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.
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
DNA:polymorphism (human)
RGD
PMID:14593914
RGD:4889126
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Egr1
early growth response 1
ISO
RGD
PMID:17384085
RGD:5132266
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Hdac2
histone deacetylase 2
treatment
IEP
RGD
PMID:22708526
RGD:9590258
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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Ifng
interferon gamma
resistance
ISO
RGD
PMID:20953328
RGD:4145525
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Adrb2
adrenoceptor beta 2
ISO
RGD
PMID:17687719
RGD:4145098
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Ccl11
C-C motif chemokine ligand 11
severity
ISO
protein:increased expression:nasal mucus associated with Respiratory Syncytial Virus Infections
RGD
PMID:17297249 PMID:15681407
RGD:4145460 , RGD:4145415
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Cd40
CD40 molecule
ISO
RGD
PMID:19470255
RGD:5132271
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd86
CD86 molecule
ISO
protein:decreased expression:myeloid dendritic cell (mouse)
RGD
PMID:20046053
RGD:4892291
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Crp
C-reactive protein
severity
ISO
RGD
PMID:21284715
RGD:5131282
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Cysltr1
cysteinyl leukotriene receptor 1
ISO
associated with Pneumovirus Infections
RGD
PMID:16337014
RGD:4843953
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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Il17a
interleukin 17A
susceptibility
ISO
DNA:SNP:promoter:rs2275913 (human)
RGD
PMID:20437253
RGD:4889139
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1b
interleukin 1 beta
ISO
protein:increased expression:lung
RGD
PMID:8608647
RGD:4143192
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:lung
RGD
PMID:8608647
RGD:4143192
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
DNA:polymorphisms:promoter:rs885454,rs17235353, rs7115457 (human)
RGD
PMID:15709052
RGD:7349353
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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Ace
angiotensin I converting enzyme
IMP
RGD
PMID:17097496
RGD:4140933
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adora2a
adenosine A2a receptor
ISO
RGD
PMID:19766783
RGD:4890362
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
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Ccl17
C-C motif chemokine ligand 17
ISO
RGD
PMID:18785972
RGD:4145604
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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Ccl2
C-C motif chemokine ligand 2
IMP
RGD
PMID:14611812
RGD:2307195
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl22
C-C motif chemokine ligand 22
ISO
RGD
PMID:20628341
RGD:4891471
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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Ccl5
C-C motif chemokine ligand 5
IEP IMP
mRNA:increased expression:lung (rat)
RGD
PMID:19840961 PMID:14611812
RGD:4889978 , RGD:2307195
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccl7
C-C motif chemokine ligand 7
IEP
protein:increased expression:bronchoalveolar Lavage fluid
RGD
PMID:22215510
RGD:6483763
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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Ccr2
C-C motif chemokine receptor 2
ISO
mRNA:increased expression:trachea:
RGD
PMID:11518728
RGD:4145124
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Cd86
CD86 molecule
IMP
RGD
PMID:11266944
RGD:2307206
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Csf2
colony stimulating factor 2
IEP
associated with Respiratory Aspiration;protein:increased expression:serum
RGD
PMID:18557728
RGD:2317286
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:16709871 PMID:12097412 PMID:12097412
RGD:5135441 , RGD:5135451 , RGD:5135451
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl11
C-X-C motif chemokine ligand 11
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:12097412 PMID:12097412
RGD:5135451 , RGD:5135451
NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:16709871 PMID:12097412 PMID:12097412
RGD:5135441 , RGD:5135451 , RGD:5135451
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:16709871 PMID:12097412
RGD:5135441 , RGD:5135451
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Edn1
endothelin 1
ISO
human gene in a rat model
RGD
PMID:9595474
RGD:8662402
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Foxp3
forkhead box P3
IEP
mRNA:increased expression:lung
RGD
PMID:19840961
RGD:4889978
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Gzmb
granzyme B
ISO
RGD
PMID:19737140
RGD:5135518
NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814
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Hmox1
heme oxygenase 1
ISO
RGD
PMID:12973103
RGD:4145412
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16137903
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il13
interleukin 13
ISO
protein:increased expression:bronchoalveolar lavage fluid
RGD
PMID:17182591
RGD:4146242
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il13ra1
interleukin 13 receptor subunit alpha 1
ISO
RGD
PMID:17182591
RGD:4146242
NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681 Ensembl chr11:115,348,860...115,408,681
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Il13ra2
interleukin 13 receptor subunit alpha 2
ISO
RGD
PMID:17182591
RGD:4146242
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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Il17a
interleukin 17A
ISO
mRNA:increased expression:trachea
RGD
PMID:20393404
RGD:4143277
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:lung
RGD
PMID:11889437
RGD:4143176
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il4
interleukin 4
IEP
protein:increased expression:serum
RGD
PMID:18557728
RGD:2317286
