122,039,206...122,060,864
Ensembl chr 3:122,039,206...122,064,381
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H2-Eb1
histocompatibility 2, class II antigen E beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16272364 PMID:17927685
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Hmox1
heme oxygenase 1
ISO
protein:increased activity:sputum
RGD
PMID:19453654
RGD:4145349
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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Il2ra
interleukin 2 receptor, alpha chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8977230
NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8428540
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Tgfb1
transforming growth factor, beta 1
severity
ISO
DNA:polymorphisms: :-509C>T (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15750822 PMID:17785866 PMID:17785866
RGD:4145294
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8428540 PMID:12449171 PMID:15127972 PMID:16980557
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Muc1
mucin 1, transmembrane
ISO
protein:increased expression:serum
RGD
PMID:15881280
RGD:5131172
NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688
G
Nfkbia
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
exacerbates
ISO
associated with respiratory syncytial virus infectious disease;DNA:SNPs:protomer: (rs2233409) (human)
RGD
PMID:23487427
RGD:40902982
NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432
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Ngf
nerve growth factor
treatment
ISO
RGD
PMID:30681402
RGD:405100716
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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Abca1
ATP-binding cassette, sub-family A member 1
ISO
ClinVar Annotator: match by term: Reduced delayed hypersensitivity
ClinVar
PMID:28492532
NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19376187
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Anxa1
annexin A1
IMP
RGD
PMID:23267026
RGD:7421573
NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308
G
Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
ClinVar Annotator: match by term: Reduced delayed hypersensitivity
ClinVar
NCBI chr19:8,814,831...8,826,047
Ensembl chr19:8,814,831...8,826,047
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:dermis, neutrophil (rat)
RGD
PMID:8774140
RGD:8549532
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
G
Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:16493073
RGD:5688154
NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
G
Cd40
CD40 antigen
IMP
RGD
PMID:15210767
RGD:7248442
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Ctss
cathepsin S
ISO
RGD
PMID:16631730
RGD:5687149
NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:15884054
RGD:5143937
NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
G
Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:16507899
RGD:8554852
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
G
Gata3
GATA binding protein 3
ISO
mRNA, protein:increased expression:spleen
RGD
PMID:16336837
RGD:2314191
NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845
G
Gng3
guanine nucleotide binding protein (G protein), gamma 3
ISO
ClinVar Annotator: match by term: Reduced delayed hypersensitivity
ClinVar
NCBI chr19:8,814,293...8,816,610
Ensembl chr19:8,814,297...8,816,558
G
H2-Aa
histocompatibility 2, class II antigen A, alpha
ISO
RGD
PMID:9834080
RGD:5147666
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
G
H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
RGD
PMID:9834080
RGD:5147666
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
G
Hnf1a
HNF1 homeobox A
ISO
ClinVar Annotator: match by term: Reduced delayed hypersensitivity
ClinVar
PMID:11938027 PMID:24033266 PMID:24728327 PMID:25741868 PMID:25887915 PMID:28492532 PMID:29334895 More...
NCBI chr 5:115,087,039...115,109,121
Ensembl chr 5:115,087,039...115,109,153
G
Icam1
intercellular adhesion molecule 1
IMP
RGD
PMID:8093459
RGD:8547692
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
G
Ifng
interferon gamma
IMP
RGD
PMID:3139020
RGD:8157617
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
G
Il13
interleukin 13
treatment
IDA
RGD
PMID:19951958
RGD:8549563
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
G
Il17a
interleukin 17A
ISO
RGD
PMID:19373578
RGD:4888523
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
G
Abcc2
ATP-binding cassette, sub-family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20216337
NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179
G
Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18727619
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
G
Adora1
adenosine A1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19019667
NCBI chr 1:134,126,953...134,163,195
Ensembl chr 1:134,126,963...134,163,169
G
Adora2a
adenosine A2a receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19019667
NCBI chr10:75,152,711...75,170,626
Ensembl chr10:75,152,711...75,170,618
G
Ccl11
C-C motif chemokine ligand 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14616128
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
G
Ccl24
C-C motif chemokine ligand 24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14616128
NCBI chr 5:135,598,789...135,601,977
Ensembl chr 5:135,598,791...135,601,903
G
Cyp2c65
cytochrome P450, family 2, subfamily c, polypeptide 65
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr19:39,049,450...39,082,392
Ensembl chr19:39,049,459...39,082,388
G
Cysltr1
cysteinyl leukotriene receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16630147
NCBI chr X:105,617,952...105,647,329
Ensembl chr X:105,617,952...105,647,285
G
Cysltr2
cysteinyl leukotriene receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15970796
NCBI chr14:73,263,043...73,286,554
Ensembl chr14:73,263,043...73,286,554
G
Fasl
Fas ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19706026
NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
G
Fcer1a
Fc receptor, IgE, high affinity I, alpha polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17125826 PMID:20485159
NCBI chr 1:173,048,836...173,054,799
Ensembl chr 1:173,048,851...173,054,781
G
Fcer1g
Fc receptor, IgE, high affinity I, gamma polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18534082 PMID:18595682
NCBI chr 1:171,057,141...171,061,918
Ensembl chr 1:171,057,141...171,061,934
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Gstm1
glutathione S-transferase, mu 1
susceptibility
ISO
DNA:deletion: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20485159 PMID:11007341
RGD:5491000
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
G
Gstp1
glutathione S-transferase, pi 1
susceptibility
ISO
associated with Acquired Immunodeficiency Syndrome;DNA:polymorphism:exon:A>G313 (rs1695) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20485159 PMID:16297214
RGD:5490995
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
G
Gstt1
glutathione S-transferase, theta 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:11007341
RGD:5491000
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
G
Gzmb
granzyme B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19706026
NCBI chr14:56,496,293...56,499,791
Ensembl chr14:56,496,295...56,499,717
G
H2-Eb1
histocompatibility 2, class II antigen E beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
G
H2-M2
histocompatibility 2, M region locus 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11943262 PMID:15024131 PMID:17392574 PMID:18007983
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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Hnmt
histamine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr 2:23,892,923...23,939,756
Ensembl chr 2:23,892,922...23,939,406
G
Hspa1a
heat shock protein 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16538175
NCBI chr17:35,188,335...35,191,132
Ensembl chr17:35,188,166...35,191,132
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Hspa1l
heat shock protein 1-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16538175
NCBI chr17:35,191,679...35,198,204
Ensembl chr17:35,191,679...35,198,261
G
Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19222424 PMID:20485159
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
G
Il13
interleukin 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
G
Il2
interleukin 2
ISO
RGD
PMID:1549655
RGD:8662975
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
G
Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15867870 PMID:20485159
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
G
Il4ra
interleukin 4 receptor, alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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Ltc4s
leukotriene C4 synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16433794
NCBI chr11:50,127,288...50,129,378
Ensembl chr11:50,127,288...50,129,443
G
Ms4a2
membrane-spanning 4-domains, subfamily A, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16839402 PMID:18534082 PMID:20485159
NCBI chr19:11,592,881...11,601,154
Ensembl chr19:11,592,887...11,601,083
G
Nat2
N-acetyltransferase 2 (arylamine N-acetyltransferase)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159 PMID:20602614 PMID:21572414
NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236
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
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
G
Ptger3
prostaglandin E receptor 3 (subtype EP3)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20587336
NCBI chr 3:157,272,459...157,350,392
Ensembl chr 3:157,272,529...157,351,525
G
Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17508966
NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
G
Tac1
tachykinin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21233199
NCBI chr 6:7,555,061...7,562,978
Ensembl chr 6:7,554,879...7,565,834
G
Tbxas1
thromboxane A synthase 1, platelet
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21449675
NCBI chr 6:38,817,897...39,061,524
Ensembl chr 6:38,852,338...39,061,519
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11294926 PMID:20485159
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
Tnfrsf10b
tumor necrosis factor receptor superfamily, member 10b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19652058
NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860
G
Alox5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139
G
Apoa1
apolipoprotein A-I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21055120
NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
G
Apoc2
apolipoprotein C2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21055120
NCBI chr 7:19,405,504...19,411,866
Ensembl chr 7:19,405,504...19,411,866
G
Apoc3
apolipoprotein C-III
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21055120
NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934
G
Bdnf
brain derived neurotrophic factor
IEP
mRNA:increased expression:lymph node, ear:
RGD
PMID:19904815
RGD:8657071
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
G
C4b
complement C4B (Chido blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21055120
NCBI chr17:34,947,249...34,962,876
Ensembl chr17:34,947,354...34,962,856
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19351467
NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
G
Cyp2c38
cytochrome P450, family 2, subfamily c, polypeptide 38
susceptibility treatment
ISO
DNA:SNP: :Rs4244285(human) associated with tuberculosis; DNA.polymorphism, haplotype:cds:p.W212X (human)
RGD
PMID:23551241 PMID:20941486
RGD:11352742 , RGD:124713543
NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519
G
Cyp2c66
cytochrome P450, family 2, subfamily c, polypeptide 66
susceptibility
ISO
DNA:SNP: :Rs4244285(human)
RGD
PMID:23551241
RGD:11352742
NCBI chr19:39,102,342...39,175,200
Ensembl chr19:39,102,342...39,175,516
G
Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19351467
NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900
G
Fcer1a
Fc receptor, IgE, high affinity I, alpha polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr 1:173,048,836...173,054,799
Ensembl chr 1:173,048,851...173,054,781
G
H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
DNA:polymorphisms:exon:
RGD
PMID:16836882
RGD:8547665
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
G
H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
G
H2-M2
histocompatibility 2, M region locus 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19712599 PMID:29370880
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31150805
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
G
Il17a
interleukin 17A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31150805
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
G
Il18
interleukin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18204966
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
G
Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31150805
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
G
Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19351467
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
G
Kng1
kininogen 1
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:1371395 PMID:3034372
NCBI chr16:22,876,970...22,900,828
Ensembl chr16:22,876,615...22,900,828
G
Mpo
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18204966
NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239
G
Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14723717
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
G
Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31150805
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
G
Tac1
tachykinin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1371395
NCBI chr 6:7,555,061...7,562,978
Ensembl chr 6:7,554,879...7,565,834
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31150805
