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: primary bacterial infectious disease
Accession: DOID:0050338
browse the term
Definition: A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread. (DO)
Synonyms: exact_synonym: primary bacterial infectious diseases
alt_id: DOID:13238
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Antxr2
ANTXR cell adhesion molecule 2
IDA
RGD
PMID:17054395
RGD:1599126
NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094
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Elane
elastase, neutrophil expressed
ISO
protein:increased expression:plasma:
RGD
PMID:19049643
RGD:10450550
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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Il1b
interleukin 1 beta
disease_progression
ISO
mRNA:decreased expression:multiple (mouse)
RGD
PMID:19075243
RGD:40902812
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Rnasel
ribonuclease L
severity
ISO
RGD
PMID:19075243
RGD:40902812
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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Tnf
tumor necrosis factor
disease_progression
ISO
protein:decreased expression:multiple (mouse)
RGD
PMID:19075243
RGD:40902812
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Pdcd1
programmed cell death 1
susceptibility
ISO
ClinVar Annotator: match by term: AUTOIMMUNE DISEASE WITH SUSCEPTIBILITY TO MYCOBACTERIUM TUBERCULOSIS
OMIM ClinVar
PMID:34183838
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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C3
complement C3
ISO
protein:increased expression:serum
RGD
PMID:3361150
RGD:11041575
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cfb
complement factor B
ISO
protein:increased expression:serum
RGD
PMID:3361150
RGD:11041575
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:14507644
RGD:5135450
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:14507644
RGD:5135450
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:16923792
RGD:39457937
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Il4
interleukin 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17387165
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Cd163
CD163 molecule
treatment
ISO
RGD
PMID:32069255
RGD:149735531
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Ifng
interferon gamma
treatment
ISO
RGD
PMID:27916101
RGD:14974260
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Npc1
NPC intracellular cholesterol transporter 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12183525
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Pde4a
phosphodiesterase 4A
IEP
mRNA:decreased expression:spleen
RGD
PMID:17397885
RGD:2302429
NCBI chr 8:19,690,816...19,753,538
Ensembl chr 8:19,703,290...19,751,961
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Prdx5
peroxiredoxin 5
ISO
mRNA:increased expression:spleen (mouse)
RGD
PMID:31196623
RGD:41404681
NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29203515 PMID:30894428
RGD:39128199 , RGD:39128234
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
ClinVar Annotator: match by term: Buruli ulcer, susceptibility to | ClinVar Annotator: match by term: SLC11A1-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16395392 PMID:28492532
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Duox2
dual oxidase 2
treatment
ISO
RGD
PMID:29133347
RGD:40925924
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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Mir155
microRNA 155
ISO
miRNA:increased expression:duodenum
RGD
PMID:28319200
RGD:25314323
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Cd209d
CD209d molecule
susceptibility
ISO
DNA:SNPs:promoter: -939G>A,-871A>G (rs735239) (human)
RGD
PMID:24874302
RGD:39938981
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Clec4m
C-type lectin domain family 4 member M
susceptibility
ISO
DNA:repeats:exon 4: allele 6, allele 9 (human)
RGD
PMID:24874302
RGD:39938981
NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
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Ereg
epiregulin
susceptibility
ISO
DNA:SNP:exon 4: (rs2367707) (human)
RGD
PMID:30634928
RGD:39457687
NCBI chr14:17,027,287...17,041,062
Ensembl chr14:17,027,287...17,041,062
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Cxcl10
C-X-C motif chemokine ligand 10
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
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
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271
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Cxcl9
C-X-C motif chemokine ligand 9
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human)
RGD
PMID:29602771
RGD:41404732
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Gpa33
glycoprotein A33
ISO
mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human)
RGD
PMID:29602771
RGD:41404732
NCBI chr13:78,381,141...78,414,765
Ensembl chr13:78,381,141...78,414,765
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human
RGD
PMID:29602771
RGD:41404732
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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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:14623910 PMID:17982089
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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C3
complement C3
severity
ISO
protein:decreased expression:serum
RGD
PMID:6342123
RGD:7411735
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cd163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:22851198 PMID:28355218
