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
ISO
RGD
PMID:11238654
RGD:5128828
NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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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:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Ager
advanced glycosylation end product-specific receptor
severity
ISO
RGD
PMID:21629785
RGD:6767559
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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C3
complement C3
ISO
RGD
PMID:16014897
RGD:5129508
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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C3ar1
complement C3a receptor 1
ISO
RGD
PMID:16461429
RGD:5129690
NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
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C5
complement C5
ISO
RGD
PMID:17975174
RGD:5129707
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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Cat
catalase
IDA
protein:decreased expression:lung, plasma
RGD
PMID:19842849
RGD:5130748
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccl19
C-C motif chemokine ligand 19
ISO
mRNA, protein:increased expression:lung
RGD
PMID:20176793
RGD:5130918
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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Ccl2
C-C motif chemokine ligand 2
ISO
RGD
PMID:20042590
RGD:4891443
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:20483921
RGD:5130905
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:20042590
RGD:4891443
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr7
C-C motif chemokine receptor 7
ISO
RGD
PMID:20176793
RGD:5130918
NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
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Cd14
CD14 molecule
ISO
RGD
PMID:16210672
RGD:4144197
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cd40
CD40 molecule
ISO
RGD
PMID:20102413
RGD:5132268
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd80
Cd80 molecule
ISO
RGD
PMID:20949109
RGD:4892562
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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Chuk
component of inhibitor of nuclear factor kappa B kinase complex
ISO
RGD
PMID:18643924
RGD:5133701
NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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Csf3
colony stimulating factor 3
disease_progression treatment
ISO
associated with Peritonitis;
RGD
PMID:21373266 PMID:12352049
RGD:5133733 , RGD:11039437
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Csf3r
colony stimulating factor 3 receptor
disease_progression
ISO
RGD
PMID:17185469
RGD:5133739
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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Cxcl1
C-X-C motif chemokine ligand 1
ISO IEP
RGD
PMID:21723409 PMID:11052817
RGD:5135062 , RGD:5135234
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Cxcl10
C-X-C motif chemokine ligand 10
severity
ISO
RGD
PMID:16299319 PMID:15618188
RGD:5135458 , RGD:5135459
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
RGD
PMID:15618188
RGD:5135459
NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271
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Cxcl2
C-X-C motif chemokine ligand 2
severity
ISO IEP
RGD
PMID:19239431 PMID:11052817 PMID:21723409
RGD:5135065 , RGD:5135234 , RGD:5135062
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Cxcl3
C-X-C motif chemokine ligand 3
IEP
RGD
PMID:11052817
RGD:5135234
NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
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Cxcl6
C-X-C motif chemokine ligand 6
ISO
RGD
PMID:19846873
RGD:4145490
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:15618188
RGD:5135459
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:15618188
RGD:5135459
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Cyp2j4
cytochrome P450, family 2, subfamily j, polypeptide 4
IEP
protein:decreased expression:lung
RGD
PMID:14766666
RGD:1625385
NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794
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Defb4
defensin beta 4
ISO
protein:increased expression:plasma
RGD
PMID:10213993
RGD:4892266
NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665
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Defb5
defensin beta 5
ISO
protein:increased expression:plasma
RGD
PMID:10213993
RGD:4892266
NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467
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F2
coagulation factor II, thrombin
IEP
protein:increased expression:lung
RGD
PMID:21897338
RGD:6893486
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Fcgr2a
Fc gamma receptor 2A
ISO
RGD
PMID:17975174
RGD:5129707
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Foxp3
forkhead box P3
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Gp1ba
glycoprotein Ib platelet subunit alpha
exacerbates
ISO
associated with Escherichia Coli Infections
RGD
PMID:27845343
RGD:42722624
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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Grk2
G protein-coupled receptor kinase 2
ISO
mRNA:decreased expression:polymorphonuclear leukocyte
RGD
PMID:24465168
RGD:126848796
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:lung (mouse)
RGD
PMID:19846873
RGD:4145490
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ifnar1
interferon alpha and beta receptor subunit 1
severity
ISO
RGD
PMID:19487810 PMID:19487810
RGD:5490274 , RGD:5490274
NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
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Ifng
interferon gamma
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il15
interleukin 15
ISO
RGD
PMID:17911627
RGD:5000754
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Il17a
interleukin 17A
severity
ISO
RGD
PMID:18802100 PMID:25398094
RGD:4889153 , RGD:38501102
