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: pulmonary tuberculosis
Accession: DOID:2957
browse the term
Definition: A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis. (DO)
Synonyms: exact_synonym: Pulmonary Consumption; Pulmonary Phthises; Pulmonary Phthisis; pulmonary consumptions; pulmonary tuberculoses
primary_id: MESH:D014397
xref: EFO:1000049 ; ICD10CM:A15 ; ICD9CM:011 ; NCI:C26899
For additional species annotation, visit the
Alliance of Genome Resources .
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Abcb1a
ATP binding cassette subfamily B member 1A
treatment
ISO
DNA:SNP: :2677G>A (human)
RGD
PMID:26067842
RGD:11098541
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
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Ada
adenosine deaminase
ISO
protein:increased expression:plasma, respiratory system fluid/secretion protein:increased activity:sputum: protein:increased activity:blood, pulmonary alveolar duct
RGD
PMID:12194640 PMID:19460251 PMID:2212911
RGD:5128854 , RGD:152995271 , RGD:152995390
NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:152,398,747...152,447,088
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:plasma
RGD
PMID:22022605
RGD:5686405
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
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Akt1
AKT serine/threonine kinase 1
susceptibility
ISO
DNA:SNP,haplotype:intron: IVS3+18 C/C (human)
RGD
PMID:20141546
RGD:38676498
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
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Alox5
arachidonate 5-lipoxygenase
susceptibility
ISO
DNA:polymorphism, repeat:promoter, exon:g.760G>A (human)
RGD
PMID:18174194
RGD:4890411
NCBI chr 4:151,203,948...151,251,126
Ensembl chr 4:149,531,515...149,578,743
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Asap1
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25774636
NCBI chr 7:97,675,354...97,982,523
Ensembl chr 7:95,787,818...96,092,754
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Atf3
activating transcription factor 3
ISO
mRNA,protein:increased expression:lung
RGD
PMID:20856677
RGD:34888225
NCBI chr13:105,274,103...105,331,653
Ensembl chr13:102,751,321...102,764,631
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C3
complement C3
ISO
RGD
PMID:19472039
RGD:5129500
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
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Ccl1
C-C motif chemokine ligand 1
susceptibility
ISO
mRNA:increased expression:lung, dendritic cell DNA:SNP: :multiple (human)
RGD
PMID:18703681 PMID:19057661
RGD:4891409 , RGD:4891408
NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
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Ccl19
C-C motif chemokine ligand 19
ISO
mRNA:increased expression:lung
RGD
PMID:19933855
RGD:5130906
NCBI chr 5:61,759,220...61,761,164
Ensembl chr 5:56,963,364...56,965,308
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Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO
DNA:polymorphism: :-2518A>G (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16352737 PMID:18940815 PMID:20111728
RGD:4891439
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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Ccl5
C-C motif chemokine ligand 5
susceptibility
ISO
DNA:snps:5' utr:g.-403G>A rs2280788, g.-28C>G rs2107538 (human) mRNA:increased expression:lung (human)
RGD
PMID:19335954 PMID:15128813
RGD:4891879 , RGD:4892112
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
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Ccr2
C-C motif chemokine receptor 2
disease_progression
ISO
RGD
PMID:11438742
RGD:734715
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100
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Ccr5
C-C motif chemokine receptor 5
ISO
protein:decreased expression:blood, T cell (human)
RGD
PMID:16379602
RGD:4892094
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd14
CD14 molecule
susceptibility
ISO
DNA:polymorphism:promoter:c. -159C>T (human)|protein:increased expression:monocyte, serum
RGD
PMID:18008256 PMID:18008256
RGD:4144205 , RGD:4144205
NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,335,340...28,337,261
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Cd163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood plasma, CD14-positive monocyte (human) protein:increased expression:blood serum (human)
RGD
PMID:27685837 PMID:27684274
RGD:127285801 , RGD:127345136
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd1d1
CD1d1 molecule
susceptibility
ISO
DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human)
RGD
PMID:30972222
RGD:127345096
NCBI chr 2:174,721,522...174,725,029
Ensembl chr 2:172,423,582...172,427,089
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Cd209d
CD209d molecule
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs:promoter:-139G>A, -336A>G, -871A>G (rs2287886,rs4804803,rs735239) (human) associated with HIV Seropositivity; DNA:SNP:promoter: -336A>G (rs4804803) (human)