RGD:39939078 , RGD:127345133
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cfb
complement factor B
severity
ISO
RGD
PMID:6342123
RGD:7411735
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Il27
interleukin 27
ameliorates
ISO
mRNA:decreased expression:skin of body (human)
RGD
PMID:26030183
RGD:126790539
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:SNP:cds:161G>A (human)
RGD
PMID:20650301
RGD:8694069
NCBI chr 1:228,016,439...228,024,736
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms: :HLA-DQA1*03, HLA-DQA1*05 (human)
RGD
PMID:19698125
RGD:5147788
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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Vdr
vitamin D receptor
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Batf3
basic leucine zipper ATF-like transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25642632
NCBI chr13:102,689,657...102,701,241
Ensembl chr13:102,689,657...102,701,139
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Ccdc122
coiled-coil domain containing 122
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr15:52,407,717...52,470,163
Ensembl chr15:52,407,717...52,470,163
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Ccdc88b
coiled-coil domain containing 88B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25642632
NCBI chr 1:204,036,913...204,052,878
Ensembl chr 1:204,036,918...204,052,970
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Cd8a
CD8 subunit alpha
exacerbates
ISO
mRNA:increased expression:blood (human)
RGD
PMID:31784594
RGD:124715449
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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Il10
interleukin 10
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il17a
interleukin 17A
severity
ISO
mRNA:decreased expression:epidermis (human)
RGD
PMID:22641009
RGD:8698644
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il19
interleukin 19
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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Il23r
interleukin 23 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019778
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Lacc1
laccase domain containing 1
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr15:52,390,267...52,407,630
Ensembl chr15:52,395,183...52,407,545
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Lrrk2
leucine-rich repeat kinase 2
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
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Lta
lymphotoxin alpha
susceptibility
ISO
ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:15052269 PMID:17353895
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Mrc1
mannose receptor, C type 1
ISO
ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy
ClinVar
PMID:20035344
NCBI chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
DNA:polymorphisms: :multiple (human) ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar RGD
PMID:25741868 PMID:20350193
RGD:5508743
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Parl
presenilin associated, rhomboid-like
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
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Pink1
PTEN induced kinase 1
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: LPRS2
ClinVar
PMID:10072423 PMID:11558785 PMID:11889248 PMID:12114481 PMID:12730996 PMID:12764051 PMID:12891670 PMID:14519684 PMID:15390068 PMID:15970950 PMID:16049031 PMID:16714300 PMID:17766365 PMID:19162522 PMID:19636047 PMID:19801972 PMID:20457763 PMID:20558392 PMID:20798600 PMID:22118943 PMID:22555654 PMID:23531835 PMID:24082139 PMID:24647965 PMID:24831986 PMID:25591737 PMID:25741868 PMID:25815004 PMID:25907632 PMID:25939424 PMID:26188007 PMID:26467025 PMID:26683220 PMID:26764160 PMID:26836416 PMID:26855076 PMID:27182553 PMID:27294386 PMID:28492532 PMID:29353703 PMID:30200940 PMID:30537300 PMID:30609409 PMID:30994895 PMID:31409571 PMID:32970363 PMID:33045815 PMID:33497488 PMID:33845304 PMID:35640906 PMID:35747619 PMID:35954270 More...
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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Rab32
RAB32, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019778
NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934
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Ripk2
receptor-interacting serine-threonine kinase 2
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 5:29,630,806...29,662,804
Ensembl chr 5:29,631,570...29,662,657
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphisms (human)
RGD
PMID:20003324 PMID:19698125
RGD:5147585 , RGD:5147788
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms, haplotype (human)
CTD RGD
PMID:16597321 PMID:15755200 PMID:10608779
RGD:5684957 , RGD:5684972
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Tlr1
toll-like receptor 1
susceptibility
ISO
DNA:snp:cds:p.I602S (human) ClinVar Annotator: match by term: LPRS1 | ClinVar Annotator: match by term: TLR1-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 PMID:25741868 PMID:26729809 PMID:28492532 PMID:17548585 More...
RGD:7246917
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:polymorphisms:microsatellite,597C>T(human) ClinVar Annotator: match by term: Leprosy, susceptibility to, 3 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:11476982 PMID:12646604 PMID:15726416 PMID:19111445 PMID:25741868 PMID:28492532 PMID:18177245 More...
