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
anthrax toxin receptor 2
ISO
RGD
PMID:17054395
RGD:1599126
NCBI chr 5:98,032,547...98,178,876
Ensembl chr 5:98,030,642...98,178,902
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Elane
elastase, neutrophil expressed
IEP
protein:increased expression:plasma:
RGD
PMID:19049643
RGD:10450550
NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049
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Il1b
interleukin 1 beta
disease_progression
IEP
mRNA:decreased expression:multiple (mouse)
RGD
PMID:19075243
RGD:40902812
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Rnasel
ribonuclease L (2', 5'-oligoisoadenylate synthetase-dependent)
severity
IMP
RGD
PMID:19075243
RGD:40902812
NCBI chr 1:153,625,089...153,644,441
Ensembl chr 1:153,625,172...153,639,967
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Tnf
tumor necrosis factor
disease_progression
IEP
protein:decreased expression:multiple (mouse)
RGD
PMID:19075243
RGD:40902812
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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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 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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C3
complement component 3
ISO
protein:increased expression:serum
RGD
PMID:3361150
RGD:11041575
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Cfb
complement factor B
ISO
protein:increased expression:serum
RGD
PMID:3361150
RGD:11041575
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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Cxcl10
C-X-C motif chemokine ligand 10
IEP
RGD
PMID:14507644
RGD:5135450
NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748
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Cxcl9
C-X-C motif chemokine ligand 9
IEP
RGD
PMID:14507644
RGD:5135450
NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938
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Il23a
interleukin 23, alpha subunit p19
IMP
RGD
PMID:16923792
RGD:39457937
NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621
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Il4
interleukin 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17387165
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Cd163
CD163 antigen
treatment
ISO
RGD
PMID:32069255
RGD:149735531
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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Cxcl15
C-X-C motif chemokine ligand 15
susceptibility
ISO
DNA:SNP:promoter:g.-251A>T (human)
RGD
PMID:24076593
RGD:150523788
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Ifng
interferon gamma
treatment
ISO
RGD
PMID:27916101
RGD:14974260
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Npc1
NPC intracellular cholesterol transporter 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12183525
NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457
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Pde4a
phosphodiesterase 4A, cAMP specific
ISO
mRNA:decreased expression:spleen
RGD
PMID:17397885
RGD:2302429
NCBI chr 9:21,076,998...21,124,544
Ensembl chr 9:21,073,005...21,124,544
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Prdx5
peroxiredoxin 5
IEP
mRNA:increased expression:spleen (mouse)
RGD
PMID:31196623
RGD:41404681
NCBI chr19:6,884,065...6,887,474
Ensembl chr19:6,884,065...6,887,474
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Sting1
stimulator of interferon response cGAMP interactor 1
IMP
RGD
PMID:29203515 PMID:30894428
RGD:39128199 , RGD:39128234
NCBI chr18:35,866,731...35,873,607
Ensembl chr18:35,866,732...35,873,607
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Slc11a1
solute carrier family 11 (proton-coupled divalent metal ion transporters), 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 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
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Duox2
dual oxidase 2
treatment
ISO
RGD
PMID:29133347
RGD:40925924
NCBI chr 2:122,109,727...122,129,221
Ensembl chr 2:122,109,728...122,128,930
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Mir155
microRNA 155
ISO
miRNA:increased expression:duodenum
RGD
PMID:28319200
RGD:25314323
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
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Cd209b
CD209b antigen
susceptibility
ISO
DNA:repeats:exon 4: allele 6, allele 9 (human)
RGD
PMID:24874302
RGD:39938981
NCBI chr 8:3,967,655...3,976,841
Ensembl chr 8:3,967,655...3,976,844
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Cxcl15
C-X-C motif chemokine ligand 15
ISO
protein:increased expression:serum (human)
RGD
PMID:16001981
RGD:39939055
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Ereg
epiregulin
susceptibility
ISO
DNA:SNP:exon 4: (rs2367707) (human)
RGD
PMID:30634928
RGD:39457687
NCBI chr 5:91,222,476...91,241,508
Ensembl chr 5:91,222,481...91,241,505
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Cxcl10
C-X-C motif chemokine ligand 10
disease_progression
IMP
RGD
PMID:21124994
RGD:5135283
NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748
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Cxcl11
chemokine (C-X-C motif) ligand 11
disease_progression
IMP
RGD
PMID:21124994
RGD:5135283
NCBI chr 5:92,507,403...92,511,155
Ensembl chr 5:92,507,403...92,513,344
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Cxcl9
C-X-C motif chemokine ligand 9
disease_progression
IMP
RGD
PMID:21124994
RGD:5135283
NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938
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Abcb1a
ATP-binding cassette, sub-family 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 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
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Gpa33
glycoprotein A33 transmembrane
ISO
mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human)
RGD
PMID:29602771
RGD:41404732
NCBI chr 1:165,957,790...165,994,079
Ensembl chr 1:165,957,807...165,994,079
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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 chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
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Ada
adenosine deaminase
ISO
protein:increased expression:serum
RGD
PMID:9255891
RGD:5128857
NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159
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Cx3cl1
C-X3-C motif chemokine ligand 1
IMP
RGD
PMID:16113250
RGD:4891897
NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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Cxcl1
