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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ABCC1
ATP binding cassette subfamily C member 1 (ABCC1 blood group)
ISO
RGD
PMID:11238654
RGD:5128828
NCBI chr16:15,949,143...16,143,053
Ensembl chr16:15,949,138...16,143,257
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ACE2
angiotensin converting enzyme 2
ISO
associated with Pseudomonas Infections;mRNA, protein:altered expression, altered activity:lung (mouse)
RGD
PMID:31645418
RGD:40818279
NCBI chr X:15,518,197...15,607,211
Ensembl chr X:15,494,566...15,607,236
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AGER
advanced glycosylation end-product specific receptor
severity
ISO
RGD
PMID:21629785
RGD:6767559
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
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C3
complement C3
ISO
RGD
PMID:16014897
RGD:5129508
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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C3AR1
complement C3a receptor 1
ISO
RGD
PMID:16461429
RGD:5129690
NCBI chr12:8,056,844...8,066,359
Ensembl chr12:8,056,844...8,066,359
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C5
complement C5
ISO
RGD
PMID:17975174
RGD:5129707
NCBI chr 9:120,952,335...121,074,865
Ensembl chr 9:120,932,987...121,075,195
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CAT
catalase
ISO
RGD
PMID:19842849
RGD:5130748
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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CCL19
C-C motif chemokine ligand 19
ISO
mRNA, protein:increased expression:lung
RGD
PMID:20176793
RGD:5130918
NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276
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CCL2
C-C motif chemokine ligand 2
ISO
RGD
PMID:20042590
RGD:4891443
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCL4
C-C motif chemokine ligand 4
ISO
RGD
PMID:20483921
RGD:5130905
NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
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CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:20042590
RGD:4891443
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
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CCR7
C-C motif chemokine receptor 7
ISO
RGD
PMID:20176793
RGD:5130918
NCBI chr17:40,553,769...40,565,472
Ensembl chr17:40,553,769...40,565,472
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CD14
CD14 molecule
ISO
RGD
PMID:16210672
RGD:4144197
NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
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CD40
CD40 molecule
ISO
RGD
PMID:20102413
RGD:5132268
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CD80
CD80 molecule
ISO
RGD
PMID:20949109
RGD:4892562
NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614
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CHUK
component of inhibitor of nuclear factor kappa B kinase complex
ISO
RGD
PMID:18643924
RGD:5133701
NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596
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CSF3
colony stimulating factor 3
disease_progression treatment
IEP IDA
associated with Peritonitis;
RGD
PMID:21373266 PMID:12352049
RGD:5133733 , RGD:11039437
NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
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CSF3R
colony stimulating factor 3 receptor
disease_progression
ISO
RGD
PMID:17185469
RGD:5133739
NCBI chr 1:36,466,043...36,483,314
Ensembl chr 1:36,466,043...36,483,278
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CXCL1
C-X-C motif chemokine ligand 1
ISO
RGD
PMID:21723409 PMID:11052817
RGD:5135062 , RGD:5135234
NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
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CXCL10
C-X-C motif chemokine ligand 10
severity
ISO
RGD
PMID:16299319 PMID:15618188
RGD:5135458 , RGD:5135459
NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
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CXCL11
C-X-C motif chemokine ligand 11
ISO
RGD
PMID:15618188
RGD:5135459
NCBI chr 4:76,033,682...76,036,070
Ensembl chr 4:76,033,682...76,041,415
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CXCL2
C-X-C motif chemokine ligand 2
severity
ISO
RGD
PMID:19239431 PMID:11052817 PMID:21723409
RGD:5135065 , RGD:5135234 , RGD:5135062
NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
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CXCL3
C-X-C motif chemokine ligand 3
ISO
RGD
PMID:11052817
RGD:5135234
NCBI chr 4:74,036,589...74,038,689
Ensembl chr 4:74,036,589...74,038,807
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CXCL5
C-X-C motif chemokine ligand 5
ISO
RGD
PMID:19846873
RGD:4145490
NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677
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CXCL6
C-X-C motif chemokine ligand 6
ISO
RGD
PMID:19846873
RGD:4145490
NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064
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CXCL9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:15618188
RGD:5135459
NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
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CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:15618188
RGD:5135459
NCBI chr X:71,615,919...71,618,511
Ensembl chr X:71,615,916...71,618,511
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CYP2J2
cytochrome P450 family 2 subfamily J member 2
ISO