RGD:8553055
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr6
toll-like receptor 6
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:−308G>A (human)
RGD
PMID:20650301
RGD:8694069
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfsf15
TNF superfamily member 15
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 5:77,134,885...77,156,171
Ensembl chr 5:77,139,878...77,156,228
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25320285
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Ache
acetylcholinesterase
IEP
RGD
PMID:21921108
RGD:5688128
NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651
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Ada
adenosine deaminase
IEP
RGD
PMID:21320715
RGD:5128858
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Bche
butyrylcholinesterase
IEP
protein:increased expression:serum
RGD
PMID:21921108
RGD:5688128
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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F2
coagulation factor II, thrombin
severity
ISO
protein:increased expression:blood plasma (human)
RGD
PMID:18171258 PMID:20002620
RGD:40818429 , RGD:40819859
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Il1b
interleukin 1 beta
ISO
mRNA, protein:increased expression:kidney (mouse)
RGD
PMID:22323544
RGD:7175257
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Mbl2
mannose binding lectin 2
severity
ISO
protein:increased expression:serum
RGD
PMID:19330263
RGD:6903260
NCBI chr 1:228,016,439...228,024,736
G
Tlr2
toll-like receptor 2
ISO
RGD
PMID:19635914
RGD:7240557
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:19635914 PMID:16428731
RGD:7240557 , RGD:7241090
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Btk
Bruton tyrosine kinase
ameliorates
ISO
RGD
PMID:23544144
RGD:124713555
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cd8a
CD8 subunit alpha
disease_progression exacerbates
ISO
protein:increased expression:liver (mouse) protein:decreased expression:spleen, liver (mouse)
RGD
PMID:20348006 PMID:2120126
RGD:124715456 , RGD:124715458
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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Cebpb
CCAAT/enhancer binding protein beta
severity
ISO
RGD
PMID:17911624
RGD:40903039
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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Cyld
CYLD lysine 63 deubiquitinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23825949
NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
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Il15
interleukin 15
IEP
protein:increased expression:epithelial cell, intestine
RGD
PMID:9826341
RGD:1626618
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Il17d
interleukin 17D
severity
ISO
RGD
PMID:31244826
RGD:40903065
NCBI chr15:31,671,337...31,688,833
G
Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
RGD
PMID:8855299
RGD:11522760
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:19923464 PMID:22966045
RGD:39457955 , RGD:39457958
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Il33
interleukin 33
treatment
ISO
RGD
PMID:25577440
RGD:40400693
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Mir146a
microRNA 146a
ameliorates
ISO
RGD
PMID:29587465 PMID:29728425
RGD:126925140 , RGD:126925176
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Mir21
microRNA 21
exacerbates
ISO
RGD
PMID:28589100
RGD:41404664
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mt1
metallothionein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19576872
NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049 Ensembl chr17:10,826,032...10,827,049 Ensembl chr X:10,826,032...10,827,049
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Mt2A
metallothionein 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19576872
NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
ISO
RGD
PMID:26311905
RGD:40890274
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
ISO
RGD
PMID:30975711
RGD:127229912
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:23378430 PMID:21098106
RGD:39128219 , RGD:39128233
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16751399
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16177108 PMID:21699557
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:synovial fluid
RGD
PMID:23371320
RGD:7488895
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Cxcr2
C-X-C motif chemokine receptor 2
severity
ISO
RGD
PMID:12847259
RGD:7257681
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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Mir146a
microRNA 146a
exacerbates
ISO
RGD
PMID:24967703
RGD:126925141
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
RGD
PMID:21387014
RGD:5508754
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Plaur
plasminogen activator, urokinase receptor
ISO
mRNA:increased expression:skin
RGD
PMID:19461880 PMID:19461880
RGD:6483813 , RGD:6483813
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:serum (human)
RGD
PMID:16358960
RGD:11528571
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Cd40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Il1b
interleukin 1 beta
IDA
RGD
PMID:23134838
RGD:7193053
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Ifna1
interferon, alpha 1
ISO
mRNA:increased expression:PBMC
RGD
PMID:28435890
RGD:36174031
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
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Irak3
interleukin-1 receptor-associated kinase 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:19114913
RGD:36049801
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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Plaur
plasminogen activator, urokinase receptor
ISO
RGD
PMID:20142364
RGD:6484129
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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Serpinf1
serpin family F member 1
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:23992406 PMID:25370187 PMID:23992406
RGD:36174010 , RGD:36174011 , RGD:36174010