C-X-C motif chemokine ligand 1
IEP
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
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Cxcl2
C-X-C motif chemokine ligand 2
IEP
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797
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Cxcl5
C-X-C motif chemokine ligand 5
IEP
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr 5:90,907,157...90,909,484
Ensembl chr 5:90,907,219...90,909,483
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Cxcr2
C-X-C motif chemokine receptor 2
IMP
RGD
PMID:11254553
RGD:5135252
NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405
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Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11349020
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Il18
interleukin 18
IDA
RGD
PMID:11083766
RGD:4889865
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Mbl2
mannose-binding lectin (protein C) 2
susceptibility
ISO
RGD
PMID:19073229
RGD:12910934
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Nod1
nucleotide-binding oligomerization domain containing 1
IMP
RGD
PMID:20685341
RGD:5131443
NCBI chr 6:54,900,927...54,949,655
Ensembl chr 6:54,900,934...54,949,597
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Nod2
nucleotide-binding oligomerization domain containing 2
IMP
RGD
PMID:20685341
RGD:5131443
NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
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Tlr5
toll-like receptor 5
ISO IMP
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 chr 1:182,782,317...182,804,010
Ensembl chr 1:182,782,353...182,804,010
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Tlr9
toll-like receptor 9
IMP
RGD
PMID:18426877
RGD:5130707
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
IMP
RGD
PMID:18838275
RGD:5131445
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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Tnfrsf1b
tumor necrosis factor receptor superfamily, member 1b
IMP
RGD
PMID:18838275
RGD:5131445
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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C3
complement component 3
severity
ISO
protein:decreased expression:serum
RGD
PMID:6342123
RGD:7411735
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Cd163
CD163 antigen
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:22851198 PMID:28355218
RGD:39939078 , RGD:127345133
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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Cfb
complement factor B
severity
ISO
RGD
PMID:6342123
RGD:7411735
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
DNA:polymorphisms: :HLA-DQA1*03, HLA-DQA1*05 (human)
RGD
PMID:19698125
RGD:5147788
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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Il27
interleukin 27
ameliorates
ISO
mRNA:decreased expression:skin of body (human)
RGD
PMID:26030183
RGD:126790539
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Mbl2
mannose-binding lectin (protein C) 2
susceptibility
ISO
DNA:SNP:cds:161G>A (human)
RGD
PMID:20650301
RGD:8694069
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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Batf3
basic leucine zipper transcription factor, ATF-like 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25642632
NCBI chr 1:190,830,611...190,841,140
Ensembl chr 1:190,830,044...190,841,142
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Ccdc122
coiled-coil domain containing 122
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr14:77,274,212...77,349,703
Ensembl chr14:77,274,212...77,349,697
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Ccdc88b
coiled-coil domain containing 88B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25642632
NCBI chr19:6,821,991...6,835,586
Ensembl chr19:6,821,991...6,835,579
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Cd8a
CD8 subunit alpha
exacerbates
ISO
mRNA:increased expression:blood (human)
RGD
PMID:31784594
RGD:124715449
NCBI chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157
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Cxcl15
C-X-C motif chemokine ligand 15
severity
ISO
DNA:SNP:promoter:g.-353T>A (rs4073) (human)
RGD
PMID:30303246
RGD:40400755
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
DNA:polymorphisms (human)
RGD
PMID:20003324 PMID:19698125
RGD:5147585 , RGD:5147788
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Il10
interleukin 10
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il17a
interleukin 17A
severity
ISO
mRNA:decreased expression:epidermis (human)
RGD
PMID:22641009
RGD:8698644
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il19
interleukin 19
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr 1:130,860,393...130,873,194
Ensembl chr 1:130,860,393...130,867,852
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Il23r
interleukin 23 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019778
NCBI chr 6:67,399,906...67,468,838
Ensembl chr 6:67,399,916...67,468,839
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Lacc1
laccase domain containing 1
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr14:77,261,640...77,274,344
Ensembl chr14:77,261,640...77,274,344
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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 chr15:91,556,994...91,700,327
Ensembl chr15:91,557,378...91,700,323
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Lta
lymphotoxin A
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 chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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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 chr 2:14,234,225...14,336,834
Ensembl chr 2:14,234,203...14,336,868
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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 chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
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Parl
presenilin associated, rhomboid-like
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr16:20,098,570...20,121,090
Ensembl chr16:20,098,568...20,121,137
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Pink1
PTEN induced putative kinase 1
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 4:138,040,718...138,053,631
Ensembl chr 4:138,040,720...138,053,618
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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 PMID:39825153 More...