protein:decreased expression:lung
RGD
PMID:14766666
RGD:1625385
NCBI chr 1:59,893,308...59,969,212
Ensembl chr 1:59,893,308...59,926,773
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DEFB4A
defensin beta 4A
IEP
protein:increased expression:plasma
RGD
PMID:10213993
RGD:4892266
NCBI chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716 Ensembl chr 8:7,894,677...7,896,716
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F2
coagulation factor II, thrombin
ISO
RGD
PMID:21897338
RGD:6893486
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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FCGR2A
Fc gamma receptor IIa
ISO
RGD
PMID:17975174
RGD:5129707
NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
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FOXP3
forkhead box P3
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
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GP1BA
glycoprotein Ib platelet subunit alpha
exacerbates
ISO
associated with Escherichia Coli Infections
RGD
PMID:27845343
RGD:42722624
NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
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GRK2
G protein-coupled receptor kinase 2
IEP
mRNA:decreased expression:polymorphonuclear leukocyte
RGD
PMID:24465168
RGD:126848796
NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556
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ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:lung (mouse)
RGD
PMID:19846873
RGD:4145490
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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IFNAR1
interferon alpha and beta receptor subunit 1
severity
ISO
RGD
PMID:19487810 PMID:19487810
RGD:5490274 , RGD:5490274
NCBI chr21:33,324,395...33,359,864
Ensembl chr21:33,324,387...33,359,864
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IFNG
interferon gamma
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IL10
interleukin 10
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL15
interleukin 15
ISO
RGD
PMID:17911627
RGD:5000754
NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
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IL17A
interleukin 17A
severity
ISO
RGD
PMID:18802100 PMID:25398094
RGD:4889153 , RGD:38501102
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL18
interleukin 18
ISO
RGD
PMID:17664259
RGD:4889913
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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IL1B
interleukin 1 beta
severity treatment
ISO IDA
associated with Agranulocytosis
RGD
PMID:18596024 PMID:25398094 PMID:7546648
RGD:4143205 , RGD:38501102 , RGD:10755357
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL1RL1
interleukin 1 receptor like 1
treatment
ISO
associated with Sepsis associated with Acinetobacter infectious disease
RGD
PMID:20959556 PMID:29508184
RGD:5144223 , RGD:40818077
NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037
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IL1RN
interleukin 1 receptor antagonist
ISO
RGD
PMID:18322242 PMID:18596024
RGD:4143206 , RGD:4143205
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL22
interleukin 22
ISO
RGD
PMID:21178015
RGD:5147404
NCBI chr12:68,248,242...68,253,604
Ensembl chr12:68,248,242...68,253,604
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IL6
interleukin 6
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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IRAK3
interleukin 1 receptor associated kinase 3
ISO
RGD
PMID:28120642 PMID:20439918
RGD:34888234 , RGD:36049799
NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
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IRF1
interferon regulatory factor 1
ISO
RGD
PMID:11854220
RGD:5128725
NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719
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IRF3
interferon regulatory factor 3
ISO
RGD
PMID:20720199
RGD:4891951
NCBI chr19:49,659,572...49,665,857
Ensembl chr19:49,659,569...49,665,875
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ITGB3
integrin subunit beta 3
ISO
protein:increased expression:lung, neutrophil
RGD
PMID:15114484
RGD:4993468
NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
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LEP
leptin
ISO
RGD
PMID:11937559
RGD:5128871
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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MAPK8
mitogen-activated protein kinase 8
severity
ISO
associated with Escherichia Coli Infections
RGD
PMID:22514650
RGD:150340681
NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
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MBL2
mannose binding lectin 2
IAGP
Legionella Pneumonia; DNA:mutations:5' utr, exon:multiple (human)
RGD
PMID:18641104
RGD:4889477
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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MC1R
melanocortin 1 receptor
ISO
RGD
PMID:18304533
RGD:5687324
NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
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MMP9
matrix metallopeptidase 9
ISO IEP
protein:increased expression:bronchoalveolar lavage fluid
RGD
PMID:17202364 PMID:19535150
RGD:5130727 , RGD:5129533
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MPO
myeloperoxidase
IEP
protein:increased activity:bronchoalveolar lavage Fluid:
RGD
PMID:11269653
RGD:5130992
NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