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Tlr5
toll-like receptor 5
susceptibility
ISO
mRNA:increased expression:blood, monocyte, granulocyte (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Melioidosis, resistance to
OMIM CTD ClinVar RGD
PMID:14623910 PMID:16027372 PMID:23447684 PMID:17676990
RGD:5129511
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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Trem1
triggering receptor expressed on myeloid cells 1
severity treatment
ISO
RGD
PMID:18008257 PMID:18008257 PMID:18008257
RGD:126928120 , RGD:126928120 , RGD:126928120
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Il4r
interleukin 4 receptor
ISO
protein:decreased expression:serum
RGD
PMID:21251883
RGD:5128510
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Tnf
tumor necrosis factor
ISO
RGD
PMID:10318940
RGD:10449456
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Ggt1
gamma-glutamyltransferase 1
ISO
protein:increased activity:blood:
RGD
PMID:1680936
RGD:14747017
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphism (human)
RGD
PMID:20353806
RGD:5147577
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:insertion/deletion:3' utr (human)
RGD
PMID:11791966
RGD:5684970
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Foxp3
forkhead box P3
ISO
mRNA:increased expression:peripheral blood:
RGD
PMID:25483347
RGD:38456003
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms (human)
RGD
PMID:14522182
RGD:5147828
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphism (human)
RGD
PMID:14522182
RGD:5147828
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
associated with pulmonary diseases; protein:increased expression:serum
RGD
PMID:19641295
RGD:5686838
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Il17a
interleukin 17A
ISO
RGD
PMID:20797909
RGD:4888520
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Tnf
tumor necrosis factor
ISO
associated with HIV Infections
RGD
PMID:7640175
RGD:10450731
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Nefl
neurofilament light chain
disease_progression
ISO
protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Trem2
triggering receptor expressed on myeloid cells 2
disease_progression
ISO
protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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Il10
interleukin 10
ISO
protein:increased expression:aqueous humor
RGD
PMID:22583692
RGD:7364832
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Hp
haptoglobin
ISO
RGD
PMID:21388634
RGD:5144216
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Ggt1
gamma-glutamyltransferase 1
ISO
protein:increased activity:blood:
RGD
PMID:1680936
RGD:14747017
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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Ccr5
C-C motif chemokine receptor 5
resistance
IAGP
DNA:polymorphism:cds:p.H184R (rat)
RGD
PMID:18703167
RGD:4890425
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cxcl1
C-X-C motif chemokine ligand 1
ISO
RGD
PMID:21356370
RGD:5134954
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Fpr1
formyl peptide receptor 1
ISO
ClinVar Annotator: match by term: N-FORMYLPEPTIDE RECEPTOR POLYMORPHISM
ClinVar
PMID:25741868 PMID:28492532 PMID:31534221
NCBI chr 1:58,745,019...58,756,776
Ensembl chr 1:58,747,246...58,756,559
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Il17a
interleukin 17A
IEP
mRNA,protein:increased expression:lymph node
RGD
PMID:20876291
RGD:4781452
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1b
interleukin 1 beta
ISO
RGD
PMID:20565713
RGD:4142820
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Mavs
mitochondrial antiviral signaling protein
susceptibility
ISO
RGD
PMID:25064677
RGD:40903046
NCBI chr 3:118,451,650...118,466,094
Ensembl chr 3:118,451,743...118,466,094
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Ada
adenosine deaminase
ISO
protein:increased activity:pleural fluid: protein:increased activity:serum: protein:increased expression:serum:
RGD
PMID:21860532 PMID:1818842 PMID:1689629 PMID:18357489
RGD:152995280 , RGD:152998934 , RGD:152995292 , RGD:152995288
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Ccl22
C-C motif chemokine ligand 22
ISO
RGD
PMID:20337996
RGD:4891473
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:19159432
RGD:4145106
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr5
C-C motif chemokine receptor 5
ISO
protein:increased expression:pleural fluid, natural killer cell (human)
RGD
PMID:19159432
RGD:4145106
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Foxp3
forkhead box P3
disease_progression
ISO
associated with human immunodeficiency virus infectious disease;
RGD
PMID:21303360
RGD:36947878
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Il1b
interleukin 1 beta
ISO
DNA:polymorphism: :3953T>C (human)
RGD
PMID:10377182
RGD:4143226
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
ISO
DNA:repeat (human)
RGD
PMID:10377182
RGD:4143226
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il27
interleukin 27
exacerbates
ISO
associated with Pleural Effusion;protein:increased expression:pleural fluid (human) protein:increased expression:alveolar system (human)
RGD
PMID:25753767 PMID:31819557 PMID:23962500 PMID:28844060
RGD:126790505 , RGD:126790549 , RGD:126790523 , RGD:126790517
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Il33
interleukin 33
ISO
protein:increased expression:pleural fluid:
RGD
PMID:23301222
RGD:39939042
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:pleura:
RGD
PMID:18715875
RGD:5129700
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:18295348
RGD:4144193
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnc
tenascin C
ISO
protein:increased expression:pleura
RGD
PMID:10950882
RGD:4889594
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:20385761
RGD:39938865
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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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 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