CTD RGD
PMID:16379498 PMID:24874302 PMID:19126442
RGD:39938981 , RGD:39939062
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cd274
CD274 molecule
ISO
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793
RGD:40818418
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:227,116,649...227,134,450
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Cd36
CD36 molecule
susceptibility
ISO
DNA:SNPs: :rs1194182, rs10499859(human)
RGD
PMID:28693442
RGD:41412192
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cd86
CD86 molecule
ISO
protein:decreased expression:sputum, macrophage (human)
RGD
PMID:17713660
RGD:4892339
NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818
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Clec4m
C-type lectin domain family 4 member M
susceptibility
ISO
DNA:repeats:exon 4: allele 4, allele 5, allele 9 (human)
RGD
PMID:19770268 PMID:17224292 PMID:24874302
RGD:39938983 , RGD:39938987 , RGD:39938981
NCBI chr12:6,713,795...6,722,414
Ensembl chr12:1,915,919...1,924,539
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Crp
C-reactive protein
severity
ISO
associated with HIV Infections
RGD
PMID:21219690 PMID:21197091
RGD:5131284 , RGD:5131287
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178
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Cxcl10
C-X-C motif chemokine ligand 10
treatment
ISO
RGD
PMID:29843631
RGD:27095956
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl2
C-X-C motif chemokine ligand 2
disease_progression
ISO
RGD
PMID:20454613
RGD:5135037
NCBI chr14:17,465,210...17,467,255
Ensembl chr14:17,181,062...17,183,075
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Cxcl6
C-X-C motif chemokine ligand 6
susceptibility
ISO
mRNA:increased expression:lung
RGD
PMID:16790804
RGD:5135246
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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Cyba
cytochrome b-245 alpha chain
no_association
ISO
DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human)
RGD
PMID:16608528
RGD:4780358
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Ddit3
DNA-damage inducible transcript 3
ISO
mRNA,protein:increased expression:lung
RGD
PMID:20856677
RGD:34888225
NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:63,116,380...63,121,201
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Egfr
epidermal growth factor receptor
disease_progression
ISO
associated with lung adenocarcinoma;
RGD
PMID:29621876 PMID:22173705
RGD:38599162 , RGD:38599176
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Ereg
epiregulin
susceptibility
ISO
DNA:SNP:exon 4: (rs2367707) (human)
RGD
PMID:30634928
RGD:39457687
NCBI chr14:17,311,485...17,325,260
Ensembl chr14:17,027,287...17,041,062
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Foxp3
forkhead box P3
susceptibility
ISO
DNA:polymorphism:promoter:-924A>G(human)
RGD
PMID:29020928
RGD:38501101
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:14,908,494...14,923,838
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Gbe1
1,4-alpha-glucan branching enzyme 1
ISO
DNA:SNP:intron:rs2307058 (human)
RGD
PMID:28355295
RGD:18337291
NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
associated with GSTT1 null deletion; DNA:deletion: :
RGD
PMID:20297661
RGD:4140932
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:20297661
RGD:4140932
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Havcr2
hepatitis A virus cellular receptor 2
ISO
RGD
PMID:21382414
RGD:5135524
NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
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Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:32369456
RGD:39939073
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Il13
interleukin 13
ISO
mRNA:increased expression:Leukocytes, Mononuclear
RGD
PMID:10608794
RGD:4145649
NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737
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Il15
interleukin 15
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11742275
RGD:4990461
NCBI chr19:42,536,160...42,611,349
Ensembl chr19:25,640,251...25,706,820
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Il18
interleukin 18
ISO
protein:increased expression:serum
RGD
PMID:15955140
RGD:4889836
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:9176116
RGD:4142835
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
severity susceptibility
ISO
protein:increased expression:lung protein:increased expression:bronchioalveolar lavage fluid (human) DNA:polymorphism: :3953T>C (human)
RGD
PMID:10543265 PMID:10631206 PMID:16634865
RGD:4143180 , RGD:4143179 , RGD:5147843
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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Il1rl1
interleukin 1 receptor-like 1
ISO
RGD
PMID:28128217
RGD:39938965
NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:42,697,192...42,727,256
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Il1rn