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NOD1
nucleotide binding oligomerization domain containing 1
ISO
RGD
PMID:19360122
RGD:5131449
NCBI chr 7:30,424,527...30,478,784
Ensembl chr 7:30,424,527...30,478,784
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NOD2
nucleotide binding oligomerization domain containing 2
ISO
RGD
PMID:19360122
RGD:5131449
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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PDPN
podoplanin
ISO
protein:increased expression:lung
RGD
PMID:7864138
RGD:2292375
NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
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PECAM1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:lung
RGD
PMID:12524254
RGD:724645
NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
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PGF
placental growth factor
ISO
protein:increased expression:plasma
RGD
PMID:16702604
RGD:6483601
NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
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PTEN
phosphatase and tensin homolog
ameliorates
ISO
myeloid knockout
RGD
PMID:21527775
RGD:127285594
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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RIPK3
receptor interacting serine/threonine kinase 3
ameliorates
ISO
RGD
PMID:28387756
RGD:127229944
NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
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RORC
RAR related orphan receptor C
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr 1:151,806,071...151,831,802
Ensembl chr 1:151,806,071...151,831,845
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SERPINE1
serpin family E member 1
severity
ISO
RGD
PMID:17032919
RGD:4144840
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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SFTPA1
surfactant protein A1
ISO
protein:increased expression:lung
RGD
PMID:12169586
RGD:4143464
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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SFTPB
surfactant protein B
IEP ISO
associated with Cystic Fibrosis;protein:increased expression:lung
RGD
PMID:15271694 PMID:12169586
RGD:4143403 , RGD:4143464
NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
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SFTPC
surfactant protein C
ISO
RGD
PMID:18566429 PMID:12169586
RGD:4144114 , RGD:4143464
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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SFTPD
surfactant protein D
ISO IEP
protein:increased expression:lung associated with Cystic Fibrosis;protein:decreased expression:lung
RGD
PMID:12169586 PMID:15271694
RGD:4143464 , RGD:4143403
NCBI chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614
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STAT3
signal transducer and activator of transcription 3
ISO
RGD
PMID:18192501
RGD:6892945
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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TGFB1
transforming growth factor beta 1
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TLR2
toll like receptor 2
ISO
RGD
PMID:18768871 PMID:19844782
RGD:4145337 , RGD:4889533
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TLR4
toll like receptor 4
ISO
RGD
PMID:20650991 PMID:16210672
RGD:4144172 , RGD:4144197
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TLR5
toll like receptor 5
ISO
RGD
PMID:19801452
RGD:5129503
NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
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TLR6
toll like receptor 6
ISO
RGD
PMID:19844782
RGD:4889533
NCBI chr 4:38,822,897...38,868,390
Ensembl chr 4:38,822,897...38,856,817
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TLR9
toll like receptor 9
ISO
RGD
PMID:20360853
RGD:5130719
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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TNF
tumor necrosis factor
disease_progression treatment severity
IEP IDA ISO
associated with Agranulocytosis
RGD
PMID:10650487 PMID:7546648 PMID:9310939 PMID:12958055
RGD:4143476 , RGD:10755357 , RGD:10450564 , RGD:10449451
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
protein:increased expression:serum (mouse)
RGD
PMID:19842848
RGD:5131429
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
protein:increased expression:serum (mouse)
RGD
PMID:19842848
RGD:5131429
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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TREM1
triggering receptor expressed on myeloid cells 1
severity ameliorates
IEP ISO
RGD
PMID:24465168 PMID:16960786 PMID:22996209
RGD:126848796 , RGD:127229902 , RGD:126925987
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
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ZC3H12A
zinc finger CCCH-type containing 12A
ISO
associated with Pseudomonas Infections
RGD
PMID:29695841
RGD:39938967
NCBI chr 1:37,474,580...37,484,377
Ensembl chr 1:37,474,580...37,484,377
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ACE
angiotensin I converting enzyme
IMP
associated with Cerebrovascular Accident
RGD
PMID:14990394
RGD:4140926
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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CXCL1
C-X-C motif chemokine ligand 1
ISO
RGD
PMID:19515386
RGD:4891456
NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
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CXCL2