G
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 3:152,398,745...152,422,854
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 chr11:77,721,912...77,735,644
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 6:131,713,716...131,735,319
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 4:149,531,329...149,578,696
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 7:95,786,130...96,093,111
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 chr13:102,751,278...102,800,520
Ensembl chr13:102,751,321...102,764,631
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C3
complement C3
ISO
RGD
PMID:19472039
RGD:5129500
NCBI chr 9:2,087,437...2,114,366
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 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO
DNA:polymorphism: :-2518A>G (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16352737 PMID:18940815 PMID:20111728
RGD:4891439
NCBI chr10:67,005,424...67,007,222
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 chr10:68,322,826...68,327,380
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 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
G
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 chr18:28,335,522...28,337,383
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 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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Cd209d
CD209d molecule
susceptibility
ISO
CTD Direct Evidence: marker/mechanism associated with HIV Seropositivity; DNA:SNP:promoter: -336A>G (rs4804803) (human) DNA:SNPs:promoter:-139G>A, -336A>G, -871A>G (rs2287886,rs4804803,rs735239) (human)
CTD RGD
PMID:16379498 PMID:19126442 PMID:24874302
RGD:39939062 , RGD:39938981
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 1:227,116,674...227,137,379
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 chr11:64,142,193...64,200,816
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:24874302 PMID:17224292
RGD:39938983 , RGD:39938981 , RGD:39938987
NCBI chr12:1,915,902...1,924,529
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 chr13:85,135,384...85,175,178
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 chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Cxcl6
C-X-C motif chemokine ligand 6
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 7:63,115,645...63,121,203
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 chr14:91,176,979...91,349,722
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 chr14:17,027,287...17,041,062
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:14,908,494...14,924,994
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 chr10:37,790,130...37,792,687
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 chr19:25,640,025...25,706,818
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 8:50,904,630...50,932,887
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 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
severity susceptibility
ISO
protein:increased expression:lung DNA:polymorphism: :3953T>C (human) protein:increased expression:bronchioalveolar lavage fluid (human)
RGD
PMID:10543265 PMID:16634865 PMID:10631206
RGD:4143180 , RGD:5147843 , RGD:4143179
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
ISO
RGD
PMID:28128217
RGD:39938965
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
severity
ISO
protein:increased expression:lung, serum
RGD
PMID:10543265 PMID:14619382 PMID:10631206
RGD:4143180 , RGD:4143174 , RGD:4143179
NCBI chr 3:7,111,567...7,127,451
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:21156751 PMID:20624887 PMID:11801672
RGD:39457949 , RGD:39458038 , RGD:39458036 , RGD:39457953
NCBI chr 7:721,809...723,923
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 1:181,173,108...181,178,720
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 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Il4
interleukin 4
severity
ISO
RGD
PMID:20832364
RGD:5128550
NCBI chr10:37,771,203...37,776,750
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 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il6
interleukin 6
ISO
RGD
PMID:20624776
RGD:4143257
NCBI chr 4:5,214,602...5,219,178
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 2:175,289,157...175,347,719
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 chr10:37,917,155...37,924,166
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 5:109,894,175...109,897,268
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 1:228,016,439...228,024,736
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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 9:25,737,600...25,737,670
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 8:4,640,397...4,653,963
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 8:4,848,186...4,855,908
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 3:153,684,158...153,692,118
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 chr16:22,207,362...22,238,513
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 6:72,858,713...72,861,941
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 chr19:18,382,369...18,422,817
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 chr10:63,815,308...63,851,208
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 9:94,418,786...94,431,945
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 1:80,053,440...80,068,384
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 2:191,366,761...191,414,782
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: :HLA-DQB1*3:03(human) DNA:polymorphism:cds:HLA-DQB1*0201(human)
RGD
PMID:19230186 PMID:28612994 PMID:24024195
RGD:5147614 , RGD:36049765 , RGD:36049753
NCBI chr20:4,596,558...4,602,201
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 chr20:4,548,664...4,558,237
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 9:75,957,193...75,968,115
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 chr20:4,656,262...4,666,634
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 chr20:4,636,347...4,650,387