interleukin 1 receptor antagonist
severity
ISO
protein:increased expression:lung, serum
RGD
PMID:10543265 PMID:10631206 PMID:14619382
RGD:4143180 , RGD:4143179 , RGD:4143174
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
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Il23a
interleukin 23 subunit alpha
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:16002675 PMID:11801672 PMID:20624887 PMID:21156751
RGD:39457949 , RGD:39457953 , RGD:39458036 , RGD:39458038
NCBI chr 7:1,306,320...1,308,434
Ensembl chr 7:721,809...723,923
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Il27
interleukin 27
exacerbates
ISO
DNA:SNPs:promoter, exon:-964A>G, 2905T>G (human) DNA:SNPs:promoter,exons:-964A>G, 2905T>G, 4730T>C (rs153109, rs17855750, rs181206) (human)
RGD
PMID:31949807 PMID:30948177
RGD:126790508 , RGD:39456132
NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:181,173,372...181,178,582
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Il27ra
interleukin 27 receptor subunit alpha
ISO
RGD
PMID:15749890
RGD:5128486
NCBI chr19:24,109,963...24,121,977
Ensembl chr19:24,109,972...24,121,938
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Il33
interleukin 33
ISO
RGD
PMID:28128217
RGD:39938965
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:227,721,435...227,736,373
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Il4
interleukin 4
severity
ISO
RGD
PMID:20832364
RGD:5128550
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750
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Il4r
interleukin 4 receptor
ISO
protein:decreased expression:serum
RGD
PMID:21251883
RGD:5128510
NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980
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Il6
interleukin 6
ISO
RGD
PMID:20624776
RGD:4143257
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Il6r
interleukin 6 receptor
ISO
protein:decreased expression:T cell
RGD
PMID:20019339
RGD:5128632
NCBI chr 2:177,582,020...177,646,705
Ensembl chr 2:175,298,686...175,347,536
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Irf1
interferon regulatory factor 1
ISO
RGD
PMID:11083808
RGD:5128719
NCBI chr10:38,417,935...38,424,946
Ensembl chr10:37,916,670...37,924,166
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Itih4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:urine
RGD
PMID:29636444
RGD:40903003
NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
protein:decreased phosphorylation:macrophage, nucleus
RGD
PMID:19737230
RGD:4889999
NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:109,893,145...109,897,656
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Lcn2
lipocalin 2
exacerbates disease_progression
ISO
RGD
PMID:19050270 PMID:30534124
RGD:126779558 , RGD:126779565
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Lta
lymphotoxin alpha
susceptibility
ISO
DNA:polymorphism:intron:252G>A (human)
RGD
PMID:20180006
RGD:4143234
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Marco
macrophage receptor with collagenous structure
susceptibility
ISO
DNA:SNP: :rs12998782(human) DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human) DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human)
RGD
PMID:28693442 PMID:23617307 PMID:27853145
RGD:41412192 , RGD:41412195 , RGD:41412194
NCBI chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521
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Mbl2
mannose binding lectin 2
ISO
DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:19199550
RGD:4889452
NCBI chr 1:237,429,873...237,465,567
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Mif
macrophage migration inhibitory factor
susceptibility
ISO
DNA:SNP: :rs755622 (human)
RGD
PMID:20439102
RGD:4891004
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 Ensembl chr 4:12,790,902...12,799,504
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Mir30a
microRNA 30a
disease_progression
ISO
RGD
PMID:25866116
RGD:35668864
NCBI chr 9:33,233,941...33,234,011
Ensembl chr 9:25,737,600...25,737,670
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Mmp3
matrix metallopeptidase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961
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Mmp7
matrix metallopeptidase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chr 8:13,133,043...13,140,761
Ensembl chr 8:4,848,186...4,855,902
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Mmp8
matrix metallopeptidase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chr 8:4,724,009...4,733,864
Ensembl chr 8:4,724,029...4,733,520
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:16982845
RGD:5130746
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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Nat2
N-acetyltransferase 2
susceptibility
ISO
RGD
PMID:20297661
RGD:4140932
NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520
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Nfkbia
NFKB inhibitor alpha