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18
interleukin 18
ISO
RGD
PMID:17664259
RGD:4889913
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
severity treatment
ISO
associated with Agranulocytosis
RGD
PMID:18596024 PMID:25398094 PMID:7546648
RGD:4143205 , RGD:38501102 , RGD:10755357
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rl1
interleukin 1 receptor-like 1
treatment
ISO IEP
associated with Sepsis associated with Acinetobacter infectious disease
RGD
PMID:20959556 PMID:29508184
RGD:5144223 , RGD:40818077
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il1rn
interleukin 1 receptor antagonist
ISO
RGD
PMID:18596024 PMID:18322242
RGD:4143205 , RGD:4143206
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il22
interleukin 22
ISO
RGD
PMID:21178015
RGD:5147404
NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186
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Il6
interleukin 6
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irak3
interleukin-1 receptor-associated kinase 3
ISO
RGD
PMID:28120642 PMID:20439918
RGD:34888234 , RGD:36049799
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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Irf1
interferon regulatory factor 1
ISO
RGD
PMID:11854220
RGD:5128725
NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
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Irf3
interferon regulatory factor 3
ISO
RGD
PMID:20720199
RGD:4891951
NCBI chr 1:95,479,966...95,484,926
Ensembl chr 1:95,479,821...95,484,935
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Itgb3
integrin subunit beta 3
IEP
protein:increased expression:lung, neutrophil
RGD
PMID:15114484
RGD:4993468
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Lep
leptin
ISO
RGD
PMID:11937559
RGD:5128871
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Mapk8
mitogen-activated protein kinase 8
severity
ISO
associated with Escherichia Coli Infections
RGD
PMID:22514650
RGD:150340681
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Mbl2
mannose binding lectin 2
ISO
Legionella Pneumonia; DNA:mutations:5' utr, exon:multiple (human)
RGD
PMID:18641104
RGD:4889477
NCBI chr 1:228,016,439...228,024,736
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Mc1r
melanocortin 1 receptor
ISO
RGD
PMID:18304533
RGD:5687324
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:bronchoalveolar lavage fluid
RGD
PMID:17202364 PMID:19535150
RGD:5130727 , RGD:5129533
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mpo
myeloperoxidase
ISO
protein:increased activity:bronchoalveolar lavage Fluid:
RGD
PMID:11269653
RGD:5130992
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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Nod1
nucleotide-binding oligomerization domain containing 1
ISO
RGD
PMID:19360122
RGD:5131449
NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
RGD
PMID:19360122
RGD:5131449
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Pdpn
podoplanin
IEP
protein:increased expression:lung
RGD
PMID:7864138
RGD:2292375
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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Pecam1
platelet and endothelial cell adhesion molecule 1
IEP
protein:decreased expression:lung
RGD
PMID:12524254
RGD:724645
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Pgf
placental growth factor
ISO
protein:increased expression:plasma
RGD
PMID:16702604
RGD:6483601
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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Pten
phosphatase and tensin homolog
ameliorates
ISO
myeloid knockout
RGD
PMID:21527775
RGD:127285594
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ripk3
receptor-interacting serine-threonine kinase 3
ameliorates
ISO
RGD
PMID:28387756
RGD:127229944
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Rorc
RAR-related orphan receptor C
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr 2:182,009,707...182,034,910
Ensembl chr 2:182,009,286...182,034,907
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Serpine1
serpin family E member 1
severity
ISO
RGD
PMID:17032919
RGD:4144840
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Sftpa1
surfactant protein A1
IEP
protein:increased expression:lung
RGD
PMID:12169586
RGD:4143464
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Sftpb
surfactant protein B
ISO IEP
associated with Cystic Fibrosis;protein:increased expression:lung
RGD
PMID:15271694 PMID:12169586
RGD:4143403 , RGD:4143464
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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Sftpc
surfactant protein C
ISO IEP
RGD
PMID:18566429 PMID:12169586
RGD:4144114 , RGD:4143464
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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Sftpd
surfactant protein D
ISO IEP
associated with Cystic Fibrosis;protein:decreased expression:lung protein:increased expression:lung
RGD
PMID:15271694 PMID:12169586
RGD:4143403 , RGD:4143464
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:18192501
RGD:6892945
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tgfb1
transforming growth factor, beta 1
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tlr2
toll-like receptor 2
ISO IDA
RGD
PMID:18768871 PMID:19844782
RGD:4145337 , RGD:4889533
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:20650991 PMID:16210672
RGD:4144172 , RGD:4144197
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
ISO
RGD
PMID:19801452
RGD:5129503
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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Tlr6
toll-like receptor 6
IDA
RGD
PMID:19844782
RGD:4889533
NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
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Tlr9
toll-like receptor 9
ISO
RGD
PMID:20360853
RGD:5130719
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
disease_progression treatment severity