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) DNA:polymorphisms: :multiple (human) DNA:SNP: :rs1816702 (human) mRNA, protein:increased expression:blood, T cell
RGD
PMID:20298136 PMID:20113509 PMID:19723394 PMID:19552525
RGD:4145304 , RGD:4145320 , RGD:4145323 , RGD:4145355
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
severity susceptibility
ISO
DNA:polymorphisms:cds: p. D299F, T399I (human) DNA:SNP:intron: rs5030729 (human) protein:increased expression:monocyte
RGD
PMID:20403143 PMID:19575238 PMID:18008256
RGD:4144106 , RGD:4144122 , RGD:4144205
NCBI chr 5:80,145,867...80,159,501
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 8:106,864,680...106,868,796
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:9176116 PMID:18212516
RGD:4143388 , RGD:4142835 , RGD:4143395
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
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:5' UTR (human) DNA:SNPs:promoter, 3' UTR (human) DNA:SNPs (human)
RGD
PMID:17236578 PMID:20231985 PMID:18397302 PMID:18231846 PMID:15295697
RGD:4889849 , RGD:4889830 , RGD:4889842 , RGD:4889845 , RGD:4889853
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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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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Dhcr24
24-dehydrocholesterol reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137
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Flot1
flotillin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr20:2,917,864...2,927,993
Ensembl chr20:2,917,137...2,927,978
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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Ldlr
low density lipoprotein receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Lss
lanosterol synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
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Il4r
interleukin 4 receptor
ISO
protein:decreased expression:serum DNA:polymorphism:cds:p.I50V (human)
RGD
PMID:21251883 PMID:19548368
RGD:5128510 , RGD:7207069
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:17321882
RGD:8547664
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:17321882
RGD:8547664
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Adar
adenosine deaminase, RNA-specific
ISO
mRNA:splice variant:liver (mouse)
RGD
PMID:12228285
RGD:125097511
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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Ahr
aryl hydrocarbon receptor
severity
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Aicda
activation-induced cytidine deaminase
severity
ISO
RGD
PMID:29743315
RGD:127285640
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Ank1
ankyrin 1
ISO
RGD
PMID:23390527
RGD:11041609
NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759
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Hamp
hepcidin antimicrobial peptide
ISO
RGD
PMID:23390527
RGD:11041609
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Ido1
indoleamine 2,3-dioxygenase 1
susceptibility
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16002714
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Slc11a1
solute carrier family 11 member 1
ISO
RGD
PMID:14734525
RGD:5684962
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Tlr5
toll-like receptor 5
IEP
mRNA, protein:increased expression:jejunum, colon (rat)
RGD
PMID:20529359
RGD:5129497
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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Coq7
coenzyme Q7, hydroxylase
susceptibility
ISO
RGD
PMID:23166727
RGD:10402105
NCBI chr 1:172,836,359...172,851,173
Ensembl chr 1:172,835,188...172,851,158
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Il12b
interleukin 12B
susceptibility
ISO
disseminated BCG and Salmonella enteritidis infection, OMIM:209950
RGD
PMID:9854038
RGD:1600042
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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Egf
epidermal growth factor
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Il10
interleukin 10
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il12b
interleukin 12B
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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Il1b
interleukin 1 beta
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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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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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:missense mutation:CDS:c.592C>G (p.Q198E) (human)
RGD
PMID:29795056
RGD:126928140
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:18008231
RGD:8551830
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Foxp3
forkhead box P3
treatment
ISO
RGD
PMID:27284313
RGD:38456006
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Nefl
neurofilament light chain
ISO
associated with age;protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Trem2
triggering receptor expressed on myeloid cells 2
ISO
associated with age;protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:9062973
RGD:5147851
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Vdr
vitamin D receptor
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Adam17
ADAM metallopeptidase domain 17
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar
PMID:25741868
NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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Ager
advanced glycosylation end product-specific receptor
severity
ISO
RGD
PMID:22698798
RGD:6767307
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Btnl2
butyrophilin-like 2
susceptibility no_association
ISO
DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human)
RGD
PMID:20176143 PMID:17347014
RGD:9685035 , RGD:9685036
NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341
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Cbs
cystathionine beta synthase
severity
ISO
protein:increased expression:macrophages (mouse)
RGD
PMID:31992699 PMID:31992699
