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 member 1
ISO
DNA:polymorphism (human)
RGD
PMID:14593914
RGD:4889126
NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
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EGR1
early growth response 1
ISO
RGD
PMID:17384085
RGD:5132266
NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
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HDAC2
histone deacetylase 2
treatment
ISO
RGD
PMID:22708526
RGD:9590258
NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
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IFNG
interferon gamma
resistance
ISO
RGD
PMID:20953328
RGD:4145525
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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ADRB2
adrenoceptor beta 2
ISO
RGD
PMID:17687719
RGD:4145098
NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,033,579...150,040,731
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CCL11
chemokine (C-C motif) ligand 11
severity
ISO
associated with Respiratory Syncytial Virus Infections protein:increased expression:nasal mucus
RGD
PMID:15681407 PMID:17297249
RGD:4145415 RGD:4145460
NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893
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CD40
CD40 molecule
ISO
RGD
PMID:19470255
RGD:5132271
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CD86
CD86 molecule
ISO
protein:decreased expression:myeloid dendritic cell (mouse)
RGD
PMID:20046053
RGD:4892291
NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
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CRP
C-reactive protein, pentraxin-related
severity
ISO
RGD
PMID:21284715
RGD:5131282
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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CYSLTR1
cysteinyl leukotriene receptor 1
ISO
associated with Pneumovirus Infections
RGD
PMID:16337014
RGD:4843953
NCBI chr X:62,380,778...62,407,736
Ensembl chr X:62,380,780...62,456,689
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IL17A
interleukin 17A
susceptibility
ISO
DNA:SNP:promoter:rs2275913 (human)
RGD
PMID:20437253
RGD:4889139
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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IL1RN
interleukin 1 receptor antagonist
ISO
protein:increased expression:lung
RGD
PMID:8608647
RGD:4143192
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LOC110258578
interleukin-1 beta-like
ISO
protein:increased expression:lung
RGD
PMID:8608647
RGD:4143192
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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 2:807,685...842,096
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ACE
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
ISO
RGD
PMID:17097496
RGD:4140933
NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
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ADORA2A
adenosine A2a receptor
ISO
RGD
PMID:19766783
RGD:4890362
NCBI chr14:49,467,186...49,485,845
Ensembl chr14:49,468,877...49,485,850
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CCL17
C-C motif chemokine ligand 17
ISO
RGD
PMID:18785972
RGD:4145604
NCBI chr 6:19,345,929...19,372,972
Ensembl chr 6:19,345,941...19,348,926
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CCL2
chemokine (C-C motif) ligand 2
ISO
RGD
PMID:14611812
RGD:2307195
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CCL22
C-C motif chemokine ligand 22
ISO
RGD
PMID:20628341
RGD:4891471
NCBI chr 6:19,296,726...19,301,506
Ensembl chr 6:19,296,637...19,302,737
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CCL5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:lung (rat)
RGD
PMID:14611812 PMID:19840961
RGD:2307195 RGD:4889978
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
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CCR2
C-C motif chemokine receptor 2
ISO
mRNA:increased expression:trachea:
RGD
PMID:11518728
RGD:4145124
NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
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CD86
CD86 molecule
ISO
RGD
PMID:11266944
RGD:2307206
NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
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CSF2
colony stimulating factor 2
ISO
associated with Respiratory Aspiration;protein:increased expression:serum
RGD
PMID:18557728
RGD:2317286
NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155
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CXCL10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:12097412 PMID:16709871
RGD:5135441 RGD:5135451
NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
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CXCL11
C-X-C motif chemokine ligand 11
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:12097412
RGD:5135451
NCBI chr 8:71,713,790...71,725,669
Ensembl chr 8:71,713,803...71,725,674
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CXCL9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:12097412 PMID:16709871
RGD:5135441 RGD:5135451
NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271
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CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:12097412 PMID:16709871
RGD:5135441 RGD:5135451
NCBI chr X:57,592,032...57,595,706
Ensembl chr X:57,592,038...57,595,692
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EDN1
endothelin 1
ISO
human gene in a rat model
RGD
PMID:9595474
RGD:8662402
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
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FOXP3
forkhead box P3
ISO
mRNA:increased expression:lung
RGD
PMID:19840961
RGD:4889978
NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
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GZMB
granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
ISO
RGD
PMID:19737140
RGD:5135518
NCBI chr 7:74,705,499...74,708,781
Ensembl chr 7:74,705,409...74,708,790
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HMOX1
heme oxygenase 1
ISO
RGD
PMID:12973103
RGD:4145412
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IFNG
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16137903
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IL13
interleukin 13
ISO
protein:increased expression:bronchoalveolar lavage fluid
RGD
PMID:17182591
RGD:4146242
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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IL13RA1
interleukin 13 receptor subunit alpha 1
ISO
RGD
PMID:17182591
RGD:4146242
NCBI chr X:97,300,960...97,353,754
Ensembl chr X:97,300,466...97,356,133
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IL13RA2
interleukin 13 receptor subunit alpha 2
ISO
RGD
PMID:17182591
RGD:4146242
NCBI chr X:94,402,665...94,455,609
Ensembl chr X:94,402,676...94,439,060
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IL17A
interleukin 17A
ISO
mRNA:increased expression:trachea
RGD
PMID:20393404
RGD:4143277
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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IL1RN
interleukin 1 receptor antagonist
ISO
protein:increased expression:lung
RGD
PMID:11889437
RGD:4143176