C-X-C motif chemokine ligand 2
ISO
RGD
PMID:19515386
RGD:4891456
NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
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EDN1
endothelin 1
ISO
protein:increased secretion:plasma (rat)
RGD
PMID:19262391
RGD:4145069
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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IL1A
interleukin 1 alpha
ISO
protein:increased expression:Bronchoalveolar Lavage Fluid
RGD
PMID:18042282
RGD:4142854
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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NOS2
nitric oxide synthase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15607125
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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TNF
tumor necrosis factor
ISO
protein:increased expression:Bronchoalveolar Lavage Fluid
RGD
PMID:18042282
RGD:4142854
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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CD274
CD274 molecule
ISO
mRNA:increased expression:lung
RGD
PMID:26378990
RGD:41412180
NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
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PDCD1
programmed cell death 1
ISO
mRNA:increased expression:lung
RGD
PMID:26378990
RGD:41412180
NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
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PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
severity
ISO
RGD
PMID:29893841
RGD:40890270
NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
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CXCL8
C-X-C motif chemokine ligand 8
ISO
RGD
PMID:11207292
RGD:38549344
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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IL23A
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:16157683
RGD:39457940
NCBI chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410
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IRAK3
interleukin 1 receptor associated kinase 3
severity
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:22729155 PMID:20864681
RGD:35316077 , RGD:36049798
NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
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LCN2
lipocalin 2
exacerbates ameliorates
ISO
protein:increased expression:lung protein:increased expression:serum
RGD
PMID:29633303 PMID:19342674 PMID:19342674 PMID:19342674 PMID:25234944 PMID:25234944 More...
RGD:126725082 , RGD:126725085 , RGD:126725085 , RGD:126725085 , RGD:126725084 , RGD:126725084
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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PLAC8
placenta associated 8
severity
ISO
RGD
PMID:17404296
RGD:40924563
NCBI chr 4:83,090,048...83,114,729
Ensembl chr 4:83,090,048...83,137,075
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TREM1
triggering receptor expressed on myeloid cells 1
disease_progression
ISO
RGD
PMID:24396044
RGD:126925976
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
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ADA
adenosine deaminase
IEP
protein:increased expression:serum
RGD
PMID:9255891
RGD:5128857
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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CX3CL1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:16113250
RGD:4891897
NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
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CXCL1
C-X-C motif chemokine ligand 1
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
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CXCL2
C-X-C motif chemokine ligand 2
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
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CXCL5
C-X-C motif chemokine ligand 5
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677
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CXCL6
C-X-C motif chemokine ligand 6
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064
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CXCR2
C-X-C motif chemokine receptor 2
ISO
RGD
PMID:11254553
RGD:5135252
NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
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IFNG
interferon gamma
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:11349020
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IL18
interleukin 18
ISO
RGD
PMID:11083766
RGD:4889865
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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MBL2
mannose binding lectin 2
susceptibility
IEP
RGD
PMID:19073229
RGD:12910934
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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NOD1
nucleotide binding oligomerization domain containing 1
ISO
RGD
PMID:20685341
RGD:5131443
NCBI chr 7:30,424,527...30,478,784
Ensembl chr 7:30,424,527...30,478,784
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NOD2
nucleotide binding oligomerization domain containing 2
ISO
RGD
PMID:20685341
RGD:5131443
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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TLR5
toll like receptor 5
susceptibility
IAGP EXP ISO
DNA:nonsense mutation:cds:p.R392X (human) ClinVar Annotator: match by term: Legionnaire disease, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:14623910 PMID:16027372 PMID:23447684 PMID:25741868 PMID:14623910 PMID:17982089 More...