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
Ttr
transthyretin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21055120
NCBI chr18:20,797,266...20,807,383
Ensembl chr18:20,798,337...20,807,378
G
C1qa
complement component 1, q subcomponent, alpha polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 4:136,623,227...136,626,155
Ensembl chr 4:136,623,228...136,626,114
G
C1qb
complement component 1, q subcomponent, beta polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 4:136,607,437...136,613,511
Ensembl chr 4:136,607,440...136,613,498
G
C1qc
complement component 1, q subcomponent, C chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 4:136,617,115...136,620,225
Ensembl chr 4:136,617,115...136,620,376
G
Cfhr1
complement factor H-related 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 1:139,474,802...139,487,960
Ensembl chr 1:139,474,791...139,488,010
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Crp
C-reactive protein, pentraxin-related
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
G
Hspa1l
heat shock protein 1-like
ISO
DNA:polymorphism, haplotype: :p.M493T (human)
RGD
PMID:15024131
RGD:8662461
NCBI chr17:35,191,679...35,198,204
Ensembl chr17:35,191,679...35,198,261
G
Il1b
interleukin 1 beta
ISO
DNA:SNP:promoter:-511C>T (rs 16944) (human)
RGD
PMID:23461376
RGD:11051970
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Il1rn
interleukin 1 receptor antagonist
ISO
DNA:SNP:intron:rs2234663 (human)
RGD
PMID:23461376
RGD:11051970
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Lbp
lipopolysaccharide binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 2:158,148,413...158,174,772
Ensembl chr 2:158,148,413...158,174,772
G
Lrg1
leucine-rich alpha-2-glycoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr17:56,426,678...56,428,946
Ensembl chr17:56,426,678...56,429,001
G
Orm1
orosomucoid 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 4:63,262,793...63,266,400
Ensembl chr 4:63,262,797...63,266,400
G
Orm2
orosomucoid 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 4:63,280,543...63,284,114
Ensembl chr 4:63,280,686...63,284,115
G
Vwf
Von Willebrand factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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Grin2b
glutamate receptor, ionotropic, NMDA2B (epsilon 2)
ISO
protein:increased expression:brain, cingulate cortex (rat)
RGD
PMID:19208366
RGD:2326032
NCBI chr 6:135,690,219...136,150,658
Ensembl chr 6:135,690,231...136,150,509
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Il13
interleukin 13
ISO
associated with Dermatitis, Atopic; DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (c.389G>A) (rs1800925, rs20541) (human)
RGD
PMID:19220774
RGD:8549541
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Ptprd
protein tyrosine phosphatase receptor type D
susceptibility
ISO
RGD
PMID:27281273
RGD:401850598
NCBI chr 4:75,859,474...78,132,282
Ensembl chr 4:75,859,475...78,130,198
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Ccl26
C-C motif chemokine ligand 26
severity
ISO
protein:increased expression:sputum (human)
RGD
PMID:25936567
RGD:11531115
NCBI chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
G
Epx
eosinophil peroxidase
treatment
ISO
RGD
PMID:28751233
RGD:13506890
NCBI chr11:87,754,824...87,766,362
Ensembl chr11:87,754,826...87,766,362
G
Ang
angiogenin, ribonuclease, RNase A family, 5
ISO
RGD
PMID:22331014
RGD:6771318
NCBI chr14:51,328,607...51,339,462
Ensembl chr14:51,328,607...51,339,466
G
Ankrd27
ankyrin repeat domain 27
ISO
DNA:SNPs:intron: (rs3815700, rs10410895) (human)
RGD
PMID:25407941
RGD:11100048
NCBI chr 7:35,285,652...35,338,662
Ensembl chr 7:35,285,669...35,338,651
G
Ccl26
C-C motif chemokine ligand 26
treatment
ISO
protein:increased expression:esophagus (human)
RGD
PMID:18844613 PMID:24704289
RGD:11081156 , RGD:11081157
NCBI chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
G
Ccr3
C-C motif chemokine receptor 3
IMP
RGD
PMID:1316818
RGD:6893390
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
G
Cd40lg
CD40 ligand
ISO
protein:decreased expression:plasma
RGD
PMID:21211656
RGD:5490306
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
G
Cyp2c38
cytochrome P450, family 2, subfamily c, polypeptide 38
treatment
ISO
DNA:polymorphisms::
RGD
PMID:26416193
RGD:11352743
NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519
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Cyp2c66
cytochrome P450, family 2, subfamily c, polypeptide 66
treatment
ISO
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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Il5
interleukin 5
IMP
RGD
PMID:23161496
RGD:11354947
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
G
Pecam1
platelet/endothelial cell adhesion molecule 1
ISO
protein:increased expression:esophagus (human)
RGD
PMID:22331014
RGD:6771318
NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454
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Tgfb1
transforming growth factor, beta 1
ISO
RGD
PMID:24486052
RGD:11073602
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
G
Tslp
thymic stromal lymphopoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20208534
NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850
G
Cd40
CD40 antigen
ISO
RGD
PMID:18050371
RGD:8547765
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
G
Cd40lg
CD40 ligand
ISO
RGD
PMID:18050371
RGD:8547765
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
G
Cd8a
CD8 subunit alpha
susceptibility
ISO
associated with adult T-cell leukemia;mRNA:increased expression:blood (human)
RGD
PMID:32433748
RGD:124715447
NCBI chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157
G
H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
DNA:polymorphisms (human)
RGD
PMID:9627123
RGD:5147868
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
G
Masp2
MBL associated serine protease 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12904520
NCBI chr 4:148,679,079...148,699,939
Ensembl chr 4:148,687,011...148,699,956
G
Vegfa
vascular endothelial growth factor A
ISO
mRNA:increased expression: :
RGD
PMID:7738351
RGD:7421578
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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C3
complement component 3
ISO
associated with Leprosy
RGD
PMID:2783924
RGD:7421527
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
G
Cfb
complement factor B
ISO
associated with Leprosy
RGD
PMID:2783924
RGD:7421527
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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Gstm1
glutathione S-transferase, mu 1
susceptibility
ISO
associated with Behcet Syndrome;DNA:deletion:: (human)
RGD
PMID:22766250
RGD:7794848
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
G
H2-M2
histocompatibility 2, M region locus 2
ISO
associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human)
RGD
PMID:12198697
RGD:7364926
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
G
H2-Q4
histocompatibility 2, Q region locus 4
ISO
associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human)
RGD
PMID:12198697
RGD:7364926
NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266
G
Lta
lymphotoxin A
ISO
associated with Sarcoidosis;DNA:polymorphism:intron
RGD
PMID:19225544
RGD:8548773
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
G
Tnf
tumor necrosis factor
susceptibility
ISO
associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human)
RGD
PMID:12198697
RGD:7364926
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
susceptibility
ISO
associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human)
RGD
PMID:24880677
RGD:13217417
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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Alox5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:10984370
RGD:4890423
NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139
G
Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:lung, secretion (human)
RGD
PMID:19996575
RGD:4892021
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Tacr1
tachykinin receptor 1
ISO
RGD
PMID:8630576
RGD:5147837
NCBI chr 6:82,378,990...82,537,085
Ensembl chr 6:82,379,315...82,537,085
G
Acsl3
acyl-CoA synthetase long-chain family member 3
IEP
RGD
PMID:23526225
RGD:13831300
NCBI chr 1:78,635,600...78,685,462
Ensembl chr 1:78,635,542...78,685,460
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Bcl2
B cell leukemia/lymphoma 2
treatment
ISO
RGD
PMID:29713367
RGD:13792581
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Cd86
CD86 antigen
treatment
IMP
RGD
PMID:25344652
RGD:11354965
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
G
Fas
Fas cell surface death receptor
treatment
ISO
RGD
PMID:29713367
RGD:13792581
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fasl
Fas ligand
treatment
ISO
RGD
PMID:29713367
RGD:13792581
NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
G
Il23a
interleukin 23, alpha subunit p19
IMP
RGD
PMID:19935773 PMID:26344076
RGD:5037240 , RGD:11251537
NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621
G
Ace
angiotensin I converting enzyme
ISO
protein:increased expression:plasma
RGD
PMID:19218674
RGD:4140920
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
G
Ccl5
C-C motif chemokine ligand 5
IEP ISO
protein:increased secretion:lung, secretion (mouse) mRNA:increased expression:lung:bronchoalveolar lavage cell (human)
RGD
PMID:16387809 PMID:10384061
RGD:4891434 , RGD:4891436
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
G
Ccl7
C-C motif chemokine ligand 7
IEP
RGD
PMID:20027288
RGD:5130978
NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351
G
Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:19842835
RGD:4145620
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
G
Cd86
CD86 antigen
IEP
associated with Paramyxoviridae Infections; protein:increased expression:lung (mouse)
RGD
PMID:19282343
RGD:4892294
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
G
Cxcl10
C-X-C motif chemokine ligand 10
IEP ISO
mRNA:increased expression:alveolar macrophage
RGD
PMID:14991597 PMID:15725351
RGD:5135448 , RGD:5135490
NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748
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Cxcl11
chemokine (C-X-C motif) ligand 11
IEP
RGD
PMID:14991597
RGD:5135448
NCBI chr 5:92,507,403...92,511,155
Ensembl chr 5:92,507,403...92,513,344
G
Cxcl9
C-X-C motif chemokine ligand 9
IEP ISO
mRNA:increased expression:alveolar macrophage
RGD
PMID:14991597 PMID:15725351
RGD:5135448 , RGD:5135490
NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938
G
Cxcr3
C-X-C motif chemokine receptor 3
IEP ISO
RGD
PMID:14991597 PMID:19842835
RGD:5135448 , RGD:4145620
NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
G
Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
mRNA:decreased expression:leukocyte
RGD
PMID:20514434
RGD:4892076
NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900
G
Il13
interleukin 13
ISO IEP
mRNA:increased expression:lung
RGD
PMID:9916735 PMID:20861649
RGD:4145650 , RGD:5128548
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
G
Il17a
interleukin 17A
IMP
associated with Silicosis
RGD
PMID:20421647 PMID:19151189
RGD:4888525 , RGD:4889106
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
G
Il17ra
interleukin 17 receptor A
IMP
RGD
PMID:19414809
RGD:5144217
NCBI chr 6:120,440,143...120,460,692
Ensembl chr 6:120,440,208...120,464,520
G
Il1a
interleukin 1 alpha
IEP
protein:increased expression:Bronchoalveolar Lavage Fluid
RGD
PMID:10882225
RGD:4142832
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
G
Il1b
interleukin 1 beta
disease_progression
ISO
protein:increased expression:serum (human)
RGD
PMID:19556641 PMID:1519663
RGD:4142842 , RGD:7401229
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Il5
interleukin 5
IEP
protein:increased expression:lung,respiratory system fluid/secretion
RGD
PMID:19151189
RGD:4889106
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
G
Nos2
nitric oxide synthase 2, inducible
ISO
protein:increased expression:lung
RGD
PMID:11789718
RGD:4891449
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
G
Sftpa1
surfactant associated protein A1
ISO
protein:decreased expression:lung
RGD
PMID:10543276
RGD:4143437
NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409
G
Sod2
superoxide dismutase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10673208
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
G
Tap1
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
susceptibility
ISO
DNA:polymorphisms:cds:P. D637G, P661P (human)
RGD
PMID:18342853
RGD:5147840
NCBI chr17:34,406,530...34,416,199
Ensembl chr17:34,406,527...34,416,199
G
Tlr6
toll-like receptor 6
IMP
RGD
PMID:20070409
RGD:4889532
NCBI chr 5:65,109,373...65,128,387
Ensembl chr 5:65,109,374...65,117,440
G
Tnc
tenascin C
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:9780295
RGD:4889595
NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252
G
Tnf
tumor necrosis factor
IEP ISO
protein:increased expression:Bronchoalveolar Lavage Fluid
RGD
PMID:10882225 PMID:15653992
RGD:4142832 , RGD:4143466
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
ISO
protein:increased expression:alveolar macrophage (human)
RGD
PMID:15929959
RGD:5131148
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
G
Tnfrsf1b
tumor necrosis factor receptor superfamily, member 1b
ISO
protein:increased expression:alveolar macrophage (human)
RGD
PMID:15929959
RGD:5131148
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
G
Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:15764076
RGD:5684419
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
G
Nlrp12
NLR family, pyrin domain containing 12
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome
ClinVar
PMID:24033266 PMID:24064030 PMID:25741868 PMID:27314497 PMID:27633793 PMID:28492532 More...