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IL4
interleukin 4
ISO
protein:increased expression:serum
RGD
PMID:18557728
RGD:2317286
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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IL6
interleukin 6
ISO
RGD
PMID:20393404
RGD:4143277
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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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 chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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MMP9
matrix metallopeptidase 9
ISO
protein:increased expression, increased activity:bronchoalveolar lavage fluid
RGD
PMID:20417130
RGD:5130759
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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MUC1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:16969297
RGD:5131273
NCBI chr 4:94,626,317...94,631,194
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NOD2
nucleotide binding oligomerization domain containing 2
ISO
RGD
PMID:18158963
RGD:5131450
NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
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NOS2
nitric oxide synthase 2
ISO
associated with lung transplantation; protein:increased expression:lung
RGD
PMID:11112135
RGD:4892082
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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NOS3
nitric oxide synthase 3
ISO
protein:increased expression:lung
RGD
PMID:15136885
RGD:4892068
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
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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 2:9,297,282...9,302,204
Ensembl chr 2:9,297,283...9,302,165
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SFTPD
surfactant protein D
ISO
RGD
PMID:18347569
RGD:4143500
NCBI chr14:82,051,400...82,069,258
Ensembl chr14:82,051,451...82,067,976
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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 chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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CCL11
chemokine (C-C motif) ligand 11
ISO
RGD
PMID:11991282
RGD:4145442
NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893
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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:4140475 RGD:4140484
NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:19386687
RGD:4891509
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:15928955
RGD:4142512
NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
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CYP2E1
cytochrome P450 family 2 subfamily E member 1
ISO
DNA:polymorphism (human)
RGD
PMID:14593914
RGD:4889126
NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817
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EDN1
endothelin 1
ISO
Chronic Allergic Airway Inflammation; protein:increased secretion:bronchoalveolar lavage (mouse)
RGD
PMID:18631350
RGD:4145074
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
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GC
GC vitamin D binding protein
susceptibility
ISO
RGD
PMID:12096683
RGD:5129516
NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262
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ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:bronchial epithelium (rat)
RGD
PMID:19507274
RGD:2308951
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IL10
interleukin 10
ISO
protein:decreased expression:lung
RGD
PMID:19507274
RGD:2308951
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL13
interleukin 13
ISO
protein:increased expression:Respiratory Mucosa
RGD
PMID:14582911
RGD:4759835
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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IL15
interleukin 15
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11742275
RGD:4990461
NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
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MPO
myeloperoxidase
ISO
protein:increased expression:lung
RGD
PMID:11798689
RGD:5130990
NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
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NOS2
nitric oxide synthase 2
ISO
RGD
PMID:19938219
RGD:4891494
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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NPY
neuropeptide Y
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9731035
NCBI chr18:47,985,796...47,993,726
Ensembl chr18:47,985,725...47,992,667
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VEGFA
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19263519
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
protein:increased expression:lung, macrophage (human)
RGD
PMID:21144722
RGD:5131112
NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
protein:increased expression:lung, lymphocyte (human)
RGD
PMID:21144722
RGD:5131112
NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
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MBL2
mannose binding lectin 2
susceptibility
ISO
DNA:SNP:exon:p.G54D(rs1800450)(human)
RGD
PMID:15249448
RGD:8693755
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
ISO
protein:decreased expression:bronchiole epithelium
RGD
PMID:15364771
RGD:7364741
NCBI chr 2:757,897...790,321
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MUC5B
mucin 5B, oligomeric mucus/gel-forming
ISO
DNA:insertion/deletion
RGD
PMID:15709052
RGD:7349353
NCBI chr 2:807,685...842,096
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MUCL3
mucin like 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22152429
NCBI chr 7:23,429,415...23,440,523
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TAP2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphisms:exon:
RGD
PMID:10323341
RGD:5147847
NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,045,685...25,056,300
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ADAM33
ADAM metallopeptidase domain 33
susceptibility
ISO
DNA:SNP: :rs2787094 c.2891G>C (human)
RGD
PMID:19258923
RGD:4142862
NCBI chr17:32,023,102...32,038,464
Ensembl chr17:32,023,091...32,037,880
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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 chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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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 chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694
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C3
complement C3
resistance
ISO
RGD
PMID:12235218 PMID:19258923
RGD:4142862 RGD:5129513
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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CASP1
caspase 1, apoptosis-related cysteine peptidase
ISO
RGD
PMID:15196254
RGD:5130189
NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328
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CAT
catalase
ISO
protein:decreased expression:nasal mucus protein:decreased expression:lung
RGD
PMID:21471094
RGD:5130770
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