NCBI chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248
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Rab32
RAB32, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019778
NCBI chr10:10,420,783...10,433,951
Ensembl chr10:10,420,746...10,434,009
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Ripk2
receptor (TNFRSF)-interacting serine-threonine kinase 2
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 4:16,122,740...16,163,674
Ensembl chr 4:16,122,733...16,163,647
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Slc11a1
solute carrier family 11 (proton-coupled divalent metal ion transporters), 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 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
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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 chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906
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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 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr6
toll-like receptor 6
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 5:65,109,373...65,128,387
Ensembl chr 5:65,109,374...65,117,440
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:−308G>A (human)
RGD
PMID:20650301
RGD:8694069
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfsf15
tumor necrosis factor (ligand) superfamily, member 15
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 4:63,642,837...63,663,296
Ensembl chr 4:63,642,840...63,663,350
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Tnfsf8
tumor necrosis factor (ligand) superfamily, member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25320285
NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
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Ache
acetylcholinesterase
ISO
RGD
PMID:21921108
RGD:5688128
NCBI chr 5:137,286,516...137,292,728
Ensembl chr 5:137,285,781...137,292,728
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Ada
adenosine deaminase
ISO
RGD
PMID:21320715
RGD:5128858
NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159
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Bche
butyrylcholinesterase
ISO
protein:increased expression:serum
RGD
PMID:21921108
RGD:5688128
NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
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F2
coagulation factor II
severity
ISO
protein:increased expression:blood plasma (human)
RGD
PMID:18171258 PMID:20002620
RGD:40818429 , RGD:40819859
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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Il1b
interleukin 1 beta
IEP
mRNA, protein:increased expression:kidney (mouse)
RGD
PMID:22323544
RGD:7175257
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Mbl2
mannose-binding lectin (protein C) 2
severity
ISO
protein:increased expression:serum
RGD
PMID:19330263
RGD:6903260
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Tlr2
toll-like receptor 2
IMP
RGD
PMID:19635914
RGD:7240557
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
IMP
RGD
PMID:19635914 PMID:16428731
RGD:7240557 , RGD:7241090
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Btk
Bruton agammaglobulinemia tyrosine kinase
ameliorates
IMP
RGD
PMID:23544144
RGD:124713555
NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319
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Cd8a
CD8 subunit alpha
disease_progression exacerbates
IEP IMP
protein:increased expression:liver (mouse) protein:decreased expression:spleen, liver (mouse)
RGD
PMID:20348006 PMID:2120126
RGD:124715456 , RGD:124715458
NCBI chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157
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Cebpb
CCAAT/enhancer binding protein beta
severity
IMP
RGD
PMID:17911624
RGD:40903039
NCBI chr 2:167,530,835...167,532,352
Ensembl chr 2:167,530,835...167,532,338
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Cyld
CYLD lysine 63 deubiquitinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23825949
NCBI chr 8:89,423,506...89,478,574
Ensembl chr 8:89,423,675...89,478,573
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Il15
interleukin 15
ISO
protein:increased expression:epithelial cell, intestine
RGD
PMID:9826341
RGD:1626618
NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
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Il17d
interleukin 17D
severity
IMP
RGD
PMID:31244826
RGD:40903065
NCBI chr14:57,762,197...57,780,623
Ensembl chr14:57,762,234...57,780,623
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Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
RGD
PMID:8855299
RGD:11522760
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il23a
interleukin 23, alpha subunit p19
IMP
RGD
PMID:19923464 PMID:22966045
RGD:39457955 , RGD:39457958
NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621
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Il33
interleukin 33
treatment
IEP
RGD
PMID:25577440
RGD:40400693
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Mir146
microRNA 146
ameliorates
IMP
RGD
PMID:29587465 PMID:29728425
RGD:126925140 , RGD:126925176
NCBI chr11:43,265,224...43,265,288
Ensembl chr11:43,265,224...43,265,288
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Mir21a
microRNA 21a
exacerbates
IMP
RGD
PMID:28589100
RGD:41404664
NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
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Mt1