ISO
associated with Agranulocytosis
RGD
PMID:10650487 PMID:7546648 PMID:9310939 PMID:12958055
RGD:4143476 , RGD:10755357 , RGD:10450564 , RGD:10449451
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
protein:increased expression:serum (mouse)
RGD
PMID:19842848
RGD:5131429
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:serum (mouse)
RGD
PMID:19842848
RGD:5131429
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Trem1
triggering receptor expressed on myeloid cells 1
severity ameliorates
ISO IDA
RGD
PMID:24465168 PMID:16960786 PMID:22996209
RGD:126848796 , RGD:127229902 , RGD:126925987
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Zc3h12a
zinc finger CCCH type containing 12A
ISO
associated with Pseudomonas Infections
RGD
PMID:29695841
RGD:39938967
NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
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Ace
angiotensin I converting enzyme
ISO
associated with Cerebrovascular Accident
RGD
PMID:14990394
RGD:4140926
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Cxcl1
C-X-C motif chemokine ligand 1
IEP
RGD
PMID:19515386
RGD:4891456
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Cxcl2
C-X-C motif chemokine ligand 2
IEP
RGD
PMID:19515386
RGD:4891456
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Edn1
endothelin 1
IEP
protein:increased secretion:plasma (rat)
RGD
PMID:19262391
RGD:4145069
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Il1a
interleukin 1 alpha
IEP
protein:increased expression:Bronchoalveolar Lavage Fluid
RGD
PMID:18042282
RGD:4142854
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15607125
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Tnf
tumor necrosis factor
IEP
protein:increased expression:Bronchoalveolar Lavage Fluid
RGD
PMID:18042282
RGD:4142854
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Cd274
CD274 molecule
ISO
mRNA:increased expression:lung
RGD
PMID:26378990
RGD:41412180
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Pdcd1
programmed cell death 1
ISO
mRNA:increased expression:lung
RGD
PMID:26378990
RGD:41412180
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
severity
ISO
RGD
PMID:29893841
RGD:40890270
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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Il23a
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:16157683
RGD:39457940
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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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 chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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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 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Plac8
placenta associated 8
severity
ISO
RGD
PMID:17404296
RGD:40924563
NCBI chr14:9,052,601...9,074,264
Ensembl chr14:9,063,048...9,074,264
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Trem1
triggering receptor expressed on myeloid cells 1
disease_progression
ISO
RGD
PMID:24396044
RGD:126925976
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Ada
adenosine deaminase
ISO
protein:increased expression:serum
RGD
PMID:9255891
RGD:5128857
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:16113250
RGD:4891897
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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Cxcl1
C-X-C motif chemokine ligand 1
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Cxcl2
C-X-C motif chemokine ligand 2
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Cxcl6
C-X-C motif chemokine ligand 6
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
RGD
PMID:11254553
RGD:5135252
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11349020
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il18
interleukin 18
ISO
RGD
PMID:11083766
RGD:4889865
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Mbl2
mannose binding lectin 2
susceptibility
ISO
RGD
PMID:19073229
RGD:12910934
NCBI chr 1:228,016,439...228,024,736
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Nod1
nucleotide-binding oligomerization domain containing 1
ISO
RGD
PMID:20685341
RGD:5131443
NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
RGD
PMID:20685341
RGD:5131443
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Tlr5
toll-like receptor 5
susceptibility
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 chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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Tlr9
toll-like receptor 9
ISO
RGD
PMID:18426877
RGD:5130707
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:18838275
RGD:5131445
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
RGD
PMID:18838275
RGD:5131445
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Ada
adenosine deaminase
ISO
protein:increased expression:serum
RGD
PMID:9255891
RGD:5128857
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Atp1b2
ATPase Na+/K+ transporting subunit beta 2
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
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Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:16988274
RGD:4892091
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:lung, secretion (mouse)
RGD
PMID:18717637
RGD:4891914
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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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 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Clec5a
C-type lectin domain containing 5A
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 4:69,407,125...69,416,872
Ensembl chr 4:69,407,835...69,416,859
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Col3a1
collagen type III alpha 1 chain
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Col6a1
collagen type VI alpha 1 chain
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
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Col6a2
