RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: commensal bacterial infectious disease
Accession: DOID:0050339
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Definition: A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. (DO)
Synonyms: primary_id: RDO:9002545
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CCR5
C-C motif chemokine receptor 5
ISO
RGD
PMID:16118671
RGD:8549760
NCBI chr22:7,803,794...7,818,112
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CD40
CD40 molecule
ISO
RGD
PMID:20102413
RGD:5132268
NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566
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FOXP3
forkhead box P3
treatment
ISO
RGD
PMID:30832593
RGD:38455984
NCBI chr X:46,349,890...46,365,133
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ICAM1
intercellular adhesion molecule 1
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:19728926
RGD:4145507
NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263
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IDO1
indoleamine 2,3-dioxygenase 1
treatment
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:30832593 PMID:31249813
RGD:38455984 RGD:39938856
NCBI chr 8:37,930,910...37,950,790
Ensembl chr 8:37,930,562...37,946,505
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IFNG
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19203382
NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473
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IL13
interleukin 13
ISO
RGD
PMID:21573182
RGD:5684365
NCBI chr23:35,475,762...35,479,419
Ensembl chr23:35,476,490...35,478,869
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IL17A
interleukin 17A
ISO
associated with Bronchial Hyprractivity; mRNA:increased expression:lung
RGD
PMID:19812198 PMID:20228193
RGD:4888528 RGD:4889101
NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785
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TGFB1
transforming growth factor beta 1
treatment
ISO
RGD
PMID:30832593
RGD:38455984
NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19203382
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CD274
CD274 molecule
ISO
mRNA:increased expression:lung
RGD
PMID:26378990
RGD:41412180
NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806
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PDCD1
programmed cell death 1
ISO
mRNA:increased expression:lung
RGD
PMID:26378990
RGD:41412180
NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088
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PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
severity
ISO
RGD
PMID:29893841
RGD:40890270
NCBI chr20:122,040,131...122,111,397
Ensembl chr20:122,041,963...122,078,504
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GSN
gelsolin
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:9142022
RGD:329333022
NCBI chr12:18,253,079...18,317,285
Ensembl chr12:18,253,324...18,285,938
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ADK
adenosine kinase
ISO
RGD
PMID:8207212
RGD:6482670
NCBI chr 9:56,659,284...57,222,279
Ensembl chr 9:56,660,129...57,222,147
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ADM
adrenomedullin
ISO
RGD
PMID:17318497 PMID:17766482
RGD:1625310 RGD:1642599
NCBI chr 1:54,518,359...54,520,683
Ensembl chr 1:54,518,358...54,520,686
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ADRB2
adrenoceptor beta 2
treatment disease_progression
ISO
DNA:polymorphism: :rs1042717(human)
RGD
PMID:16076286 PMID:19850944
RGD:8548487 RGD:8548529
NCBI chr23:51,445,920...51,447,942
Ensembl chr23:51,446,154...51,447,401
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AGER
advanced glycosylation end-product specific receptor
ISO
RGD
PMID:21270403
RGD:6767566
NCBI chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127
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AQP1
aquaporin 1 (Colton blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24028651
NCBI chr21:27,456,553...27,473,196
Ensembl chr21:27,456,259...27,470,728
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C5AR1
complement C5a receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18063050
NCBI chr 6:40,633,540...40,651,839
Ensembl chr 6:40,633,448...40,652,845
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CCKBR
cholecystokinin B receptor
ISO
mRNA:increased expression:myocardium
RGD
PMID:15948246
RGD:2311332
NCBI chr 1:58,555,463...58,569,949
Ensembl chr 1:58,555,321...58,568,031
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CCL2
C-C motif chemokine ligand 2
disease_progression
ISO
RGD
PMID:28834779
RGD:14995949
NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416
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CD274
CD274 molecule
severity
ISO
protein:increased expression:serum protein:increased expression:lymphocyte, mononcyte
RGD
PMID:26063974 PMID:29702526
RGD:40822808 RGD:41410786
NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806
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ELANE
elastase, neutrophil expressed
treatment
ISO
RGD
PMID:18323746
RGD:10450579
NCBI chr 6:599,392...604,925
Ensembl chr 6:601,217...604,725
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ENO2
enolase 2
ISO
proteiin:increased expression:serum
RGD
PMID:17083782
RGD:2293748
NCBI chr11:6,945,243...6,954,959
Ensembl chr11:6,945,413...6,957,304
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FANCC
FA complementation group C
ISO
RGD
PMID:17404312
RGD:11045879
NCBI chr12:107,780,087...107,991,828
Ensembl chr12:107,845,135...107,991,237
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GC