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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:4891881 RGD:4891884
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
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CD14
CD14 molecule
ISO
DNA:polymorphism:promoter:c.-550C>T (human)
RGD
PMID:17471431
RGD:4144210
NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581
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CD274
CD274 molecule
treatment
ISO
mRNA:increased expression:lung
RGD
PMID:22797302
RGD:40818270
NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
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CSF2
colony stimulating factor 2
ISO
protein:increased expression:nasal mucus
RGD
PMID:20088864
RGD:4143440
NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155
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CX3CR1
C-X3-C motif chemokine receptor 1
ISO
DNA:SNP: :p.T280M (human)
RGD
PMID:16645504 PMID:18257903
RGD:4891891 RGD:4891905
NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486
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CXCL10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:plasma mRNA:increased expression:lung
RGD
PMID:12909590 PMID:20561238
RGD:2311388 RGD:5135493
NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
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CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:20561238
RGD:5135493
NCBI chr X:57,592,032...57,595,706
Ensembl chr X:57,592,038...57,595,692
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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 chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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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 chr11:5,370,475...5,455,439
Ensembl chr11:5,370,496...5,455,358
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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 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991
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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 chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
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IL17A
interleukin 17A
susceptibility
ISO
DNA:SNP: :rs7747909(human)
RGD
PMID:17703412
RGD:4889847
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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IL1RN
interleukin 1 receptor antagonist
susceptibility
ISO
DNA:SNP: :c.390T>C (rs315952) (human)
RGD
PMID:19258923
RGD:4142862
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IL29
interleukin 29 (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 chr17:51,484,658...51,485,233
Ensembl chr17:51,484,658...51,485,233
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IL33
interleukin 33
ISO
protein:increased expression:nasal mucus
RGD
PMID:28471975
RGD:38596342
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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IL4R
interleukin 4 receptor
susceptibility
ISO
DNA:SNPs: :rs1805011,rs2057768 (human) associated with respiratory syncystial virus infection; DNA:polymorphism:cds:p. Q551R (human)
RGD
PMID:12508140 PMID:17703412 PMID:20404812
RGD:4889847 RGD:4889996 RGD:4890022
NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
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IL6
interleukin 6
ISO
mRNA, protein:increased expression:respiratory system fluid/secretion
RGD
PMID:14738241
RGD:5128668
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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IL9
interleukin 9
ISO
RGD
PMID:15051283
RGD:5128692
NCBI chr 2:138,048,943...138,052,588
Ensembl chr 2:138,048,943...138,052,588
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JAK3
Janus kinase 3
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495
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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 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192
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LOC100737977
tumor necrosis factor receptor superfamily member 10B-like
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr14:7,344,788...7,371,086
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MPO
myeloperoxidase
ISO
RGD
PMID:7841728
RGD:5130995
NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
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MUC1
mucin 1, cell surface associated
severity
ISO
protein:increased expression:serum
RGD
PMID:19856476
RGD:5131164
NCBI chr 4:94,626,317...94,631,194
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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 8:118,391,010...118,478,927
Ensembl chr 8:118,390,638...118,506,691
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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 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
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NOS2
nitric oxide synthase 2
susceptibility
ISO
DNA:SNP: :rs1060826(human)
RGD
PMID:17703412
RGD:4889847
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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PDCD1
programmed cell death 1
ISO
protein:increased expression:CD8 T cell
RGD
PMID:22797302
RGD:40818270
NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
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POSTN
periostin
ISO
mRNA,protein:increased expression:nasal mucus
RGD
PMID:28471975
RGD:38596342
NCBI chr11:13,225,183...13,258,973
Ensembl chr11:13,224,959...13,258,978
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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 chr12:20,474,221...20,498,785
Ensembl chr12:20,474,227...20,499,138
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TLR4
toll like receptor 4
ISO
protein:increased expression:monocyte protein:decreased expression:neutrophil
RGD
PMID:14738455 PMID:19497921
RGD:4144183 RGD:4144819
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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TLR5
toll like receptor 5
susceptibility
ISO
DNA:snp:cds:p.F616L rs5744174 (human)
RGD
PMID:19258923
RGD:4142862
NCBI chr10:19,387,666...19,410,024
Ensembl chr10:19,387,666...19,410,024
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TNF
tumor necrosis factor
susceptibility
ISO
DNA:polymorphism:promoter: c. -308A>G (human) DNA:SNP: :rs1799724(human) protein:increased expression:nasal lavage fluid
RGD
PMID:17703412 PMID:19849941 PMID:20088864
RGD:4143440 RGD:4143441 RGD:4889847
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TSLP
thymic stromal lymphopoietin
severity
ISO
mRNA, protein:increased expression:nasal mucus (human)
RGD
PMID:28471975
RGD:38596342
NCBI chr 2:115,832,152...115,837,572
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VDR
vitamin D receptor
susceptibility
ISO
DNA:SNP: :rs10735810 (human) DNA:SNP (human)
RGD
PMID:17703412 PMID:18266602
RGD:4889843 RGD:4889847
NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
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