collagen type VI alpha 2 chain
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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Crp
C-reactive protein
ISO
RGD
PMID:21426633
RGD:5131292
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Dnase1l3
deoxyribonuclease 1L3
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr15:16,922,335...16,948,322
Ensembl chr15:16,922,335...16,948,317
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Fcer2
Fc epsilon receptor II
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr12:1,742,809...1,754,476
Ensembl chr12:1,742,815...1,754,476
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Flt1
Fms related receptor tyrosine kinase 1
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Galc
galactosylceramidase
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 chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830
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Hdc
histidine decarboxylase
ISO
RGD
PMID:17158962
RGD:5143920
NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341
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Htra3
HtrA serine peptidase 3
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr14:75,068,917...75,097,315
Ensembl chr14:75,068,917...75,097,315
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Ifng
interferon gamma
ISO
mRNA:increased expression:lung:
RGD
PMID:7935058
RGD:10755754
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:serum
RGD
PMID:20416219
RGD:4145765
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il22ra2
interleukin 22 receptor subunit alpha 2
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 1:14,353,736...14,377,844
Ensembl chr 1:14,364,489...14,377,844
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Inhba
inhibin subunit beta A
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
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Klrb1
killer cell lectin like receptor B1
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 4:162,456,294...162,474,989
Ensembl chr 4:162,456,294...162,474,989
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Ms4a1
membrane spanning 4-domains A1
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
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Pld4
phospholipase D family, member 4
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 6:131,818,860...131,827,457
Ensembl chr 6:131,818,860...131,826,376
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Spib
Spi-B transcription factor
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 1:95,018,939...95,024,804
Ensembl chr 1:95,018,947...95,024,780
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Tcf7
transcription factor 7
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr10:36,423,443...36,454,350
Ensembl chr10:36,423,445...36,453,535
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Tcl1a
Tcl1 family Akt coactivator A
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:20416219
RGD:4145765
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf13c
TNF receptor superfamily member 13C
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
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Aicda
activation-induced cytidine deaminase
ISO
RGD
PMID:26456931
RGD:11098923
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Alox5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:20231413
RGD:4890435
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Btk
Bruton tyrosine kinase
ameliorates
ISO
RGD
PMID:30646846
RGD:124715470
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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C3
complement C3
disease_progression
ISO IEP
protein:decreased expression:serum associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion
RGD
PMID:20405 PMID:15972516 PMID:17956621
RGD:5130163 , RGD:5129509 , RGD:5129523
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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C5
complement C5
severity
ISO
RGD
PMID:7814608
RGD:5130159
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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Ccl5
C-C motif chemokine ligand 5
susceptibility
ISO
RGD
PMID:16455992
RGD:4892130
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Cd14
CD14 molecule
ISO
RGD
PMID:17185649
RGD:4144788
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:10515841
RGD:4892626
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Crhr1
corticotropin releasing hormone receptor 1
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
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Crhr2
corticotropin releasing hormone receptor 2
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
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Crp
C-reactive protein
disease_progression
ISO
RGD
PMID:21281676
RGD:5131293
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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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 chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:lung
RGD
PMID:20381636
RGD:5135285
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Defb5
defensin beta 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467
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Hmox1
heme oxygenase 1
ISO
associated with influenza;protein:increased expression:lung
RGD
PMID:17348295
RGD:4145366
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hp
haptoglobin
ISO
RGD
PMID:19396720
RGD:5147385
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Il15
interleukin 15
ISO
protein:increased expression:alveolar macrophage, bronchial epithelial cell
RGD
PMID:17611121
RGD:5000755
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Il15ra
interleukin 15 receptor subunit alpha
ISO
RGD
PMID:17611121
RGD:5000755
NCBI chr17:66,802,300...66,831,973
Ensembl chr17:66,802,334...66,832,278