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:9379002
RGD:126908014
NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941
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Nod2
nucleotide-binding oligomerization domain containing 2
susceptibility
ISO
DNA:SNPs:CDs:p.P268S, R702W, A725G (human)
RGD
PMID:18419343
RGD:5131510
NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177
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Nos2
nitric oxide synthase 2
ISO
DNA:SNPs:multiple (human)
RGD
PMID:19575238
RGD:4144122
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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Pdcd1
programmed cell death 1
treatment
ISO
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793 PMID:23661793
RGD:40818418 , RGD:40818418
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:94,418,791...94,431,937
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Pdcd1lg2
programmed cell death 1 ligand 2
ISO
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793
RGD:40818418
NCBI chr 1:227,158,941...227,223,938
Ensembl chr 1:227,158,941...227,223,938
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Plaur
plasminogen activator, urokinase receptor
severity
ISO
RGD
PMID:18359089
RGD:6483832
NCBI chr 1:89,181,363...89,196,308
Ensembl chr 1:80,050,324...80,068,595
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
ISO
DNA:SNPs:cds:788G>A, 1858C>T (human)
RGD
PMID:19563523
RGD:6484723
NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779
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RT1-Bb
RT1 class II, locus Bb
disease_progression susceptibility
ISO
DNA:polymorphisms (human) DNA:polymorphism:cds:HLA-DQB1*0201(human) DNA:polymorphism: :HLA-DQB1*3:03(human)
RGD
PMID:19230186 PMID:24024195 PMID:28612994
RGD:5147614 , RGD:36049753 , RGD:36049765
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DRB1*0201(human) DNA:polymorphism: :HLA-DRB1*09:01(human)
RGD
PMID:24024195 PMID:28612994
RGD:36049753 , RGD:36049765
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
ISO
RGD
PMID:18652916
RGD:5144001
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Sftpa1
surfactant protein A1
susceptibility
ISO
DNA:SNPs:exons:307G>A, 776C>T (human) DNA:SNP:intron:1416C>T (human)
RGD
PMID:16292672 PMID:12476938
RGD:4144874 , RGD:4144875
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
DNA:polymorphism:intron (human) DNA:deletion:3'UTR:
RGD
PMID:21169917 PMID:24024195
RGD:5684974 , RGD:36049753
NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:75,957,316...75,968,101
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Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
associated with HIV Infections;
RGD
PMID:21843574
RGD:6482248
NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,656,263...4,666,901
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Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:9062973
RGD:5147851
NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407
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Tlr1
toll-like receptor 1
ISO
mRNA:increased expression:blood
RGD
PMID:16493059
RGD:4889525
NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
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Tlr2
toll-like receptor 2
susceptibility
ISO
DNA:polymorphism:intron (human) mRNA, protein:increased expression:blood, T cell DNA:SNP: :rs1816702 (human) DNA:polymorphisms: :multiple (human)
RGD
PMID:20298136 PMID:19552525 PMID:19723394 PMID:20113509
RGD:4145304 , RGD:4145355 , RGD:4145323 , RGD:4145320
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
severity susceptibility
ISO
DNA:polymorphisms:cds: p. D299F, T399I (human) protein:increased expression:monocyte DNA:SNP:intron: rs5030729 (human)
RGD
PMID:20403143 PMID:18008256 PMID:19575238
RGD:4144106 , RGD:4144205 , RGD:4144122
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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Tlr9
toll-like receptor 9
ISO
DNA:snps:multiple (human)
RGD
PMID:19771452
RGD:5130704
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
susceptibility disease_progression
ISO
DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human)
RGD
PMID:20650298 PMID:18212516 PMID:9176116
RGD:4143388 , RGD:4143395 , RGD:4142835
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Trem1
triggering receptor expressed on myeloid cells 1
disease_progression
ISO
RGD
PMID:29844416
RGD:126925977
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNP (human) DNA:SNPs (human) DNA:SNPs:promoter, 3' UTR (human) DNA:SNPs:5' UTR (human)
RGD
PMID:17236578 PMID:15295697 PMID:18231846 PMID:18397302 PMID:20231985
RGD:4889849 , RGD:4889853 , RGD:4889845 , RGD:4889842 , RGD:4889830
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
G
Sting1
stimulator of interferon response cGAMP interactor 1
severity
ISO
RGD
PMID:31141689
RGD:39128194
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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