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
ISO
RGD
PMID:20393404
RGD:4143277
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Mbl2
mannose binding lectin 2
resistance
ISO
DNA:transversion:5' utr:-290C>G rs7096206 (human)
RGD
PMID:19104434
RGD:4889456
NCBI chr 1:228,016,439...228,024,736
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression, increased activity:bronchoalveolar lavage fluid
RGD
PMID:20417130
RGD:5130759
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:16969297
RGD:5131273
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
RGD
PMID:18158963
RGD:5131450
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Nos2
nitric oxide synthase 2
ISO
associated with lung transplantation; protein:increased expression:lung
RGD
PMID:11112135
RGD:4892082
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
IEP
protein:increased expression:lung
RGD
PMID:15136885
RGD:4892068
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Scgb1a1
secretoglobin family 1A member 1
ISO
associated with lung transplantation; protein:decreased expression:serum,bronchoalveolar lavage
RGD
PMID:11981419
RGD:5147386
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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Sftpd
surfactant protein D
ISO
RGD
PMID:18347569
RGD:4143500
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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Tlr9
toll-like receptor 9
ISO
DNA:SNPs:promoter, 3' utr:g.-1485C>T (rs187084), rs352162 (human)
RGD
PMID:20227302
RGD:5130722
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Ccl11
C-C motif chemokine ligand 11
ISO
RGD
PMID:11991282
RGD:4145442
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Cftr
CF transmembrane conductance regulator
susceptibility
ISO
DNA:deletion: :F508del(human) associated with pulmonary disease chronic obstructive; DNA:missense mutation:exon:p.R75Q(human)
RGD
PMID:10767489 PMID:15463907
RGD:4140484 , RGD:4140475
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:19386687
RGD:4891509
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:15928955
RGD:4142512
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
DNA:polymorphism (human)
RGD
PMID:14593914
RGD:4889126
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Edn1
endothelin 1
ISO
Chronic Allergic Airway Inflammation; protein:increased secretion:bronchoalveolar lavage (mouse)
RGD
PMID:18631350
RGD:4145074
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Gc
GC, vitamin D binding protein
susceptibility
ISO
RGD
PMID:12096683
RGD:5129516
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Gstm1
glutathione S-transferase mu 1
severity
ISO
DNA:deletion: : DNA:deletion, haplotype: : (human)
RGD
PMID:9187680 PMID:15125256
RGD:4142513 , RGD:12798508
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:15928955
RGD:4142512
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Icam1
intercellular adhesion molecule 1
IEP
protein:increased expression:bronchial epithelium (rat)
RGD
PMID:19507274
RGD:2308951
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il10
interleukin 10
IEP
protein:decreased expression:lung
RGD
PMID:19507274
RGD:2308951
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13
interleukin 13
ISO
protein:increased expression:Respiratory Mucosa
RGD
PMID:14582911
RGD:4759835
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il15
interleukin 15
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11742275
RGD:4990461
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Mpo
myeloperoxidase
IEP
protein:increased expression:lung
RGD
PMID:11798689
RGD:5130990
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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Nos2
nitric oxide synthase 2
IDA
RGD
PMID:19938219
RGD:4891494
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Npy
neuropeptide Y
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9731035
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19263519
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
protein:increased expression:lung, macrophage (human)
RGD
PMID:21144722
RGD:5131112
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
protein:increased expression:lung, lymphocyte (human)
RGD
PMID:21144722
RGD:5131112
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:SNP:exon:p.G54D(rs1800450)(human)
RGD
PMID:15249448
RGD:8693755
NCBI chr 1:228,016,439...228,024,736
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
protein:decreased expression:bronchiole epithelium
RGD
PMID:15364771
RGD:7364741
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
DNA:insertion/deletion
RGD
PMID:15709052
RGD:7349353
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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Mucl3
mucin like 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22152429
NCBI chr20:3,100,652...3,108,569
Ensembl chr20:3,100,679...3,108,569
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Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphisms:exon:
RGD
PMID:10323341
RGD:5147847
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Adam33
ADAM metallopeptidase domain 33
susceptibility
ISO
DNA:SNP: :rs2787094 c.2891G>C (human)
RGD
PMID:19258923
RGD:4142862
NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461
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Bcl2
BCL2, apoptosis regulator
severity
ISO
protein:increased expression:natural killer cell, T cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl2l1
Bcl2-like 1
severity
ISO
protein:increased expression:natural killer cell,t cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
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C3
complement C3
resistance
ISO
RGD
PMID:19258923 PMID:12235218
RGD:4142862 , RGD:5129513
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Casp1
caspase 1
ISO
RGD
PMID:15196254
RGD:5130189
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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Cat