GC vitamin D binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17852808
NCBI chr 7:20,254,604...20,298,384
Ensembl chr 7:20,253,879...20,298,265
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GRK2
G protein-coupled receptor kinase 2
ISO
mRNA:decreased expression:polymorphonuclear leukocyte
RGD
PMID:24465168
RGD:126848796
NCBI chr 1:6,975,202...6,995,369
Ensembl chr 1:6,975,002...6,995,259
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HMOX1
heme oxygenase 1
ISO
RGD
PMID:18208666
RGD:4145362
NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971
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IDO1
indoleamine 2,3-dioxygenase 1
severity
ISO
protein:increased activity, increased expression:plasma, heart (human)
RGD
PMID:21765346
RGD:39939075
NCBI chr 8:37,930,910...37,950,790
Ensembl chr 8:37,930,562...37,946,505
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IFNG
interferon gamma
ISO
protein:increased expression:plasma
RGD
PMID:25403265
RGD:38455982
NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473
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IL10
interleukin 10
severity onset
ISO
protein:increased expression:lung (mouse) protein:increased expression:plasma
RGD
PMID:7593621 PMID:12117955 PMID:25403265 PMID:28659355
RGD:11049456 RGD:1598471 RGD:38455982 RGD:40890272
NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
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IL19
interleukin 19
ISO
protein:increased expression:serum
RGD
PMID:18246602
RGD:5037232
NCBI chr25:22,514,199...22,523,680
Ensembl chr25:22,514,559...22,520,499
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IL1B
interleukin 1 beta
severity
ISO
protein:increased expression:lung (mouse)
RGD
PMID:28659355
RGD:40890272
NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
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IL1RN
interleukin 1 receptor antagonist
susceptibility treatment
ISO
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism:: human gene in a mouse model
RGD
PMID:15516267 PMID:23014359
RGD:11522756 RGD:8551736
NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326
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IL20RA
interleukin 20 receptor subunit alpha
ISO
mRNA:increased expression:multiple
RGD
PMID:18246602
RGD:5037232
NCBI chr13:36,351,873...36,397,300
Ensembl chr13:36,352,018...36,397,302
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IL20RB
interleukin 20 receptor subunit beta
ISO
mRNA:increased expression:multiple
RGD
PMID:18246602
RGD:5037232
NCBI chr15:53,446,410...53,493,827
Ensembl chr15:53,448,034...53,493,618
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IL27
interleukin 27
ISO
protein, mRNA:increased expression:blood serum, spleen (mouse)
RGD
PMID:20435892
RGD:126790535
NCBI chr 5:26,348,559...26,358,028
Ensembl chr 5:26,348,848...26,356,360
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IL6
interleukin 6
treatment
ISO
RGD
PMID:2124237
RGD:11060276
NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
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LOC103221743
heat shock 70 kDa protein 1A
susceptibility
ISO
associated wit community-acquired pneumonia;DNA:SNP: :1267A>G (human)
RGD
PMID:12771604
RGD:5147601
NCBI chr17:40,191,695...40,194,459
Ensembl chr17:40,203,936...40,205,858
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LOC103233689
thromboxane A2 receptor
treatment
ISO
RGD
PMID:7816742
RGD:11059599
NCBI chr 6:3,354,358...3,365,779
Ensembl chr 6:3,355,314...3,359,761
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MBL2
mannose binding lectin 2
susceptibility
ISO
associated with acute pyelonephritis;DNA:SNPs, missense mutations, haplotypes:promoter, cds:multiple
RGD
PMID:17202308
RGD:6903268
NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079
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MC2R
melanocortin 2 receptor
ISO
protein:increased expression:liver (rat)
RGD
PMID:2822467
RGD:6484558
NCBI chr18:72,286,380...72,296,607
Ensembl chr18:72,288,224...72,289,105
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MHC-DRA
major histocompatibility complex, class II, DR alpha
disease_progression
ISO
CTD Direct Evidence: marker/mechanism associated with Burns
RGD CTD
PMID:15644645 PMID:17568330 PMID:28771573
RGD:5490160 RGD:5490203
NCBI chr17:39,623,324...39,628,464
Ensembl chr17:39,622,402...39,629,261
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MIF
macrophage migration inhibitory factor
ISO
RGD
PMID:17381395 PMID:17565848
RGD:1641978 RGD:4891013
NCBI chr19:7,000,837...7,001,700
Ensembl chr19:7,000,793...7,001,757
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NFKBIA
NFKB inhibitor alpha
treatment
ISO
RGD
PMID:11961112
RGD:126928137
NCBI chr24:12,211,619...12,216,185
Ensembl chr24:12,210,281...12,214,854
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NOS2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:8745224 PMID:16601845
RGD:1580268
NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257
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NPPC
natriuretic peptide C
ISO
protein:increased expression:plasma
RGD
PMID:8117275
RGD:1642297
NCBI chr10:117,919,889...117,924,306
Ensembl chr10:117,919,760...117,924,273
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OGG1
8-oxoguanine DNA glycosylase
ISO
RGD
PMID:15677345
RGD:8657146
NCBI chr22:45,757,414...45,763,690
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PARP1
poly(ADP-ribose) polymerase 1
ISO
RGD
PMID:12445868
RGD:10414070
NCBI chr25:3,350,798...3,405,040