metallothionein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19576872
NCBI chr 8:94,905,214...94,906,955
Ensembl chr 8:94,905,710...94,906,955
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Mt2
metallothionein 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19576872
NCBI chr 8:94,899,246...94,900,195
Ensembl chr 8:94,899,292...94,900,196
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
IMP
RGD
PMID:26311905
RGD:40890274
NCBI chr 4:149,733,625...149,787,023
Ensembl chr 4:149,733,625...149,787,028
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Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
IMP
RGD
PMID:30975711
RGD:127229912
NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322
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Sting1
stimulator of interferon response cGAMP interactor 1
IMP
RGD
PMID:23378430 PMID:21098106
RGD:39128219 , RGD:39128233
NCBI chr18:35,866,731...35,873,607
Ensembl chr18:35,866,732...35,873,607
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16751399
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfsf8
tumor necrosis factor (ligand) superfamily, member 8
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16177108 PMID:21699557
NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:synovial fluid
RGD
PMID:23371320
RGD:7488895
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Cxcr2
C-X-C motif chemokine receptor 2
severity
IMP
RGD
PMID:12847259
RGD:7257681
NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405
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Mir146
microRNA 146
exacerbates
IMP
RGD
PMID:24967703
RGD:126925141
NCBI chr11:43,265,224...43,265,288
Ensembl chr11:43,265,224...43,265,288
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Nod2
nucleotide-binding oligomerization domain containing 2
IMP
RGD
PMID:21387014
RGD:5508754
NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
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Plaur
plasminogen activator, urokinase receptor
IMP ISO
mRNA:increased expression:skin
RGD
PMID:19461880 PMID:19461880
RGD:6483813 , RGD:6483813
NCBI chr 7:24,161,857...24,175,393
Ensembl chr 7:24,161,909...24,175,393
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:serum (human)
RGD
PMID:16358960
RGD:11528571
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Cd40
CD40 antigen
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd40lg
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cxcl15
C-X-C motif chemokine ligand 15
treatment
ISO
RGD
PMID:24239846
RGD:39939054
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Il1b
interleukin 1 beta
ISO
RGD
PMID:23134838
RGD:7193053
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Ifna1
interferon alpha 1
ISO
mRNA:increased expression:PBMC
RGD
PMID:28435890
RGD:36174031
NCBI chr 4:88,768,324...88,768,893
Ensembl chr 4:88,768,324...88,768,893
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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 chr10:119,977,553...120,038,035
Ensembl chr10:119,977,553...120,038,035
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Plaur
plasminogen activator, urokinase receptor
IMP
RGD
PMID:20142364
RGD:6484129
NCBI chr 7:24,161,857...24,175,393
Ensembl chr 7:24,161,909...24,175,393
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Serpinf1
serine (or cysteine) peptidase inhibitor, clade F, member 1
severity
ISO IMP
protein:increased expression:plasma (human)
RGD
PMID:23992406 PMID:25370187 PMID:23992406
RGD:36174010 , RGD:36174011 , RGD:36174010
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
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Tlr5
toll-like receptor 5
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 chr 1:182,782,317...182,804,010
Ensembl chr 1:182,782,353...182,804,010
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Trem1
triggering receptor expressed on myeloid cells 1
severity treatment
ISO IDA IEP
RGD
PMID:18008257 PMID:18008257 PMID:18008257
RGD:126928120 , RGD:126928120 , RGD:126928120
NCBI chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952
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Il4ra
interleukin 4 receptor, alpha
ISO
protein:decreased expression:serum
RGD
PMID:21251883
RGD:5128510
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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Tnf
tumor necrosis factor
IMP
RGD
PMID:10318940
RGD:10449456
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Ggt1
gamma-glutamyltransferase 1
ISO
protein:increased activity:blood:
RGD
PMID:1680936
RGD:14747017
NCBI chr10:75,396,910...75,422,027
Ensembl chr10:75,397,438...75,422,034
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H2-Eb1
histocompatibility 2, class II antigen E beta
ISO
DNA:polymorphism (human)
RGD
PMID:20353806
RGD:5147577
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Slc11a1
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
ISO
DNA:insertion/deletion:3' utr (human)
RGD
PMID:11791966
RGD:5684970
NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
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Foxp3
forkhead box P3
ISO
mRNA:increased expression:peripheral blood:
RGD
PMID:25483347
RGD:38456003
NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
DNA:polymorphisms (human)
RGD
PMID:14522182
RGD:5147828
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
ISO
DNA:polymorphism (human)
RGD
PMID:14522182
RGD:5147828