NCBI chr 7:3,267,317...3,298,400
Ensembl chr 7:3,267,458...3,298,370
G
Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome
ClinVar
PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 PMID:15593220 PMID:17038455 PMID:17213252 PMID:17393462 PMID:20159265 PMID:22566169 PMID:23421920 PMID:24033266 PMID:24123366 PMID:24135410 PMID:25038238 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26467025 PMID:26531310 PMID:27994174 PMID:28492532 PMID:28692792 PMID:29159471 PMID:29922587 PMID:30407166 PMID:30808881 More...
NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
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Plcg2
phospholipase C, gamma 2
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome
ClinVar
PMID:25741868
NCBI chr 8:118,225,014...118,361,881
Ensembl chr 8:118,225,030...118,361,881
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Nlrp3
NLR family, pyrin domain containing 3
ISO IAGP
ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1 OMIM:120100
OMIM ClinVar MouseDO
PMID:49161 PMID:447320 PMID:5173311 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 PMID:12483741 PMID:12522564 PMID:14630794 PMID:14872505 PMID:15020601 PMID:15231984 PMID:15593220 PMID:15724022 PMID:15801036 PMID:16081838 PMID:16100350 PMID:16449034 PMID:16802372 PMID:16871551 PMID:16920754 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17284928 PMID:17393462 PMID:17509468 PMID:17513575 PMID:18063752 PMID:18080732 PMID:18263599 PMID:18311798 PMID:19319132 PMID:19501000 PMID:20131270 PMID:20159265 PMID:20182451 PMID:20472245 PMID:20506209 PMID:21058222 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:21637346 PMID:21702021 PMID:21810457 PMID:22128899 PMID:22146561 PMID:22193915 PMID:22377911 PMID:22403613 PMID:22512814 PMID:22524199 PMID:22529966 PMID:22566169 PMID:22661645 PMID:22843550 PMID:22935299 PMID:23015306 PMID:23421920 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24365011 PMID:24431285 PMID:24517500 PMID:24649046 PMID:24759409 PMID:24773462 PMID:25038238 PMID:25584041 PMID:25586466 PMID:25596455 PMID:25639832 PMID:25730877 PMID:25741868 PMID:25766347 PMID:25821352 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26590045 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27134254 PMID:27191192 PMID:27548431 PMID:27612399 PMID:27650144 PMID:27692610 PMID:27819323 PMID:27943240 PMID:27943647 PMID:27974218 PMID:27994174 PMID:28028683 PMID:28079503 PMID:28137891 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28501347 PMID:28692792 PMID:29047407 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29152264 PMID:29159471 PMID:29163488 PMID:29322034 PMID:29922587 PMID:29977033 PMID:29988644 PMID:30069026 PMID:30214525 PMID:30311386 PMID:30338413 PMID:30407166 PMID:30431487 PMID:30568124 PMID:30772614 PMID:30808881 PMID:31057541 PMID:31172726 PMID:31442672 PMID:31777803 PMID:32082075 PMID:32199921 PMID:32477355 PMID:33020839 PMID:33329557 PMID:34099780 PMID:35668534 PMID:35753512 More...
NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
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Myadm
myeloid-associated differentiation marker
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2
ClinVar
PMID:28492532
NCBI chr 7:3,337,563...3,347,871
Ensembl chr 7:3,337,605...3,348,958
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Nlrp12
NLR family, pyrin domain containing 12
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 | ClinVar Annotator: match by term: NLRP12-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 PMID:21538323 PMID:24033266 PMID:24064030 PMID:25064839 PMID:25640679 PMID:25741868 PMID:26508570 PMID:27314497 PMID:27633793 PMID:28166811 PMID:28492532 PMID:29500522 PMID:30783801 PMID:30788684 PMID:30858956 PMID:31155445 PMID:31820221 PMID:32888943 PMID:33042144 PMID:34975878 PMID:37928541 More...
NCBI chr 7:3,267,317...3,298,400
Ensembl chr 7:3,267,458...3,298,370
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Prkcg
protein kinase C, gamma
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2
ClinVar
PMID:28492532
NCBI chr 7:3,352,038...3,379,615
Ensembl chr 7:3,337,704...3,379,615
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Rapgefl1
Rap guanine nucleotide exchange factor (GEF)-like 1
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2
ClinVar
NCBI chr11:98,727,611...98,744,519
Ensembl chr11:98,727,611...98,744,523
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Bco1
beta-carotene oxygenase 1
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3
ClinVar
PMID:28492532
NCBI chr 8:117,822,590...117,860,459
Ensembl chr 8:117,822,593...117,860,459
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Cmip
c-Maf inducing protein
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3
ClinVar
PMID:28492532
NCBI chr 8:117,983,758...118,188,245
Ensembl chr 8:117,983,803...118,186,169
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Gan
giant axonal neuropathy
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3
ClinVar
PMID:28492532
NCBI chr 8:117,884,720...117,932,573
Ensembl chr 8:117,884,874...117,942,736
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Gcsh
glycine cleavage system protein H (aminomethyl carrier)
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3
ClinVar
PMID:28492532
NCBI chr 8:117,708,706...117,720,237
Ensembl chr 8:117,708,549...117,720,276
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Pkd1l2
polycystic kidney disease 1 like 2
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3
ClinVar
PMID:28492532
NCBI chr 8:117,722,089...117,809,227
Ensembl chr 8:117,722,418...117,809,188
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Plcg2
phospholipase C, gamma 2
ISO
ClinVar Annotator: match by term: FAMILIAL ATYPICAL COLD URTICARIA | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22236196 PMID:24033266 PMID:24869598 PMID:25640679 PMID:25741868 PMID:27577878 PMID:28166811 PMID:28492532 PMID:29590070 PMID:29921932 PMID:30273710 PMID:30344948 PMID:30619256 PMID:31853824 PMID:32047491 PMID:32185379 PMID:32671674 PMID:32894242 PMID:33859323 PMID:33936634 PMID:34329649 PMID:35753512 PMID:38790019 More...
NCBI chr 8:118,225,014...118,361,881
Ensembl chr 8:118,225,030...118,361,881
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Dpy30
dpy-30, histone methyltransferase complex regulatory subunit
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
ClinVar
PMID:28492532
NCBI chr17:74,606,469...74,630,939
Ensembl chr17:74,606,469...74,630,939
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Memo1
mediator of cell motility 1
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
ClinVar
PMID:28492532
NCBI chr17:74,493,759...74,602,677
Ensembl chr17:74,506,031...74,602,516
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Nlrc4
NLR family, CARD domain containing 4
ISO IAGP
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 OMIM:616115
OMIM ClinVar MouseDO
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:22406018 PMID:24033266 PMID:25217959 PMID:25217960 PMID:25385754 PMID:25741868 PMID:27974463 PMID:28492532 PMID:29326099 PMID:29778503 PMID:30783801 PMID:30864118 PMID:31597739 PMID:32081864 PMID:32529290 PMID:32707200 PMID:33822359 PMID:34248956 PMID:34783940 More...