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Il17a
interleukin 17A
ISO
RGD
PMID:19995896
RGD:4888531
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18
interleukin 18
ISO
RGD
PMID:15770015
RGD:4889960
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il6
interleukin 6
ISO
RGD
PMID:20643849
RGD:4143255
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Lep
leptin
ISO
RGD
PMID:17822444
RGD:5128869
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepr
leptin receptor
ISO
RGD
PMID:21148797
RGD:5128846
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mapk3
mitogen activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Masp2
MBL associated serine protease 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12904520
NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
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Mbl2
mannose binding lectin 2
no_association
ISO
DNA:mutations:5' utr, exon:multiple (human) DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:18641104 PMID:12047967
RGD:4889477 , RGD:4889478
NCBI chr 1:228,016,439...228,024,736
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Nos2
nitric oxide synthase 2
ISO
RGD
PMID:17056580
RGD:4891950
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Pten
phosphatase and tensin homolog
ameliorates
ISO
myeloid knockout
RGD
PMID:20505137
RGD:127285597
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Sftpd
surfactant protein D
severity
ISO
RGD
PMID:16255775
RGD:4143519
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29263110
RGD:39128230
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:19956717
RGD:4145321
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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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 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Akt1
AKT serine/threonine kinase 1
treatment
ISO
RGD
PMID:23613163
RGD:38676477
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Cd86
CD86 molecule
ISO
protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse)
RGD
PMID:20949109
RGD:4892562
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cftr
CF transmembrane conductance regulator
ISO
RGD
PMID:28289144
RGD:36049750
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:10228098
RGD:11039478
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Fn1
fibronectin 1
IDA
RGD
PMID:12065530
RGD:7205474
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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Ifnar1
interferon alpha and beta receptor subunit 1
susceptibility
ISO
RGD
PMID:19603548 PMID:19603548
RGD:5490273 , RGD:5490273
NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
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Il10
interleukin 10
ISO
mRNA, protein:increased expression:lung
RGD
PMID:22940620
RGD:7364825
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il15
interleukin 15
ISO
RGD
PMID:18390740
RGD:4996474
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Il1b
interleukin 1 beta
ISO
RGD
PMID:20065029
RGD:4142828
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il33
interleukin 33
ISO
mRNA:increased expression:lung:
RGD
PMID:28401938
RGD:40400699
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Nod2
nucleotide-binding oligomerization domain containing 2
ISO
RGD
PMID:20493961
RGD:5131444
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
protein:increased expression:lung (mouse)
RGD
PMID:28663335
RGD:13432209
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ripk3
receptor-interacting serine-threonine kinase 3
treatment
ISO
RGD
PMID:25445964
RGD:127229910
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Sftpb
surfactant protein B
ameliorates
ISO
RGD
PMID:20007532
RGD:151667448
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
G
Atm
ATM serine/threonine kinase
exacerbates
ISO
RGD
PMID:27421701
RGD:126779562
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
Btk
Bruton tyrosine kinase
ISO
RGD
PMID:30873567
RGD:124715473
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
G
Clec4m
C-type lectin domain family 4 member M
severity
ISO
RGD
PMID:16134084
RGD:39938986
NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:20385761
RGD:39938865
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
G
Ifng
interferon gamma
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il6
interleukin 6
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Irak3
interleukin-1 receptor-associated kinase 3
severity
ISO
RGD
PMID:22492852
RGD:35316076
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
G
Itgb2
integrin subunit beta 2
susceptibility
ISO
RGD
PMID:11390487
RGD:127345090
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
G
Lamp1
lysosomal-associated membrane protein 1
ISO
protein:increased expression:lung, natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr16:76,355,982...76,380,700
Ensembl chr16:76,355,984...76,381,883
G
Marco
macrophage receptor with collagenous structure
exacerbates
ISO
RGD
PMID:15263032
RGD:41412189
NCBI chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521
G
Ncr1
natural cytotoxicity triggering receptor 1
severity
ISO
RGD
PMID:21887255
RGD:40818252
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
G
Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:25624454
RGD:40818422
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
G
Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
treatment
ISO
associated with immunodeficiency 14
RGD
PMID:30093657
RGD:40890269
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
G
Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
severity
ISO
RGD
PMID:17322108
RGD:38599154
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
G
Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
ISO
RGD
PMID:33625952
RGD:127229925
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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