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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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 chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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Cxcl15
C-X-C motif chemokine ligand 15
ISO
protein:increased expression:blood plasma, erythrocyte (human)
RGD
PMID:26300588
RGD:11250849
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Il17a
interleukin 17A
ISO
RGD
PMID:20797909
RGD:4888520
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Tnf
tumor necrosis factor
ISO
associated with HIV Infections
RGD
PMID:7640175
RGD:10450731
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Cxcl15
C-X-C motif chemokine ligand 15
treatment
ISO
RGD
PMID:27650493
RGD:39939071
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Nefl
neurofilament, light polypeptide
disease_progression
ISO
protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
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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 chr17:48,653,429...48,659,304
Ensembl chr17:48,653,429...48,661,175
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Il10
interleukin 10
ISO
protein:increased expression:aqueous humor
RGD
PMID:22583692
RGD:7364832
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Hp
haptoglobin
IEP
RGD
PMID:21388634
RGD:5144216
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
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Ggt1
gamma-glutamyltransferase 1
ISO
protein:increased activity:blood:
RGD
PMID:1680936
RGD:14747017
NCBI chr10:75,396,910...75,422,027
Ensembl chr10:75,397,438...75,422,034
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Ccr5
C-C motif chemokine receptor 5
resistance
ISO
DNA:polymorphism:cds:p.H184R (rat)
RGD
PMID:18703167
RGD:4890425
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Cxcl1
C-X-C motif chemokine ligand 1
IMP
RGD
PMID:21356370
RGD:5134954
NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
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Il17a
interleukin 17A
ISO
mRNA,protein:increased expression:lymph node
RGD
PMID:20876291
RGD:4781452
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il1b
interleukin 1 beta
IMP
RGD
PMID:20565713
RGD:4142820
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Mavs
mitochondrial antiviral signaling protein
susceptibility
IMP
RGD
PMID:25064677
RGD:40903046
NCBI chr 2:131,075,445...131,089,945
Ensembl chr 2:131,075,983...131,089,945
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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 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159
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Ccl22
C-C motif chemokine ligand 22
ISO
RGD
PMID:20337996
RGD:4891473
NCBI chr 8:95,472,312...95,478,016
Ensembl chr 8:95,472,218...95,478,327
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:19159432
RGD:4145106
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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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 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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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:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484
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Il1b
interleukin 1 beta
ISO
DNA:polymorphism: :3953T>C (human)
RGD
PMID:10377182
RGD:4143226
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1rn
interleukin 1 receptor antagonist
ISO
DNA:repeat (human)
RGD
PMID:10377182
RGD:4143226
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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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 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Il33
interleukin 33
ISO
protein:increased expression:pleural fluid:
RGD
PMID:23301222
RGD:39939042
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:pleura:
RGD
PMID:18715875
RGD:5129700
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:18295348
RGD:4144193
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tnc
tenascin C
ISO
protein:increased expression:pleura
RGD
PMID:10950882
RGD:4889594
NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252
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Ido1
indoleamine 2,3-dioxygenase 1
IMP
RGD
PMID:20385761
RGD:39938865
NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025
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Abcb1a
ATP-binding cassette, sub-family B member 1A
treatment
ISO
DNA:SNP: :2677G>A (human)
RGD
PMID:26067842
RGD:11098541
NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
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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 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:plasma
RGD
PMID:22022605
RGD:5686405
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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Akt1
thymoma viral proto-oncogene 1
susceptibility
ISO
DNA:SNP,haplotype:intron: IVS3+18 C/C (human)
RGD
PMID:20141546
RGD:38676498
NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
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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 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139
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Asap1