RGD:5129477 , RGD:5129510
NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
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TLR9
toll like receptor 9
ISO
RGD
PMID:18426877
RGD:5130707
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
RGD
PMID:18838275
RGD:5131445
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
RGD
PMID:18838275
RGD:5131445
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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ADA
adenosine deaminase
IEP
protein:increased expression:serum
RGD
PMID:9255891
RGD:5128857
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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ATP1B2
ATPase Na+/K+ transporting subunit beta 2
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr17:7,646,627...7,657,770
Ensembl chr17:7,646,627...7,657,770
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CCL4
C-C motif chemokine ligand 4
ISO
RGD
PMID:16988274
RGD:4892091
NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
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CCL5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:lung, secretion (mouse)
RGD
PMID:18717637
RGD:4891914
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CCL8
C-C motif chemokine ligand 8
ISO
RGD
PMID:16988274
RGD:4892091
NCBI chr17:34,319,435...34,321,402
Ensembl chr17:34,319,435...34,321,402
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CCR5
C-C motif chemokine receptor 5
ISO
protein:increased expression:lung, T-helper cell (mouse)
RGD
PMID:16988274
RGD:4892091
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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CLEC5A
C-type lectin domain containing 5A
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr 7:141,927,357...141,946,974
Ensembl chr 7:141,927,357...141,947,007
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COL3A1
collagen type III alpha 1 chain
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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COL6A1
collagen type VI alpha 1 chain
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
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COL6A2
collagen type VI alpha 2 chain
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
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CRP
C-reactive protein
IEP
RGD
PMID:21426633
RGD:5131292
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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DNASE1L3
deoxyribonuclease 1L3
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697
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FCER2
Fc epsilon receptor II
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr19:7,688,776...7,702,131
Ensembl chr19:7,688,758...7,702,146
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FLT1
fms related receptor tyrosine kinase 1
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
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GALC
galactosylceramidase
IEP ISO
associated with Guillain-Barre syndrome; protein:increased expression:serum (human) associated with Guillain-Barre syndrome; protein:increased expression:Cerebrospinal fluid, serum (human) protein:increased expression:serum (mouse)
RGD
PMID:27490360 PMID:29301655 PMID:30396892 PMID:30396892 PMID:12225900
RGD:38599168 , RGD:38599172 , RGD:38599171 , RGD:38599171 , RGD:38599169
NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665
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HDC
histidine decarboxylase
ISO
RGD
PMID:17158962
RGD:5143920
NCBI chr15:50,241,947...50,265,726
Ensembl chr15:50,241,947...50,265,965
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HTRA3
HtrA serine peptidase 3
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr 4:8,269,754...8,307,098
Ensembl chr 4:8,269,754...8,307,098
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IFNG
interferon gamma
ISO
mRNA:increased expression:lung:
RGD
PMID:7935058
RGD:10755754
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IL13
interleukin 13
IEP
protein:increased expression:serum
RGD
PMID:20416219
RGD:4145765
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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IL22RA2
interleukin 22 receptor subunit alpha 2
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr 6:137,143,820...137,173,644
Ensembl chr 6:137,143,820...137,173,648
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INHBA
inhibin subunit beta A
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr 7:41,685,114...41,705,406
Ensembl chr 7:41,667,168...41,705,834
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KLRF1
killer cell lectin like receptor F1
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr12:9,800,052...9,845,005
Ensembl chr12:9,827,481...9,845,007
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MS4A1
membrane spanning 4-domains A1
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
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PLD4
phospholipase D family member 4
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr14:104,924,879...104,937,785
Ensembl chr14:104,924,713...104,937,761
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SPIB
Spi-B transcription factor
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr19:50,418,938...50,431,314
Ensembl chr19:50,418,938...50,431,314
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TCF7
transcription factor 7
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr 5:134,108,218...134,148,210
Ensembl chr 5:134,114,681...134,151,865
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TCL1A
TCL1 family AKT coactivator A
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr14:95,709,947...95,714,125
Ensembl chr14:95,709,947...95,714,196
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TNF
tumor necrosis factor
IEP
protein:increased expression:serum
RGD