catalase
ISO
protein:decreased expression:nasal mucus
RGD
PMID:21471094
RGD:5130770
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccl5
C-C motif chemokine ligand 5
susceptibility
ISO
protein:increased secretion:serum (human) DNA:snp:5' utr:g.-28C>G (human)
RGD
PMID:19005677 PMID:19099677
RGD:4891884 , RGD:4891881
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Cd14
CD14 molecule
ISO
DNA:polymorphism:promoter:c.-550C>T (human)
RGD
PMID:17471431
RGD:4144210
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cd274
CD274 molecule
treatment
ISO
mRNA:increased expression:lung
RGD
PMID:22797302 PMID:22797302
RGD:40818270 , RGD:40818270
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Csf2
colony stimulating factor 2
ISO
protein:increased expression:nasal mucus
RGD
PMID:20088864
RGD:4143440
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
DNA:SNP: :p.T280M (human)
RGD
PMID:18257903 PMID:16645504
RGD:4891891 , RGD:4891905
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Cxcl10
C-X-C motif chemokine ligand 10
IEP ISO
mRNA:increased expression:lung protein:increased expression:plasma
RGD
PMID:12909590 PMID:20561238
RGD:2311388 , RGD:5135493
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:20561238
RGD:5135493
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Fas
Fas cell surface death receptor
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Flt3
Fms related receptor tyrosine kinase 3
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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Ifnl1
interferon, lambda 1
exacerbates
ISO
associated with respiratory syncytial virus infectious disease;mRNA:increased expression:mucosa of nasopharynx (human)
RGD
PMID:24389019
RGD:126848743
NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
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Il15
interleukin 15
severity
ISO
mRNA,protein:increased expression:peripheral blood mononuclear cell,serum,dendritic cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Il17a
interleukin 17A
susceptibility
ISO
DNA:SNP: :rs7747909(human)
RGD
PMID:17703412
RGD:4889847
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
DNA:SNP: :c.390T>C (rs315952) (human)
RGD
PMID:19258923
RGD:4142862
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il33
interleukin 33
ISO
protein:increased expression:nasal mucus
RGD
PMID:28471975
RGD:38596342
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Il4r
interleukin 4 receptor
susceptibility
ISO
associated with respiratory syncystial virus infection; DNA:polymorphism:cds:p. Q551R (human) DNA:SNPs: :rs1805011,rs2057768 (human)
RGD
PMID:12508140 PMID:20404812 PMID:17703412
RGD:4890022 , RGD:4889996 , RGD:4889847
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il6
interleukin 6
ISO
mRNA, protein:increased expression:respiratory system fluid/secretion
RGD
PMID:14738241
RGD:5128668
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il9
interleukin 9
ISO
RGD
PMID:15051283
RGD:5128692
NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
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Jak3
Janus kinase 3
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Klrk1
killer cell lectin like receptor K1
susceptibility
ISO
DNA:SNP,haplotypes:3'utr: (rs10772271) (human)
RGD
PMID:29967528
RGD:39128159
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Mpo
myeloperoxidase
ISO
RGD
PMID:7841728
RGD:5130995
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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Muc1
mucin 1, cell surface associated
severity
ISO
protein:increased expression:serum
RGD
PMID:19856476
RGD:5131164
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Nfkb1
nuclear factor kappa B subunit 1
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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Nfkbia
NFKB inhibitor alpha
susceptibility
ISO
associated with respiratory syncytial virus infectious disease;DNA:SNP:promoter: (rs2233406) (human)
RGD
PMID:23487427
RGD:40902982
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Nos2
nitric oxide synthase 2
susceptibility
ISO
DNA:SNP: :rs1060826(human)
RGD
PMID:17703412
RGD:4889847
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Pdcd1
programmed cell death 1
ISO
protein:increased expression:CD8 T cell
RGD
PMID:22797302
RGD:40818270
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Postn
periostin
ISO
mRNA,protein:increased expression:nasal mucus
RGD
PMID:28471975
RGD:38596342
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
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Stat5a
signal transducer and activator of transcription 5A
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
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Tlr4
toll-like receptor 4
ISO
protein:increased expression:monocyte protein:decreased expression:neutrophil
RGD
PMID:14738455 PMID:19497921
RGD:4144819 , RGD:4144183
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr5
toll-like receptor 5
susceptibility
ISO
DNA:snp:cds:p.F616L rs5744174 (human)
RGD
PMID:19258923
RGD:4142862
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP: :rs1799724(human) DNA:polymorphism:promoter: c. -308A>G (human) protein:increased expression:nasal lavage fluid
RGD
PMID:17703412 PMID:19849941 PMID:20088864
RGD:4889847 , RGD:4143441 , RGD:4143440
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf10b
TNF receptor superfamily member 10b
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
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Tslp
thymic stromal lymphopoietin
severity
ISO
mRNA, protein:increased expression:nasal mucus (human)
RGD
PMID:28471975
RGD:38596342
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNP (human) DNA:SNP: :rs10735810 (human)
RGD
PMID:18266602 PMID:17703412
RGD:4889843 , RGD:4889847
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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