NCBI chr17:74,733,254...74,766,140
Ensembl chr17:74,732,433...74,766,137
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Slc30a6
solute carrier family 30 (zinc transporter), member 6
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
ClinVar
PMID:28492532
NCBI chr17:74,702,573...74,731,225
Ensembl chr17:74,702,603...74,731,216
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Spast
spastin
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
ClinVar
PMID:28492532
NCBI chr17:74,643,805...74,698,110
Ensembl chr17:74,645,982...74,698,110
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Srd5a2
steroid 5 alpha-reductase 2
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
ClinVar
PMID:28492532
NCBI chr17:74,321,886...74,354,855
Ensembl chr17:74,323,950...74,354,911
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Xdh
xanthine dehydrogenase
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
ClinVar
PMID:28492532
NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191
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Slx1b
SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae)
IAGP
OMIM:227850
MouseDO
NCBI chr 7:126,288,099...126,294,955
Ensembl chr 7:126,288,640...126,294,956
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Slx4
SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)
IAGP
OMIM:227850
MouseDO
NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634
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Il12b
interleukin 12b
IMP
RGD
PMID:12084045
RGD:4145430
NCBI chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860
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Tnf
tumor necrosis factor
ISO
protein:increased secretion:macrophage DNA:polymorphism:promoter
RGD
PMID:8466130 PMID:11179110
RGD:4143375 , RGD:4143374
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Ifnl2
interferon lambda 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22295096
NCBI chr 7:28,208,209...28,209,957
Ensembl chr 7:28,208,261...28,209,880
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Il13
interleukin 13
IEP
mRNA:increased expression:small intestine
RGD
PMID:22038918
RGD:5684372
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il5
interleukin 5
ISO
RGD
PMID:22077487
RGD:5687145
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Madcam1
mucosal vascular addressin cell adhesion molecule 1
ISO
RGD
PMID:14670821
RGD:2311549
NCBI chr10:79,500,393...79,504,376
Ensembl chr10:79,500,393...79,504,371
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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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Slc11a1
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
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Kdr
kinase insert domain protein receptor
treatment
ISO
DNA:polymorphism:cds:p.H472Q(human)
RGD
PMID:20630084
RGD:8552374
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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Ace
angiotensin I converting enzyme
disease_progression
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:15315169
RGD:11038920
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Agt
angiotensinogen
severity
ISO
DNA:missense mutation:cds:p.M235T (human) DNA:missense mutation:cds:p.T174M (human)
RGD
PMID:16521052 PMID:20702504
RGD:11039045 , RGD:11039055
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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C3
complement component 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1353212
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO
DNA:snp:promoter:g.-2518C>T (human) protein:increased expression:serum (human)
RGD
PMID:26234573 PMID:25839768
RGD:11522500 , RGD:11528567
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Cd86
CD86 antigen
treatment
ISO
protein:increased expression:venous blood, B cell (human)
RGD
PMID:27030970
RGD:11354986
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human)
RGD
PMID:11836690
RGD:5147830
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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Hmox1
heme oxygenase 1
ISO
protein:increased expression:serum
RGD
PMID:20013271
RGD:10755701
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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Igf1
insulin-like growth factor 1
ISO
protein:increased expression:serum
RGD
PMID:20013271
RGD:10755701
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
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Il1rn
interleukin 1 receptor antagonist
ISO
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
RGD
PMID:9186886
RGD:6909151
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il27
interleukin 27
ISO
mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)"
RGD
PMID:33280050
RGD:126790550
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Il5
interleukin 5
ISO
protein:increased expression:serum
RGD
PMID:16787590
RGD:11354946
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Kng1
kininogen 1
ISO
protein:increased expression:serum
RGD
PMID:26098644
RGD:11059888
NCBI chr16:22,876,970...22,900,828
Ensembl chr16:22,876,615...22,900,828
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Kng2
kininogen 2
ISO
protein:increased expression:serum
RGD
PMID:26098644
RGD:11059888
NCBI chr16:22,804,602...22,847,851
Ensembl chr16:22,804,604...22,848,232
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Mefv
Mediterranean fever
susceptibility
ISO
DNA:mutations:exons: DNA:mutations:cds: DNA:mutation:exon:p. E148Q (human)
RGD
PMID:22451026 PMID:25232290 PMID:20602240
RGD:7349346 , RGD:11531116 , RGD:7349347
NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961
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Plat
plasminogen activator, tissue
ISO
protein:increased expression:plasma (human)
RGD
PMID:9543574
RGD:11541055
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9002298 PMID:12671112
NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:19967651
RGD:11552576
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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C1qa
complement component 1, q subcomponent, alpha polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8840296
NCBI chr 4:136,623,227...136,626,155
Ensembl chr 4:136,623,228...136,626,114
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1825860
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Masp2
MBL associated serine protease 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12904520
NCBI chr 4:148,679,079...148,699,939
Ensembl chr 4:148,687,011...148,699,956
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Havcr1
hepatitis A virus cellular receptor 1
ISO
ClinVar Annotator: match by term: IgE responsiveness, atopic
ClinVar
PMID:14534576 PMID:21339644
NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405
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Il17a
interleukin 17A
ISO
associated with Nasal Polyps;protein:increased expression:nasal polyps (human)
RGD
PMID:24141678
RGD:9068428
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il21r
interleukin 21 receptor
ISO
ClinVar Annotator: match by term: IgE responsiveness, atopic | ClinVar Annotator: match by term: Ige, elevated level of
ClinVar
PMID:12700598 PMID:17015683 PMID:25741868 PMID:28492532
NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742
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Il4ra
interleukin 4 receptor, alpha
ISO
ClinVar Annotator: match by term: IgE responsiveness, atopic
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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Arg1
arginase, liver
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
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
C-C motif chemokine ligand 11
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
C-C motif chemokine ligand 5
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
ISO
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
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
IMP
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22967010
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159 PMID:22967010
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il18
interleukin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22967010
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22967010
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12755381 PMID:20485159 PMID:22967010
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
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
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)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10733466
NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092
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Selp
selectin, platelet
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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Ager
advanced glycosylation end product-specific receptor
IMP
RGD
PMID:21423669
RGD:5508765
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Ccl2
C-C motif chemokine ligand 2
severity
IMP
RGD
PMID:11160230
RGD:11528533
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl20
C-C motif chemokine ligand 20
IEP
protein:increased expression:lung
RGD
PMID:20926800
RGD:7483599
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Ccr6
C-C motif chemokine receptor 6
disease_progression
IMP
RGD
PMID:17379855
RGD:7483617
NCBI chr17:8,454,875...8,477,353
Ensembl chr17:8,454,875...8,475,973
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:17298426
RGD:5135501
NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
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Cybb
cytochrome b-245, beta polypeptide
IMP
RGD
PMID:24054721
RGD:10450528
NCBI chr X:9,301,493...9,354,005
Ensembl chr X:9,301,491...9,354,010
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Cyp2c38
cytochrome P450, family 2, subfamily c, polypeptide 38
treatment
ISO
DNA:polymorphisms:cds:
RGD
PMID:26861072
RGD:124713410
NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519
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Elane
elastase, neutrophil expressed
IMP
RGD
PMID:24054721
RGD:10450528
NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049
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Il17a
interleukin 17A
severity
IMP
RGD
PMID:21807912
RGD:8698654
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Mbl2
mannose-binding lectin (protein C) 2
ISO
DNA:SNP:exon:rs5030737(human)
RGD
PMID:17311505
RGD:8693758
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Ptx3
pentraxin related gene
severity
ISO
DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527 protein:increased expression:bronchoalveolar lavage fluid (human)
RGD
PMID:30275011 PMID:28487045
RGD:38501097 , RGD:38508892
NCBI chr 3:66,127,308...66,133,227
Ensembl chr 3:66,127,331...66,133,226
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S100b
S100 protein, beta polypeptide, neural
IMP
RGD
PMID:21423669
RGD:5508765
NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
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Tlr2
toll-like receptor 2
IMP
RGD
PMID:16113258
RGD:8553022
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
susceptibility
ISO
DNA:polymorphism:exon:p.D299G(human)
RGD
PMID:18275280
RGD:5130863
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Ccl2
C-C motif chemokine ligand 2
treatment
ISO
RGD
PMID:12917249
RGD:11528529
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Fgf2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
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Il1a
interleukin 1 alpha
ISO
DNA:polymorphism, haplotype:promoter:-889C>T (human)
RGD
PMID:18484169
RGD:4142867
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
ISO
DNA:polymorphism, haplotype: :-511C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Itih4
inter alpha-trypsin inhibitor, heavy chain 4
ISO
protein:increased expression:respiratory system fluid/secretion, serum
RGD
PMID:24360996
RGD:40903005
NCBI chr14:30,608,433...30,623,943
Ensembl chr14:30,608,433...30,624,310
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Mbl2
mannose-binding lectin (protein C) 2
treatment
ISO
RGD
PMID:17335555
RGD:8693746
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Ptx3
pentraxin related gene
susceptibility no_association
ISO
DNA:SNP:intron:rs1840680 (human) protein:increased expression:bronchoalveolar lavage fluid, plasma (human) protein:increased expression:plasma DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527
RGD
PMID:29020397 PMID:29964232 PMID:29020397 PMID:29020397
RGD:38501098 , RGD:38508894 , RGD:38501098 , RGD:38501098
NCBI chr 3:66,127,308...66,133,227
Ensembl chr 3:66,127,331...66,133,226
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Vegfa
vascular endothelial growth factor A
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
DNA:polymorphisms (human)
RGD
PMID:15536412
RGD:5147656
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
ISO
DNA:polymorphisms: :multiple (human)
RGD
PMID:15536412
RGD:5147656
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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H2-Q1
histocompatibility 2, Q region locus 1
ISO
protein:increased expression:peripheral blood (human)
RGD
PMID:32045706
RGD:329961316
NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075
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Il13
interleukin 13
ISO
associated with Dermatitis, Atopic; DNA:missense mutation:cds:p.R130Q (c.389G>A) (rs20541) (human)
RGD
PMID:19220774
RGD:8549541
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il1rn
interleukin 1 receptor antagonist
ISO
RGD
PMID:22146561
RGD:6906895
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome
OMIM ClinVar
PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 PMID:14630794 PMID:14872505 PMID:15020601 PMID:15593220 PMID:16100350 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17393462 PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 PMID:19501000 PMID:20159265 PMID:20182451 PMID:20472245 PMID:21058222 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:21702021 PMID:21810457 PMID:22128899 PMID:22146561 PMID:22193915 PMID:22403613 PMID:22524199 PMID:22529966 PMID:22566169 PMID:22843550 PMID:22935299 PMID:23015306 PMID:23421920 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24365011 PMID:24431285 PMID:24517500 PMID:24649046 PMID:24759409 PMID:24773462 PMID:25038238 PMID:25586466 PMID:25596455 PMID:25639832 PMID:25730877 PMID:25741868 PMID:25766347 PMID:25821352 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26590045 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27191192 PMID:27612399 PMID:27819323 PMID:27943240 PMID:27943647 PMID:27994174 PMID:28028683 PMID:28137891 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28692792 PMID:29047407 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29322034 PMID:29922587 PMID:29977033 PMID:30214525 PMID:30407166 PMID:30431487 PMID:30808881 PMID:32082075 PMID:32199921 PMID:33329557 More...
NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
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Cyp2c38
cytochrome P450, family 2, subfamily c, polypeptide 38
susceptibility
ISO
DNA:polymorphism: :CYP2C19*2(human)
RGD
PMID:23936614
RGD:124713563
NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519
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Sod2
superoxide dismutase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23967348
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Sord
sorbitol dehydrogenase
ISO
ClinVar Annotator: match by term: Idiopathic environmental intolerance
ClinVar
PMID:8622605 PMID:25741868 PMID:32367058 PMID:32457452 PMID:33201363 PMID:33381078 PMID:33397963 PMID:33875678 PMID:34819907 More...
NCBI chr 2:122,065,320...122,095,818
Ensembl chr 2:122,065,230...122,095,821
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Psmb8
proteasome (prosome, macropain) subunit, beta type 8 (large multifunctional peptidase 7)
ISO
ClinVar Annotator: match by term: Nodular erythema digital changes
ClinVar
PMID:20159315 PMID:20534754 PMID:21129723 PMID:21953331 PMID:25741868 PMID:26524591 PMID:28492532 More...
NCBI chr17:34,417,169...34,420,428
Ensembl chr17:34,416,695...34,420,428
G
Ager
advanced glycosylation end product-specific receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33075463
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Cdh17
cadherin 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25918132
NCBI chr 4:11,758,157...11,817,905
Ensembl chr 4:11,758,147...11,817,895
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H2-M2
histocompatibility 2, M region locus 2
susceptibility
ISO
DNA:SNP: :rs1811197(human)
RGD
PMID:24709764
RGD:13506912
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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H2-Oa
histocompatibility 2, O region alpha locus
treatment
ISO
DNA:SNP: :rs3128935(human)
RGD
PMID:24709764
RGD:13506912
NCBI chr17:34,311,353...34,314,286
Ensembl chr17:34,311,314...34,314,208
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H2-T23
histocompatibility 2, T region locus 23
susceptibility
ISO
DNA:SNP: :rs1573294(human)
RGD
PMID:24709764
RGD:13506912
NCBI chr17:36,340,869...36,343,593
Ensembl chr17:36,340,665...36,343,747
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Herc2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25918132
NCBI chr 7:55,699,872...55,884,373
Ensembl chr 7:55,699,944...55,881,548
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Pla2g4a
phospholipase A2, group IVA (cytosolic, calcium-dependent)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27504716
NCBI chr 1:149,705,369...149,837,041
Ensembl chr 1:149,705,369...149,837,041
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Prkca
protein kinase C, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27504716
NCBI chr11:107,824,213...108,237,360
Ensembl chr11:107,824,213...108,234,754
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Prkd1
protein kinase D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27504716
NCBI chr12:50,388,009...50,696,075
Ensembl chr12:50,388,014...50,695,881
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25721048
NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25721048
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Tenm3
teneurin transmembrane protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25918132
NCBI chr 8:48,678,700...51,370,255
Ensembl chr 8:48,680,717...49,296,986
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25721048
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25721048
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Ahr
aryl-hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21804081
NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037
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Il13
interleukin 13
ISO
associated with Dermatitis, Atopic; DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (c.389G>A) (rs1800925, rs20541) (human)
RGD
PMID:19220774
RGD:8549541
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:serum
RGD
PMID:19725899
RGD:5686851
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19389874
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Alox5ap
arachidonate 5-lipoxygenase activating protein
ISO
protein:increased expression:nasal turbinate
RGD
PMID:19364335
RGD:5147461
NCBI chr 5:149,201,814...149,224,963
Ensembl chr 5:149,201,577...149,224,963
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Cat
catalase
ISO
protein:decreased expression:plasma
RGD
PMID:20493834
RGD:5130771
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:nasal turbinate, mucosa (human)
RGD
PMID:9865755
RGD:8548839
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccr2
C-C motif chemokine receptor 2
ISO
mRNA:increased expression:Nasal Mucosa
RGD
PMID:17982926
RGD:4145109
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Ccr5
C-C motif chemokine receptor 5
ISO
mRNA:increased expression:nasal mucosa (human)
RGD
PMID:17982926
RGD:4145109
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Cd40
CD40 antigen
IMP
RGD
PMID:20226305
RGD:5132269
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd86
CD86 antigen
ISO
protein:increased expression:nasal mucosa, dendritic cell (human)
RGD
PMID:17088138
RGD:4892343
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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Chia1
chitinase, acidic 1
ISO
mRNA, protein:increased expression:turbinate, mucosa (human)
RGD
PMID:20422678
RGD:5037226
NCBI chr 3:106,020,698...106,039,434
Ensembl chr 3:106,020,545...106,039,436
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Egr1
early growth response 1
ISO
DNA:snp:5' utr:g.-4071A>G rs7729723 (human)
RGD
PMID:19833116
RGD:5131984
NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037
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F2rl1
F2R like trypsin receptor 1
ISO
RGD
PMID:17727088
RGD:4892590
NCBI chr13:95,648,226...95,661,748
Ensembl chr13:95,648,240...95,661,735
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Gstp1
glutathione S-transferase, pi 1
susceptibility
ISO
DNA:polymorphism:exon:p.I105V (rs1695) (human)
RGD
PMID:17181111
RGD:4142523
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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Hmox1
heme oxygenase 1
ISO
mRNA, protein:increased expression: nasal mucosa
RGD
PMID:16540907
RGD:4145406
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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Icam1
intercellular adhesion molecule 1
IEP ISO
protein:increased expression:lung, endothelium (mouse) protein:increased secretion:nasopharynx (human)
RGD
PMID:19968652 PMID:19047814
RGD:4145464 , RGD:4145520
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Ifngr1
interferon gamma receptor 1
ISO
DNA: SNP: Leu467Pro
RGD
PMID:12851715
RGD:6480431
NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977
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Il13
interleukin 13
ISO
mRNA, protein:increased expression:nasal mucosa
RGD
PMID:8520776
RGD:4782826
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il17a
interleukin 17A
severity
ISO
protein:increased expression:serum
RGD
PMID:19226302
RGD:4889151
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il18
interleukin 18
susceptibility
ISO
DNA:SNP:promoter:c. -607A>C (rs1946518) (human)
RGD
PMID:16406079
RGD:4889924
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1a
interleukin 1 alpha
ISO
DNA:polymorphism:exon:c.4845G>T (human)
RGD
PMID:14533660
RGD:4142859
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Il1r1
interleukin 1 receptor, type I
ISO
RGD
PMID:18637763
RGD:5037238
NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417
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Il2
interleukin 2
ISO
protein:decreased expression:serum:
RGD
PMID:17608155
RGD:8662959
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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Il4
interleukin 4
treatment
ISO
protein:increased expression:serum
RGD
PMID:21171297 PMID:9237816 PMID:15329007
RGD:5128559 , RGD:7829817 , RGD:7829804
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Il5
interleukin 5
ISO
protein: increased levels: sputum
RGD
PMID:22186238
RGD:5687140
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:nasal mucosa:
RGD
PMID:19786210
RGD:5130872
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:nasal mucosa:
RGD
PMID:19786210
RGD:5130872
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Nos2
nitric oxide synthase 2, inducible
IEP
protein:increased expression:nasal mucosa
RGD
PMID:14587983
RGD:4892078
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Nos3
nitric oxide synthase 3, endothelial cell
ISO
DNA:snp:promoter:g.-786T>C (human)
RGD
PMID:18086269
RGD:4892054
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
protein:altered expression:nasal mucosa
RGD
PMID:20185258
RGD:4892593
NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
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Pparg
peroxisome proliferator activated receptor gamma
ISO
mRNA, protein:increased expression:nasal mucosa (human)
RGD
PMID:17116814
RGD:8552811
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
protein:increased expression:respiratory system epithelium
RGD
PMID:19364335
RGD:5147461
NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
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Tbxa2r
thromboxane A2 receptor
treatment
ISO
RGD
PMID:15247523
RGD:11059532
NCBI chr10:81,164,102...81,171,008
Ensembl chr10:81,164,565...81,171,006
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Pla2g7
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
ISO
ClinVar Annotator: match by term: Platelet-activating factor acetylhydrolase deficiency CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:8675689 PMID:9412624 PMID:10194471 PMID:10733466 PMID:16787988 PMID:25741868 PMID:28406212 More...
NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092
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Ada
adenosine deaminase
ISO
protein:increased activity:pleural fluid: protein:increased activity:serum: protein:increased expression:serum:
RGD
PMID:21860532 PMID:1818842 PMID:1689629 PMID:18357489
RGD:152995280 , RGD:152998934 , RGD:152995292 , RGD:152995288
NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159
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Ccl22
C-C motif chemokine ligand 22
ISO
RGD
PMID:20337996
RGD:4891473
NCBI chr 8:95,472,312...95,478,016
Ensembl chr 8:95,472,218...95,478,327
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:19159432
RGD:4145106
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Ccr5
C-C motif chemokine receptor 5
ISO
protein:increased expression:pleural fluid, natural killer cell (human)
RGD
PMID:19159432
RGD:4145106
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Foxp3
forkhead box P3
disease_progression
ISO
associated with human immunodeficiency virus infectious disease;
RGD
PMID:21303360
RGD:36947878
NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484
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Il1b
interleukin 1 beta
ISO
DNA:polymorphism: :3953T>C (human)
RGD
PMID:10377182
RGD:4143226
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
ISO
DNA:repeat (human)
RGD
PMID:10377182
RGD:4143226
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il27
interleukin 27
exacerbates
ISO
associated with Pleural Effusion;protein:increased expression:pleural fluid (human) protein:increased expression:alveolar system (human)
RGD
PMID:25753767 PMID:31819557 PMID:23962500 PMID:28844060
RGD:126790505 , RGD:126790549 , RGD:126790523 , RGD:126790517
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Il33
interleukin 33
ISO
protein:increased expression:pleural fluid:
RGD
PMID:23301222
RGD:39939042
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:pleura:
RGD
PMID:18715875
RGD:5129700
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:18295348
RGD:4144193
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tnc
tenascin C
ISO
protein:increased expression:pleura
RGD
PMID:10950882
RGD:4889594
NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252
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Tpmt
thiopurine methyltransferase
IAGP ISO
OMIM:610460 ClinVar Annotator: match by term: Thiopurine S-methyltransferase deficiency CTD Direct Evidence: marker/mechanism
MouseDO ClinVar CTD
PMID:1960624 PMID:7862671 PMID:8561894 PMID:8644731 PMID:9177237 PMID:9246020 PMID:9931345 PMID:9931346 PMID:10208641 PMID:10751626 PMID:15819814 PMID:16476125 PMID:17885628 PMID:25741868 More...