PMID:20416219
RGD:4145765
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF13C
TNF receptor superfamily member 13C
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
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AICDA
activation induced cytidine deaminase
ISO
RGD
PMID:26456931
RGD:11098923
NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242
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ALOX5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:20231413
RGD:4890435
NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
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BTK
Bruton tyrosine kinase
ameliorates
ISO
RGD
PMID:30646846
RGD:124715470
NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796
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C3
complement C3
disease_progression
ISO IEP
associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion protein:decreased expression:serum
RGD
PMID:17956621 PMID:20405 PMID:15972516
RGD:5129523 , RGD:5130163 , RGD:5129509
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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C5
complement C5
severity
ISO
RGD
PMID:7814608
RGD:5130159
NCBI chr 9:120,952,335...121,074,865
Ensembl chr 9:120,932,987...121,075,195
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CCL5
C-C motif chemokine ligand 5
susceptibility
ISO
RGD
PMID:16455992
RGD:4892130
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CD14
CD14 molecule
ISO
RGD
PMID:17185649
RGD:4144788
NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
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CHI3L1
chitinase 3 like 1
IEP
protein:increased secretion:serum (human)
RGD
PMID:10515841
RGD:4892626
NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
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CRHR1
corticotropin releasing hormone receptor 1
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chr17:45,784,320...45,835,828
Ensembl chr17:45,784,277...45,835,828
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CRHR2
corticotropin releasing hormone receptor 2
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chr 7:30,651,942...30,700,103
Ensembl chr 7:30,651,942...30,700,129
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CRP
C-reactive protein
disease_progression
IEP
RGD
PMID:21281676
RGD:5131293
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CXCL1
C-X-C motif chemokine ligand 1
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20958976
RGD:5134957
NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
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CXCL8
C-X-C motif chemokine ligand 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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CXCL9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:lung
RGD
PMID:20381636
RGD:5135285
NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
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DEFB4A
defensin beta 4A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716 Ensembl chr 8:7,894,677...7,896,716
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HMOX1
heme oxygenase 1
ISO
associated with influenza;protein:increased expression:lung
RGD
PMID:17348295
RGD:4145366
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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HP
haptoglobin
IEP
RGD
PMID:19396720
RGD:5147385
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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IL15
interleukin 15
ISO
protein:increased expression:alveolar macrophage, bronchial epithelial cell
RGD
PMID:17611121
RGD:5000755
NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
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IL15RA
interleukin 15 receptor subunit alpha
ISO
RGD
PMID:17611121
RGD:5000755
NCBI chr10:5,948,900...5,978,741
Ensembl chr10:5,943,639...5,978,187
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IL17A
interleukin 17A
ISO
RGD
PMID:19995896
RGD:4888531
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL18
interleukin 18
ISO
RGD
PMID:15770015
RGD:4889960
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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IL6
interleukin 6
ISO
RGD
PMID:20643849
RGD:4143255
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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LEP
leptin
ISO
RGD
PMID:17822444
RGD:5128869
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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LEPR
leptin receptor
ISO
RGD
PMID:21148797
RGD:5128846
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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MAPK1
mitogen-activated protein kinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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MAPK3
mitogen-activated protein kinase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
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MASP2
MBL associated serine protease 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12904520
NCBI chr 1:11,026,523...11,047,239
Ensembl chr 1:11,022,009...11,047,239
G
MBL2
mannose binding lectin 2
no_association
IAGP
DNA:polymorphisms:5' utr, exon:multiple (human) DNA:mutations:5' utr, exon:multiple (human)
RGD
PMID:12047967 PMID:18641104
RGD:4889478 , RGD:4889477
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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NOS2
nitric oxide synthase 2
ISO
RGD
PMID:17056580
RGD:4891950
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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PTEN
phosphatase and tensin homolog
ameliorates
ISO
myeloid knockout
RGD
PMID:20505137
RGD:127285597
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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SFTPD
surfactant protein D
severity
ISO
RGD
PMID:16255775
RGD:4143519