RGD:40903052 , RGD:40903052
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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Ccl1
C-C motif chemokine ligand 1
susceptibility
ISO
DNA:SNP: :rs159294, rs210837, rs10491110 (human)
RGD
PMID:19057661
RGD:4891408
NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
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Ccl2
C-C motif chemokine ligand 2
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar
PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815
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
severity
HEP
associated with human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human)
RGD
PMID:31276515
RGD:41404639
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Cd209c
CD209c molecule
ISO
RGD
PMID:21454357 PMID:18167547
RGD:5131181 , RGD:5131186
NCBI chr12:1,936,233...1,943,841
Ensembl chr12:1,936,396...1,942,040
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Cd209d
CD209d molecule
susceptibility
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar OMIM
PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cd274
CD274 molecule
ISO
mRNA, protein:increased expression:blood, neutrophil
RGD
PMID:21509782
RGD:41412173
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Cd86
CD86 molecule
ISO
protein:increased expression:lung (mouse)
RGD
PMID:18292558
RGD:4892329
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cd8a
CD8 subunit alpha
susceptibility
ISO
associated with human immunodeficiency virus infectious disease;mRNA:increased expression:whole blood (human) mRNA:decreased expression:blood (human)
RGD
PMID:26725873 PMID:27553407
RGD:124715445 RGD:124715450
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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Cebpb
CCAAT/enhancer binding protein beta
ISO
mRNA:increased expression:lung, spleen (mouse)
RGD
PMID:28558034
RGD:40903038
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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Ciita
class II, major histocompatibility complex, transactivator
susceptibility
ISO
knockouts show increased susceptibility to infection by all available criteria including mycobacterial growth, lung damage and survival time (mouse)
RGD
PMID:12828554
RGD:5491205
NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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Cish
cytokine inducible SH2-containing protein
susceptibility
ISO
ClinVar Annotator: match by term: Tuberculosis, susceptibility to
ClinVar OMIM
PMID:20484391
NCBI chr 8:107,972,306...107,977,254
Ensembl chr 8:107,972,306...107,977,250
G
Coro1a
coronin 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16040207
NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:serum
RGD
PMID:19281538
RGD:5135308
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Cyp2b3
cytochrome P450, family 2, subfamily b, polypeptide 3
treatment
ISO
DNA:SNPs: :c.516G>T (rs3745274) and c.785A>G (rs2279343)(human) associated with human immunodeficiency virus infectious disease; ;DNA:SNP: :516G>T (rs3745274)(human)
RGD
PMID:28389387 PMID:30239753
RGD:41410886 , RGD:41412160
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment
ISO
DNA:polymorphisms:: CYP2C19*17(rs12248560),CYP2C19*2 (c.681C>A; rs4244285)(human)
RGD
PMID:27393733
RGD:124713542
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Ereg
epiregulin
susceptibility
ISO
DNA:SNP:intron: (rs7675690) (human)
RGD
PMID:22170233
RGD:39457686
NCBI chr14:17,027,287...17,041,062
Ensembl chr14:17,027,287...17,041,062
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Has1
hyaluronan synthase 1
ISO
RGD
PMID:19876387
RGD:9588638
NCBI chr 1:58,693,411...58,705,653
Ensembl chr 1:58,693,411...58,705,397
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Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Ifng
interferon gamma
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against
ClinVar OMIM
PMID:10663562 PMID:11053629 PMID:12788577 PMID:18414898
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Ifngr1
interferon gamma receptor 1
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
OMIM ClinVar RGD
PMID:9389728 PMID:10192386 PMID:11583830 PMID:12516030 PMID:16195661 PMID:16690980 PMID:18171304 PMID:19488747 PMID:20015550 PMID:21266457 PMID:25741868 PMID:28492532 PMID:28902581 PMID:19575238 More...
RGD:4144122
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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Il12rb1
interleukin 12 receptor subunit beta 1
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar
PMID:9603733 PMID:12591909 PMID:28492532
NCBI chr16:18,620,228...18,633,207
Ensembl chr16:18,620,770...18,632,769
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Il15
interleukin 15
ISO
mRNA:altered expression:lung, spleen
RGD
PMID:16367949
RGD:4987456
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Il22
interleukin 22
ISO
RGD
PMID:21767990
RGD:5147402
NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186
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Il27
interleukin 27
exacerbates
ISO
associated with Pleural Effusion;protein:increased expression:pleural effusion (human) mRNA:increased expression:blood (human)
RGD
PMID:26282876 PMID:25511588
RGD:11086047 , RGD:126790514
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Il33
interleukin 33
ISO
associated with Pleural Effusion;protein:increased expression:pleural biopsy
RGD
PMID:25755791
RGD:40400701
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Irak3
interleukin-1 receptor-associated kinase 3
ISO
mRNA, protein:increased expression:sputum (human)
RGD
PMID:19535630
RGD:36049800
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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Irgm
immunity-related GTPase M
ISO
OMIM
NCBI chr10:33,233,513...33,241,594
Ensembl chr10:33,233,455...33,241,578
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Kir3dl1
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
susceptibility
ISO
DNA:deletion:cds
RGD
PMID:23073291