NCBI chr13:47,175,463...47,196,833
Ensembl chr13:47,175,958...47,198,213
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Tpmt
thiopurine methyltransferase
ISO
ClinVar Annotator: match by term: THIOPURINES, POOR METABOLISM OF, 1
OMIM ClinVar
PMID:8561894 PMID:9931345 PMID:25741868
NCBI chr13:47,175,463...47,196,833
Ensembl chr13:47,175,958...47,198,213
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Nudt15
nudix hydrolase 15
ISO
ClinVar Annotator: match by term: Thiopurines, poor metabolism of, 2
OMIM ClinVar
PMID:22992668 PMID:25108385 PMID:25624441 PMID:26033531 PMID:26076924 PMID:26405151 PMID:26503813 PMID:26590936 PMID:26735160 PMID:26878724 PMID:27095468 PMID:27193222 PMID:27416873 PMID:27558924 PMID:27577869 PMID:27604507 PMID:28088792 PMID:28146264 PMID:28418010 PMID:28445187 PMID:28659275 PMID:29702976 PMID:29704867 PMID:29720126 PMID:29867468 PMID:29923122 PMID:29967377 PMID:30035323 PMID:30048756 PMID:30101994 PMID:30728528 PMID:31024313 More...
NCBI chr14:73,756,320...73,785,682
Ensembl chr14:73,756,317...73,785,682
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Ptx3
pentraxin related gene
ISO
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
RGD
PMID:29964232
RGD:38508894
NCBI chr 3:66,127,308...66,133,227
Ensembl chr 3:66,127,331...66,133,226
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Ccl11
C-C motif chemokine ligand 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17085522
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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Ccl6
C-C motif chemokine ligand 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17085522
NCBI chr11:83,478,712...83,483,913
Ensembl chr11:83,478,708...83,483,913
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Ccl8
C-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17085522
NCBI chr11:82,006,011...82,007,625
Ensembl chr11:82,006,011...82,007,625
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Ccl9
C-C motif chemokine ligand 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17085522
NCBI chr11:83,463,743...83,469,462
Ensembl chr11:83,463,745...83,469,462
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Ccr3
C-C motif chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20022477
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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Cldn4
claudin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30608172
NCBI chr 5:134,973,977...134,975,788
Ensembl chr 5:134,973,973...134,975,788
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Cldn5
claudin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30608172
NCBI chr16:18,595,597...18,597,012
Ensembl chr16:18,595,597...18,597,012
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Cxcl1
C-X-C motif chemokine ligand 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23056391
NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
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Cxcl3
C-X-C motif chemokine ligand 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23056391
NCBI chr 5:90,933,960...90,935,952
Ensembl chr 5:90,933,962...90,937,459
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Cxcl5
C-X-C motif chemokine ligand 5
IEP
mRNA:increased expression:lung
RGD
PMID:18417511
RGD:5135242
NCBI chr 5:90,907,157...90,909,484
Ensembl chr 5:90,907,219...90,909,483
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F2rl1
F2R like trypsin receptor 1
ISO
RGD
PMID:20186875
RGD:4892588
NCBI chr13:95,648,226...95,661,748
Ensembl chr13:95,648,240...95,661,735
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Hrh1
histamine receptor H1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12095164
NCBI chr 6:114,374,897...114,459,432
Ensembl chr 6:114,374,897...114,460,257
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Hspa5
heat shock protein 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24211530
NCBI chr 2:34,662,102...34,666,541
Ensembl chr 2:34,661,982...34,667,559
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Il10
interleukin 10
IDA
RGD
PMID:20583974
RGD:4140460
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
susceptibility
IEP ISO
mRNA:increased expression:lung DNA:SNP, missense mutation:promoter, exon:-1112C>T, p.R130Q (human)
RGD
PMID:19564030 PMID:18849614
RGD:4145637 , RGD:8549507
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il15
interleukin 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18394133
NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
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Il1a
interleukin 1 alpha
IMP
RGD
PMID:12663678
RGD:4143222
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
IMP
RGD
PMID:12663678
RGD:4143222
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
IMP
associated with Fungal Lung Diseases
RGD
PMID:25746970
RGD:39938968
NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575
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Il1rn
interleukin 1 receptor antagonist
IMP
RGD
PMID:12663678
RGD:4143222
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il27
interleukin 27
IMP
RGD
PMID:20817868
RGD:4145651
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Il33
interleukin 33
treatment
IDA
RGD
PMID:25424936
RGD:40400692
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Il4
interleukin 4
IMP ISO
associated with Pneumonia, Pneumocystis carinii CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18394133 PMID:21343358
RGD:5128506
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18394133
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Mbl2
mannose-binding lectin (protein C) 2
susceptibility
ISO
DNA:SNP:intron:1011G>A(human)
RGD
PMID:16487239
RGD:8693711
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Mt1
metallothionein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17085522
NCBI chr 8:94,905,214...94,906,955
Ensembl chr 8:94,905,710...94,906,955
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Mt2
metallothionein 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17085522
NCBI chr 8:94,899,246...94,900,195
Ensembl chr 8:94,899,292...94,900,196
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Nos2
nitric oxide synthase 2, inducible
treatment
IDA ISO
RGD
PMID:19800904 PMID:21983654
RGD:4891497 , RGD:8549812
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Nos3
nitric oxide synthase 3, endothelial cell
ISO
DNA:polymorphism: :c. -786C>T (human)
RGD
PMID:18086269
RGD:4892054
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18441283
NCBI chr 6:124,697,670...124,715,672
Ensembl chr 6:124,697,670...124,715,677
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24211530
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Slc30a4
solute carrier family 30 (zinc transporter), member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17085522
NCBI chr 2:122,523,153...122,544,583
Ensembl chr 2:122,523,153...122,544,583
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Slc39a1
solute carrier family 39 (zinc transporter), member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17085522
NCBI chr 3:90,155,512...90,160,923
Ensembl chr 3:90,155,479...90,160,919
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Slc39a14
solute carrier family 39 (zinc transporter), member 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17085522
NCBI chr14:70,540,916...70,588,873
Ensembl chr14:70,540,918...70,588,874
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Slc39a4
solute carrier family 39 (zinc transporter), member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17085522
NCBI chr15:76,496,583...76,501,579
Ensembl chr15:76,496,583...76,501,584
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Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:polymorphisms,haplotype: :−2027A>G, ¿1608T>C(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10835634 PMID:21704886
RGD:7800728
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18394133
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tslp
thymic stromal lymphopoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28329851
NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850
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Upp1
uridine phosphorylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24211530
NCBI chr11:9,068,008...9,086,170
Ensembl chr11:9,068,103...9,086,170
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30608172
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0302 (human)
RGD
PMID:15577839
RGD:5147654
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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Alox5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:16677242
RGD:5147463
NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139
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Apoa4
apolipoprotein A-IV
resistance
ISO
protein:increased expression:blood serum (human)
RGD
PMID:20810159
RGD:5685642
NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757
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Bdnf
brain derived neurotrophic factor
severity
ISO
protein:increased expression:blood, nasal cavity epithelium
RGD
PMID:18266897
RGD:5144117
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased expression:inferior turbinate, epithelium (human)
RGD
PMID:20459697
RGD:4891379
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Cma1
chymase 1, mast cell
ISO
protein:increased expression:nasal mucosa, mast cell (human)
RGD
PMID:11549546
RGD:5128839
NCBI chr14:56,178,908...56,182,132
Ensembl chr14:56,178,908...56,182,132
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Fga
fibrinogen alpha chain
ISO
RGD
PMID:21887273
RGD:5688767
NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934
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Gsto1
glutathione S-transferase omega 1
ISO
protein:decreased expression;T lymphocyte:
RGD
PMID:21410266
RGD:5491008
NCBI chr19:47,843,412...47,853,229
Ensembl chr19:47,843,409...47,853,229
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*05 (human) DNA:polymorphisms, haplotype:cds:HLA-DQB1*0301, HLA-DQB1*0501 (human)
RGD
PMID:22032123 PMID:9641569
RGD:7421561 , RGD:7421576
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased secretion:nasopharynx, secretion (human)
RGD
PMID:20128420
RGD:4145459
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Ifngr1
interferon gamma receptor 1
ISO
DNA: SNP: Leu467Pro
RGD
PMID:12851715
RGD:6480431
NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977
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Il10
interleukin 10
treatment
ISO
RGD
PMID:19505388
RGD:7365025
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il18
interleukin 18
susceptibility no_association
ISO
DNA:SNPs:promoters, exon:multiple DNA:SNPs:promoters:multiple
RGD
PMID:12532106 PMID:12532106
RGD:8655871 , RGD:8655871
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il4
interleukin 4
ISO
protein:increased expression:serum mRNA:increased expression:nose:
RGD
PMID:9237816 PMID:7551298
RGD:7829817 , RGD:8662960
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Kdr
kinase insert domain protein receptor
ISO
protein:increased expression:nasal cavity of mucosa:
RGD
PMID:17651148
RGD:8551771
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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Mc1r
melanocortin 1 receptor
no_association
IEP
RGD
PMID:20357480
RGD:5687317
NCBI chr 8:124,133,839...124,137,483
Ensembl chr 8:124,133,846...124,137,483