NCBI chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614
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SIRT1
sirtuin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
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STING1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29263110
RGD:39128230
NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
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TLR2
toll like receptor 2
ISO
RGD
PMID:19956717
RGD:4145321
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TNF
tumor necrosis factor
ISO
associated with influenza;protein:increased expression:lung
RGD
PMID:9032201 PMID:17348295
RGD:4143479 , RGD:4145366
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TREM1
triggering receptor expressed on myeloid cells 1
ameliorates
ISO
RGD
PMID:24752755 PMID:19596984
RGD:126928121 , RGD:127229903
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
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AKT1
AKT serine/threonine kinase 1
treatment
ISO
RGD
PMID:23613163
RGD:38676477
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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CD86
CD86 molecule
ISO
protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse)
RGD
PMID:20949109
RGD:4892562
NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
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CFTR
CF transmembrane conductance regulator
ISO
RGD
PMID:28289144
RGD:36049750
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
G
CSF3
colony stimulating factor 3
treatment
IDA
RGD
PMID:10228098
RGD:11039478
NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
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FN1
fibronectin 1
ISO
RGD
PMID:12065530
RGD:7205474
NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
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IFNAR1
interferon alpha and beta receptor subunit 1
susceptibility
ISO
RGD
PMID:19603548 PMID:19603548
RGD:5490273 , RGD:5490273
NCBI chr21:33,324,395...33,359,864
Ensembl chr21:33,324,387...33,359,864
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IL10
interleukin 10
ISO
mRNA, protein:increased expression:lung
RGD
PMID:22940620
RGD:7364825
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
G
IL15
interleukin 15
ISO
RGD
PMID:18390740
RGD:4996474
NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
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IL1B
interleukin 1 beta
ISO
RGD
PMID:20065029
RGD:4142828
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL33
interleukin 33
ISO
mRNA:increased expression:lung:
RGD
PMID:28401938
RGD:40400699
NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
G
NOD2
nucleotide binding oligomerization domain containing 2
ISO
RGD
PMID:20493961
RGD:5131444
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
G
PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
protein:increased expression:lung (mouse)
RGD
PMID:28663335
RGD:13432209
NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
G
PTPN11
protein tyrosine phosphatase non-receptor type 11
severity
ISO
mRNA:increased expression:lung associated with influenza
RGD
PMID:31782850 PMID:31782850
RGD:39131288 , RGD:39131288
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
G
RIPK3
receptor interacting serine/threonine kinase 3
treatment
ISO
RGD
PMID:25445964
RGD:127229910
NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
G
SFTPB
surfactant protein B
ameliorates
IDA
RGD
PMID:20007532
RGD:151667448
NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
G
ATM
ATM serine/threonine kinase
exacerbates
ISO
RGD
PMID:27421701
RGD:126779562
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
G
BTK
Bruton tyrosine kinase
ISO
RGD
PMID:30873567
RGD:124715473
NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796
G
CLEC4M
C-type lectin domain family 4 member M
severity
ISO
RGD
PMID:16134084
RGD:39938986
NCBI chr19:7,763,243...7,769,605
Ensembl chr19:7,763,210...7,769,605
G
IDO1
indoleamine 2,3-dioxygenase 1
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:20385761
RGD:39938865
NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
G
IFNG
interferon gamma
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
G
IL6
interleukin 6
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
G
IRAK3
interleukin 1 receptor associated kinase 3
severity
ISO
RGD
PMID:22492852
RGD:35316076
NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
G
ITGB2
integrin subunit beta 2
susceptibility
ISO
RGD
PMID:11390487
RGD:127345090
NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989
G
LAMP1
lysosomal associated membrane protein 1
ISO
protein:increased expression:lung, natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr13:113,297,239...113,323,672
Ensembl chr13:113,297,239...113,323,672
G
MARCO
macrophage receptor with collagenous structure
exacerbates
ISO
RGD
PMID:15263032
RGD:41412189
NCBI chr 2:118,942,194...118,994,660
Ensembl chr 2:118,942,194...118,994,660
G
NCR1
natural cytotoxicity triggering receptor 1
severity
ISO
RGD
PMID:21887255
RGD:40818252
NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140
G
PDCD1
programmed cell death 1
treatment
ISO
RGD
PMID:25624454
RGD:40818422
NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
G
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
treatment
ISO
associated with immunodeficiency 14
RGD
PMID:30093657
RGD:40890269
NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
G
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
severity
ISO
RGD
PMID:17322108
RGD:38599154
NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
G
RIPK3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:33625952
RGD:127229925
NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
G
TNF
tumor necrosis factor
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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