RGD:38676470
NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050
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Klrk1
killer cell lectin like receptor K1
treatment
ISO
RGD
PMID:16619285 PMID:23922903
RGD:39018558 , RGD:39128143
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Mapkapk3
MAPK activated protein kinase 3
ISO
ClinVar Annotator: match by term: Tuberculosis, susceptibility to
ClinVar
PMID:20484391
NCBI chr 8:107,929,754...107,963,638
Ensembl chr 8:107,929,762...107,963,568
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
ISO
DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human)
RGD
PMID:31586142
RGD:42722614
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nrg1
neuregulin 1
susceptibility
ISO
DNA:SNP, haplotype: (rs16879814)
RGD
PMID:25919455
RGD:39456091
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:27865385
RGD:41412174
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
RGD
PMID:30514491
RGD:38599199
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
ISO
RGD
PMID:29892302
RGD:127229926
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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RT1-Ba
RT1 class II, locus Ba
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26829749
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-DQB1*05
RGD
PMID:19030725
RGD:36049809
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-CE15
RT1 class I, locus CE15
susceptibility
ISO
associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-A31
RGD
PMID:19030725
RGD:36049809
NCBI chr20:3,275,575...3,279,074
Ensembl chr20:3,264,172...3,279,563 Ensembl chr20:3,264,172...3,279,563
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RT1-CE16
RT1 class I, locus CE16
susceptibility
ISO
associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-A31
RGD
PMID:19030725
RGD:36049809
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism (human) associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-BRB1*10
RGD
PMID:21251479 PMID:19030725 PMID:17153701
RGD:5147605 , RGD:36049809 , RGD:5147633
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
DNA:insertion, polymorphism:3' utr:p.D543N (human) ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:16103355 PMID:16597321 PMID:25741868 PMID:19863441 PMID:15118671
RGD:5684931 , RGD:1331525
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Sp110
SP110 nuclear body protein
susceptibility
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar OMIM
PMID:16803959 PMID:16816019 PMID:17149599 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 9:86,200,503...86,225,355
Ensembl chr 9:86,200,503...86,222,670
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Sp140
SP140 nuclear body protein
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar
PMID:16803959 PMID:16816019 PMID:17149599 PMID:25741868 PMID:28492532
NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:15863395
RGD:1581371
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29791904
RGD:39128196
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
G
Tirap
TIR domain containing adaptor protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
CTD OMIM ClinVar
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868
NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432
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Tlr1
toll-like receptor 1
susceptibility
ISO
DNA:snps, haplotype:cds:p.N248S, p.S602I (human)
RGD
PMID:18091991
RGD:7246918
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
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
OMIM ClinVar
PMID:14979495 PMID:16081826 PMID:22992740 PMID:25741868 PMID:28492532
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:12218133
RGD:4144821
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr6
toll-like receptor 6
susceptibility
ISO
DNA:missense mutations:cds:multiple (human)
RGD
PMID:18091991
RGD:7246918
NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:20537163
RGD:4143229
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
DNA:snp:3' utr:g.*215C>T rs3397 (human)
RGD
PMID:20007930
RGD:5131209
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30202016
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Vdr
vitamin D receptor
susceptibility
ISO
associated with HIV Infections;DNA:SNPs:3' UTR (human)
RGD
PMID:18712587
RGD:4889839
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Cd86
CD86 molecule
ISO
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:16272336
RGD:4892560
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cxcl2
C-X-C motif chemokine ligand 2
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:21277990
RGD:5135025
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Ifng
interferon gamma
ISO
protein:increased expression:serum
RGD
PMID:26853540
RGD:14974256
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il17a
interleukin 17A
ISO
RGD
PMID:20585449
RGD:4888521
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:25296161
RGD:39458039
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
G
Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:17202364
RGD:5130727
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Cftr
CF transmembrane conductance regulator
susceptibility
ISO
DNA:repeats: :CA repeats(human)
RGD
PMID:16078047
RGD:35673348
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
G
Lta
lymphotoxin alpha
susceptibility
ISO
DNA:SNP::
RGD
PMID:11120931
RGD:36049756
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms::
RGD
PMID:11120931
RGD:36049756
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :HLA-DRB1*04:05, rs7765379(human) DNA:polymorphisms::
CTD RGD
PMID:25383971 PMID:25383971 PMID:11120931
RGD:36174025 , RGD:36049756
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Tlr2
toll-like receptor 2
ISO
RGD
PMID:25667264
RGD:11061268
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:-308G>A (rs1800629) (human)
RGD
PMID:11120931
RGD:36049756
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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