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Mmp9
matrix metallopeptidase 9
ISO
DNA:SNPs:promoter, intron, cds:-1590C>T, 2127G>T, p.R668Q (rs3918242, rs2274755, rs17577) (human)
RGD
PMID:22237587
RGD:8547819
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Nod1
nucleotide-binding oligomerization domain containing 1
susceptibility
ISO
DNA:SNP: :rs2075817 (human)
RGD
PMID:16918516
RGD:5131519
NCBI chr 6:54,900,927...54,949,655
Ensembl chr 6:54,900,934...54,949,597
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Nod2
nucleotide-binding oligomerization domain containing 2
susceptibility
ISO
DNA:polymorphisms:5'UTR/exon, exon:rs5743266, rs2066842 (human)
RGD
PMID:16008671
RGD:5131477
NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
protein:increased expression:respiratory system epithelium
RGD
PMID:19364335
RGD:5147461
NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
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Scgb1a1
secretoglobin, family 1A, member 1
ISO
mRNA, protein:decreased expression:nasal lavage fluid
RGD
PMID:15836756
RGD:5144234
NCBI chr19:9,061,006...9,065,320
Ensembl chr19:9,061,000...9,065,322
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Tlr3
toll-like receptor 3
ISO
protein:decreased expression:bone marrow, blood, eosinophil (human)
RGD
PMID:19752565
RGD:5129130
NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117
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Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:polymorphisms:cds:p.D299G, T399I (human)
RGD
PMID:18517079
RGD:4144192
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Vegfa
vascular endothelial growth factor A
ISO
mRNA,protein:increased expression:nasal biopsies,nasal lavage fluid:
RGD
PMID:12633568
RGD:7483595
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:350256 PMID:9380243
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Pnpla6
patatin-like phospholipase domain containing 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23418070
NCBI chr 8:3,565,341...3,594,267
Ensembl chr 8:3,565,384...3,594,267
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Ifng
interferon gamma
resistance
IDA
RGD
PMID:20817868
RGD:4145651
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Il1b
interleukin 1 beta
ISO
protein:increased expression:lung
RGD
PMID:9927362
RGD:4143184
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il5
interleukin 5
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:10934091
RGD:4890960
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Mpo
myeloperoxidase
ISO
protein:increased expression:serum
RGD
PMID:10731862
RGD:5130994
NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239
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Alb
albumin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12239465
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Apcs
amyloid P component, serum
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 1:172,721,528...172,722,516
Ensembl chr 1:172,721,528...172,722,608
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C1qa
complement component 1, q subcomponent, alpha polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 4:136,623,227...136,626,155
Ensembl chr 4:136,623,228...136,626,114
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C1qc
complement component 1, q subcomponent, C chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 4:136,617,115...136,620,225
Ensembl chr 4:136,617,115...136,620,376
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Cav1
caveolin 1, caveolae protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451
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Celf2
CUGBP, Elav-like family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 2:6,544,505...7,401,345
Ensembl chr 2:6,544,505...7,514,374
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Cfhr1
complement factor H-related 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 1:139,474,802...139,487,960
Ensembl chr 1:139,474,791...139,488,010
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Cfp
complement factor properdin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr X:20,791,693...20,797,794
Ensembl chr X:20,791,693...20,797,794
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Clu
clusterin
ISO
mRNA:decreased expression:conjunctiva
RGD
PMID:12036968
RGD:8699507
NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996
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Cops5
COP9 signalosome subunit 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 1:10,094,825...10,108,384
Ensembl chr 1:10,094,826...10,108,393
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Crp
C-reactive protein, pentraxin-related
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Csf3
colony stimulating factor 3 (granulocyte)
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11321886
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
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Cul1
cullin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 6:47,430,516...47,503,078
Ensembl chr 6:47,430,332...47,503,073
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Cul4a
cullin 4A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 8:13,155,623...13,197,940
Ensembl chr 8:13,155,621...13,197,940
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Derl1
Der1-like domain family, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr15:57,732,898...57,755,814
Ensembl chr15:57,732,898...57,755,844
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Elmo1
engulfment and cell motility 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr13:20,274,677...20,792,523
Ensembl chr13:20,274,766...20,792,523
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Ep300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278
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Fbxo6
F-box protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 4:148,230,173...148,236,592
Ensembl chr 4:148,230,173...148,236,597
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Gstm1
glutathione S-transferase, mu 1
ISO
RGD
PMID:28689274
RGD:14700974
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*0601 (human)
RGD
PMID:8841298
RGD:7483570
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-M2
histocompatibility 2, M region locus 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human)
CTD RGD
PMID:15057820 PMID:15743917 PMID:16538176 PMID:18855540 PMID:19694795 PMID:19915237 PMID:20235791 PMID:20485159 PMID:21428768 PMID:23692434 PMID:25099164 More...
RGD:7365090
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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H2-Q1
histocompatibility 2, Q region locus 1
susceptibility
ISO
ClinVar Annotator: match by term: Hypersensitivity syndrome, carbamazepine-induced, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:16538176 PMID:21428769 PMID:23588310
NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075
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H2-Q4
histocompatibility 2, Q region locus 4
susceptibility
ISO
DNA:polymorphisms:cds:HLA-B*5801 (human, Japanese) DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human)
RGD
PMID:19018717 PMID:23692434
RGD:7364874 , RGD:7365090
NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Lbp
lipopolysaccharide binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 2:158,148,413...158,174,772
Ensembl chr 2:158,148,413...158,174,772
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Lrg1
leucine-rich alpha-2-glycoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr17:56,426,678...56,428,946
Ensembl chr17:56,426,678...56,429,001
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Mif
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9372356
NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
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Mir18
microRNA 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr14:115,281,283...115,281,378
Ensembl chr14:115,281,283...115,281,378
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Nedd4
neural precursor cell expressed, developmentally down-regulated 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 9:72,569,613...72,657,133
Ensembl chr 9:72,569,628...72,657,134
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Nfkbiz
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, zeta
IAGP
MouseDO
NCBI chr16:55,631,740...55,659,018
Ensembl chr16:55,631,738...55,659,262
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Nos2
nitric oxide synthase 2, inducible
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10620138
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Nucb1
nucleobindin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 7:45,142,300...45,159,813
Ensembl chr 7:45,139,882...45,159,830
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Orm1
orosomucoid 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 4:63,262,793...63,266,400
Ensembl chr 4:63,262,797...63,266,400
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Orm2
orosomucoid 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 4:63,280,543...63,284,114
Ensembl chr 4:63,280,686...63,284,115
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Parp1
poly (ADP-ribose) polymerase family, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819
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Pml
promyelocytic leukemia
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 9:58,125,359...58,157,077
Ensembl chr 9:58,125,359...58,157,069
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Pros1
protein S (alpha)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr16:62,674,670...62,749,709
Ensembl chr16:62,674,670...62,749,709
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Psmc5
protease (prosome, macropain) 26S subunit, ATPase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr11:106,147,011...106,153,938
Ensembl chr11:106,146,980...106,153,946
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Ptger3
prostaglandin E receptor 3 (subtype EP3)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21966456
NCBI chr 3:157,272,459...157,350,392
Ensembl chr 3:157,272,529...157,351,525
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Ptgis
prostaglandin I2 (prostacyclin) synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 2:167,045,114...167,095,069
Ensembl chr 2:167,033,725...167,082,524
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Rbx1
ring-box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr15:81,350,517...81,360,570
Ensembl chr15:81,350,497...81,360,570
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Tnf
tumor necrosis factor
ISO
protein:increased expression:blister:
RGD
PMID:9852250
RGD:7401184
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Vcp
valosin containing protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25811541
NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507
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Vwf
Von Willebrand factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34142820
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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Mefv
Mediterranean fever
ISO
ClinVar Annotator: match by term: Acute febrile neutrophilic dermatosis | ClinVar Annotator: match by term: Gomm Button disease | ClinVar Annotator: match by term: MEFV-related condition
OMIM ClinVar
PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 PMID:9336425 PMID:9527614 PMID:9536098 PMID:9668175 PMID:9715731 PMID:9781020 PMID:10024914 PMID:10090880 PMID:10234504 PMID:10364520 PMID:10447272 PMID:10612841 PMID:10737992 PMID:10737995 PMID:10787449 PMID:10787450 PMID:10842288 PMID:10852276 PMID:10854115 PMID:10879615 PMID:10905662 PMID:11017802 PMID:11175300 PMID:11464238 PMID:11464248 PMID:11468188 PMID:11528510 PMID:11588211 PMID:11903360 PMID:11938447 PMID:11977178 PMID:12064853 PMID:12105243 PMID:12124996 PMID:12401847 PMID:12687559 PMID:12908875 PMID:12929299 PMID:12955725 PMID:14578331 PMID:14578333 PMID:14679589 PMID:14727057 PMID:14985395 PMID:15018633 PMID:15024140 PMID:15024744 PMID:15168590 PMID:15300846 PMID:15458961 PMID:15475974 PMID:15502081 PMID:15643295 PMID:15717684 PMID:15745878 PMID:15805719 PMID:15942916 PMID:15951859 PMID:16100353 PMID:16179998 PMID:16255051 PMID:16378925 PMID:16403826 PMID:16439335 PMID:16439437 PMID:16614989 PMID:16627024 PMID:16730661 PMID:16785446 PMID:16889173 PMID:17276496 PMID:17331080 PMID:17489852 PMID:17566872 PMID:17576681 PMID:17665427 PMID:17665448 PMID:18097735 PMID:18307385 PMID:18328141 PMID:18353061 PMID:18386244 PMID:18409191 PMID:18496034 PMID:18609258 PMID:18662100 PMID:18691160 PMID:19026119 PMID:19151977 PMID:19193696 PMID:19253030 PMID:19302049 PMID:19449169 PMID:19466506 PMID:19531756 PMID:19729025 PMID:19777236 PMID:19786432 PMID:19790133 PMID:19820229 PMID:19845843 PMID:19863562 PMID:19929404 PMID:19934083 PMID:19934105 PMID:19967574 PMID:20008920 PMID:20008924 PMID:20041150 PMID:20044784 PMID:20051664 PMID:20165923 PMID:20177433 PMID:20301405 PMID:20437121 PMID:20483145 PMID:20485448 PMID:20534143 PMID:20602240 PMID:20645115 PMID:20669279 PMID:20721559 PMID:20890251 PMID:21153919 PMID:21228398 PMID:21246368 PMID:21290976 PMID:21358337 PMID:21413889 PMID:21520333 PMID:21562927 PMID:21598804 PMID:21598806 PMID:21600797 PMID:21623663 PMID:21727933 PMID:21978701 PMID:21995303 PMID:22019805 PMID:22037353 PMID:22190688 PMID:22261745 PMID:22281876 PMID:22451026 PMID:22467954 PMID:22505824 PMID:22532615 PMID:22566169 PMID:22580583 PMID:22614345 PMID:22661645 PMID:22722202 PMID:22810696 PMID:22903357 PMID:22934972 PMID:22975760 PMID:22995991 PMID:23006543 PMID:23010357 PMID:23031807 PMID:23038988 PMID:23137073 PMID:23155201 PMID:23206577 PMID:23217869 PMID:23280696 PMID:23325590 PMID:23334425 PMID:23400211 PMID:23437051 PMID:23463692 PMID:23505238 PMID:23505242 PMID:23588594 PMID:23592051 PMID:23633568 PMID:23716950 PMID:23800337 PMID:23844200 PMID:23847694 PMID:23862117 PMID:23907647 PMID:23973724 PMID:23981758 PMID:24071932 PMID:24082139 PMID:24117178 PMID:24123366 PMID:24158885 PMID:24233262 PMID:24251727 PMID:24261781 PMID:24263150 PMID:24289199 PMID:24301775 PMID:24318677 PMID:24369413 PMID:24381109 PMID:24433404 PMID:24469716 PMID:24630722 PMID:24702757 PMID:24760114 PMID:24797171 PMID:24862656 PMID:24929125 PMID:24965843 PMID:25006247 PMID:25036384 PMID:25073670 PMID:25088882 PMID:25261100 PMID:25286988 PMID:25332561 PMID:25393764 PMID:25615955 PMID:25626331 PMID:25648235 PMID:25671271 PMID:25703702 PMID:25741868 PMID:25760918 PMID:25793047 PMID:25810876 PMID:25821352 PMID:25866490 PMID:25959027 PMID:25974247 PMID:26003477 PMID:26005881 PMID:26028444 PMID:26078663 PMID:26131005 PMID:26215181 PMID:26247045 PMID:26299986 PMID:26351556 PMID:26360812 PMID:26399837 PMID:26413094 PMID:26467025 PMID:26510601 PMID:26537665 PMID:26574972 PMID:26585190 PMID:26690517 PMID:26722138 PMID:26759267 PMID:26843738 PMID:26933204 PMID:27030597 PMID:27364639 PMID:27457448 PMID:27473114 PMID:27513391 PMID:27621632 PMID:27659338 PMID:27872624 PMID:27884173 PMID:27956278 PMID:27980538 PMID:27994174 PMID:28001092 PMID:28211254 PMID:28289585 PMID:28302131 PMID:28340799 PMID:28386255 PMID:28421071 PMID:28483595 PMID:28492532 PMID:28573371 PMID:28590056 PMID:28597968 PMID:28678379 PMID:28814775 PMID:28835462 PMID:28863210 PMID:28927886 PMID:28943464 PMID:29047407 PMID:29080837 PMID:29148036 PMID:29159471 PMID:29178647 PMID:29260407 PMID:29314707 PMID:29393966 PMID:29543225 PMID:29579081 PMID:29599418 PMID:29735907 PMID:29756710 PMID:29808155 PMID:30171907 PMID:30235678 PMID:30355575 PMID:30409984 PMID:30476289 PMID:30487145 PMID:30513227 PMID:30546872 PMID:30686512 PMID:30698071 PMID:30783801 PMID:30887796 PMID:30915208 PMID:31088470 PMID:31204589 PMID:31264586 PMID:31329540 PMID:31411330 PMID:31512232 PMID:31522233 PMID:31531243 PMID:31589380 PMID:31646357 PMID:31693653 PMID:31803701 PMID:31989427 PMID:31998953 PMID:32199921 PMID:32312770 PMID:32359823 PMID:32398039 PMID:32401353 PMID:32441320 PMID:32447396 PMID:32461654 PMID:32676558 PMID:32716837 PMID:32741030 PMID:32818295 PMID:32824452 PMID:32853466 PMID:32909274 PMID:33079202 PMID:33223529 PMID:33440462 PMID:33497256 PMID:33560333 PMID:33715276 PMID:33726481 PMID:33733382 PMID:33738724 PMID:33747591 PMID:33813620 PMID:34426522 PMID:34606655 PMID:34612144 PMID:34665572 PMID:34739572 PMID:34880353 PMID:34918114 PMID:34988684 PMID:35061158 PMID:35098403 PMID:35156637 PMID:35190906 PMID:35358658 PMID:35490273 PMID:35780723 PMID:36076017 PMID:37481715 More...
NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:skin
RGD
PMID:21658319
RGD:8657060
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:skin
RGD
PMID:21658319
RGD:8657060
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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C8a
complement component 8, alpha polypeptide
ISO
ClinVar Annotator: match by term: Type I complement component 8 deficiency
OMIM ClinVar
PMID:975502 PMID:7649542 PMID:9759902 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 4:104,672,876...104,733,684
Ensembl chr 4:104,672,876...104,733,595
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C8b
complement component 8, beta polypeptide
ISO
ClinVar Annotator: match by term: C8B-related condition | ClinVar Annotator: match by term: Type II complement component 8 deficiency
OMIM ClinVar
PMID:7594510 PMID:8098723 PMID:8365729 PMID:9536098 PMID:14767900 PMID:17576681 PMID:19434484 PMID:24033266 PMID:25525159 PMID:25741868 PMID:27183977 PMID:28368462 PMID:28492532 PMID:30609409 PMID:31440263 PMID:31980526 More...
NCBI chr 4:104,623,514...104,661,745
Ensembl chr 4:104,623,514...104,661,745
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Adrb2
adrenergic receptor, beta 2
susceptibility
ISO
DNA:polymorphism: :46A>G(human)
RGD
PMID:18159608
RGD:8548486
NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8458210
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Alox5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139
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Bdnf
brain derived neurotrophic factor
ISO
protein:increased expression:serum,skin:
RGD
PMID:21676041
RGD:8657027
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO
DNA:polymorphism,haplotype::190G>A(human)
RGD
PMID:23727176
RGD:8551831
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:15721839
RGD:6893392
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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Ccr5
C-C motif chemokine receptor 5
ISO
DNA:frameshift mutation, haplotype: :p.S185_T195del (rs333) (human)
RGD
PMID:23727176
RGD:8551831
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Crp
C-reactive protein, pentraxin-related
ISO
protein:increased expression:serum
RGD
PMID:22348297
RGD:6482310
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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F12
coagulation factor XII (Hageman factor)
ISO
ClinVar Annotator: match by term: Urticaria
ClinVar
PMID:16638441 PMID:25741868
NCBI chr13:55,565,771...55,574,617
Ensembl chr13:55,565,771...55,574,606
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F2
coagulation factor II
ISO
protein:increased expression:plasma
RGD
PMID:21488867
RGD:5147756
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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Fcer1a
Fc receptor, IgE, high affinity I, alpha polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481 PMID:20485159
NCBI chr 1:173,048,836...173,054,799
Ensembl chr 1:173,048,851...173,054,781
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Gstm1
glutathione S-transferase, mu 1
ISO
DNA:deletion: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16433794 PMID:16433794
RGD:5490559
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
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
ISO
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20485159 PMID:20559009
RGD:5147574
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Hnmt
histamine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr 2:23,892,923...23,939,756
Ensembl chr 2:23,892,922...23,939,406
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Icam1
intercellular adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12121561
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Il18
interleukin 18
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
CTD RGD
PMID:18204966 PMID:24490166 PMID:21692767
RGD:8655890 , RGD:8655894
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12121561
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Mefv
Mediterranean fever
ISO
ClinVar Annotator: match by term: Urticaria
ClinVar
PMID:9668175 PMID:10090880 PMID:10612841 PMID:10787450 PMID:10842288 PMID:11464238 PMID:11977178 PMID:15018633 PMID:15024744 PMID:16730661 PMID:17489852 PMID:19253030 PMID:19934083 PMID:20041150 PMID:20534143 PMID:21246368 PMID:21413889 PMID:21978701 PMID:22614345 PMID:22903357 PMID:23505242 PMID:23588594 PMID:23907647 PMID:23981758 PMID:24251727 PMID:24469716 PMID:24929125 PMID:25615955 PMID:25741868 PMID:26078663 PMID:28492532 PMID:29047407 PMID:29543225 PMID:29599418 PMID:31989427 PMID:32312770 PMID:33733382 PMID:34426522 PMID:35098403 More...
NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961
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Mpo
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18204966
NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239
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Ngfr
nerve growth factor receptor (TNFR superfamily, member 16)
ISO
protein:decreased expression:skin (human)
RGD
PMID:12653731
RGD:5508479
NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561
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Nlrp3
NLR family, pyrin domain containing 3
susceptibility
ISO
familial cold autoinflammatory syndrome, OMIM:120100;DNA:missense mutations: :multiple
RGD
PMID:11687797
RGD:1600862
NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
ISO
DNA:SNPs, haplotype: :rs1310182, rs2488457, rs3811021 (human)
RGD
PMID:22722472
RGD:7829761
NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563
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Sele
selectin, endothelial cell
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12121561
NCBI chr 1:163,867,200...163,886,056
Ensembl chr 1:163,875,773...163,885,246
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Sod2
superoxide dismutase 2, mitochondrial
ISO
protein:increased expression:skin
RGD
PMID:12780723
RGD:8547524
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19138248
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12121561 PMID:19250144 PMID:20485159
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Vcam1
vascular cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12121561
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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