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PDCD1
programmed cell death 1
severity
ISO
protein:increased expression:lymphocyte, mononcyte protein:increased expression:serum
RGD
PMID:26063974 PMID:29702526
RGD:40822808 RGD:41410786
NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088
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PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
severity
ISO
RGD
PMID:28659355
RGD:40890272
NCBI chr20:122,040,131...122,111,397
Ensembl chr20:122,041,963...122,078,504
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PLAUR
plasminogen activator, urokinase receptor
ISO
RGD
PMID:20693875
RGD:6484122
NCBI chr 6:37,161,957...37,191,867
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PROC
protein C, inactivator of coagulation factors Va and VIIIa
treatment
ISO
RGD
PMID:19320827 PMID:21850534
RGD:11100015 RGD:11100041
NCBI chr10:2,789,227...2,799,783
Ensembl chr10:2,789,277...2,799,531
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PTX3
pentraxin 3
ISO
protein:increased expression:plasma (human)
RGD
PMID:30687307
RGD:38508896
NCBI chr15:33,320,592...33,327,236
Ensembl chr15:33,321,208...33,327,268
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REN
renin
exacerbates
ISO
protein:increased activity:blood plasma (human)
RGD
PMID:31723628
RGD:125097502
NCBI chr25:25,159,816...25,193,620
Ensembl chr25:25,183,037...25,193,420
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SELL
selectin L
ISO
protein:increased expression:plasma
RGD
PMID:19375498
RGD:5685700
NCBI chr25:59,345,080...59,365,684
Ensembl chr25:59,345,069...59,366,946
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SERPINC1
serpin family C member 1
treatment
ISO
RGD
PMID:16732381
RGD:1599323
NCBI chr25:55,271,823...55,289,855
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SERPINE1
serpin family E member 1
susceptibility
ISO
associated with Pneumonia; DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:20429897
RGD:4144828
NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202
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SERPINF1
serpin family F member 1
severity
ISO
protein:decreased expression:plasma (human)
RGD
PMID:6158114
RGD:36174004
NCBI chr16:1,408,453...1,424,197
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SERPING1
serpin family G member 1
treatment
ISO
RGD
PMID:8172580
RGD:8661646
NCBI chr 1:15,617,122...15,634,540
Ensembl chr 1:15,616,674...15,633,855
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SFTPB
surfactant protein B
ISO
associated with Pneumonia;DNA:polymorphism: :1580C>T (human)
RGD
PMID:15190959
RGD:4143404
NCBI chr14:21,487,424...21,497,491
Ensembl chr14:21,488,387...21,499,850
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SOCS1
suppressor of cytokine signaling 1
severity
ISO
RGD
PMID:19469017
RGD:150573701
NCBI chr 5:10,731,866...10,733,745
Ensembl chr 5:10,732,350...10,732,991
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TFPI
tissue factor pathway inhibitor
treatment
ISO
RGD
PMID:11776329
RGD:11062085
NCBI chr10:73,004,762...73,105,772
Ensembl chr10:73,002,522...73,105,858
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THPO
thrombopoietin
ISO
protein:increased expression:serum:
RGD
PMID:20467749
RGD:10449021
NCBI chr15:5,040,684...5,048,387
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TNF
tumor necrosis factor
treatment
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:peritoneal macrophage, cell surface (rat)
CTD RGD
PMID:2213560 PMID:12622907 PMID:20054000
RGD:10449465 RGD:1598936
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TREM1
triggering receptor expressed on myeloid cells 1
ISO
mRNA:decreased expression:polymorphonuclear leukocyte
RGD
PMID:24465168
RGD:126848796
NCBI chr17:30,873,647...30,885,292
Ensembl chr17:30,873,666...30,886,967
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ZC3H12A
zinc finger CCCH-type containing 12A
ISO
RGD
PMID:23422584
RGD:39938961
NCBI chr20:95,388,469...95,398,305
Ensembl chr20:95,388,477...95,397,960
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CXCL8
C-X-C motif chemokine ligand 8
susceptibility
ISO
DNA:SNP:promoter:g.-251A>T (rs4073) (human)
RGD
PMID:20015396
RGD:150520200
NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068
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IL10
interleukin 10
severity no_association
ISO
DNA:SNP:promoter:−1082G>A (human) DNA:SNP, haplotype:promoter:−1082G>A (human) DNA:SNP:promoter:−819T>C, −592A>C (human) DNA:haplotype: : protein:increased expression:tear
RGD
PMID:11023480 PMID:15789056 PMID:17947295 PMID:18628987
RGD:7365037 RGD:7365053 RGD:7365072 RGD:7365085
NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
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IL17A
interleukin 17A
ISO
mRNA:increased expression:conjunctiva (human)
RGD
PMID:21911461
RGD:9068420
NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785
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TNF
tumor necrosis factor
ISO
DNA:SNP, haplotypes:promoter:−308G>A (human)
RGD
PMID:17330135
RGD:8548830
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COL1A1
collagen type I alpha 1 chain
ISO
mRNA:decreased expression:tarsal conjunctiva (human)
RGD
PMID:20375326
RGD:8552676
NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930
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CD163
CD163 molecule
ISO
protein:increased expression:duodenum, macrophage (human)
RGD
PMID:19664628
RGD:149735573
NCBI chr11:7,501,562...7,536,332
Ensembl chr11:7,501,150...7,536,295
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