ArfGAP with SH3 domain, ankyrin repeat and PH domain1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25774636
NCBI chr15:63,958,704...64,254,922
Ensembl chr15:63,958,706...64,254,768
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Atf3
activating transcription factor 3
ISO
mRNA,protein:increased expression:lung
RGD
PMID:20856677
RGD:34888225
NCBI chr 1:190,902,493...190,915,530
Ensembl chr 1:190,902,493...190,950,236
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C3
complement component 3
ISO
RGD
PMID:19472039
RGD:5129500
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Ccl1
C-C motif chemokine ligand 1
susceptibility
ISO IEP
DNA:SNP: :multiple (human) mRNA:increased expression:lung, dendritic cell
RGD
PMID:19057661 PMID:18703681
RGD:4891408 , RGD:4891409
NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516
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Ccl19
C-C motif chemokine ligand 19
IEP
mRNA:increased expression:lung
RGD
PMID:19933855
RGD:5130906
NCBI chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577
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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 chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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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 chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Ccr2
C-C motif chemokine receptor 2
disease_progression
IMP
RGD
PMID:11438742
RGD:734715
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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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 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Cd14
CD14 antigen
susceptibility
ISO
DNA:polymorphism:promoter:c. -159C>T (human)|protein:increased expression:monocyte, serum
RGD
PMID:18008256 PMID:18008256
RGD:4144205 , RGD:4144205
NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851
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Cd163
CD163 antigen
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 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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Cd1d1
CD1d1 antigen
susceptibility
ISO
DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human)
RGD
PMID:30972222
RGD:127345096
NCBI chr 3:86,903,141...86,919,665
Ensembl chr 3:86,903,141...86,906,748
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Cd209b
CD209b antigen
susceptibility
IMP 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 chr 8:3,967,655...3,976,841
Ensembl chr 8:3,967,655...3,976,844
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Cd209d
CD209d antigen
susceptibility
ISO
associated with HIV Seropositivity; DNA:SNP:promoter: -336A>G (rs4804803) (human)
RGD
PMID:19126442
RGD:39939062
NCBI chr 8:3,921,824...3,928,548
Ensembl chr 8:3,921,824...3,928,555
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Cd274
CD274 antigen
ISO
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793
RGD:40818418
NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
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Cd36
CD36 molecule
susceptibility
ISO
DNA:SNPs: :rs1194182, rs10499859(human)
RGD
PMID:28693442
RGD:41412192
NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
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Cd86
CD86 antigen
ISO
protein:decreased expression:sputum, macrophage (human)
RGD
PMID:17713660
RGD:4892339
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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Crp
C-reactive protein, pentraxin-related
severity
ISO
associated with HIV Infections
RGD
PMID:21219690 PMID:21197091
RGD:5131284 , RGD:5131287
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Cxcl10
C-X-C motif chemokine ligand 10
treatment
ISO
RGD
PMID:29843631
RGD:27095956
NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748
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Cxcl15
C-X-C motif chemokine ligand 15
exacerbates
ISO
protein:increased expression:serum (human) RNA:increased expression:blood plasma (human)
RGD
PMID:16001981 PMID:27434276
RGD:150523784 RGD:39939055
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Cxcl2
C-X-C motif chemokine ligand 2
disease_progression
IEP
RGD
PMID:20454613
RGD:5135037
NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797
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Cxcl5
C-X-C motif chemokine ligand 5
susceptibility
IEP
mRNA:increased expression:lung
RGD
PMID:16790804
RGD:5135246
NCBI chr 5:90,907,157...90,909,484
Ensembl chr 5:90,907,219...90,909,483
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Cyba
cytochrome b-245, alpha polypeptide
no_association
ISO
DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human)
RGD
PMID:16608528
RGD:4780358
NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
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Ddit3
DNA-damage inducible transcript 3
ISO
mRNA,protein:increased expression:lung
RGD
PMID:20856677
RGD:34888225
NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157 Ensembl chr10:127,126,643...127,132,157
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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 chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
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Ereg
epiregulin
susceptibility
ISO
DNA:SNP:exon 4: (rs2367707) (human)
RGD
PMID:30634928
RGD:39457687
NCBI chr 5:91,222,476...91,241,508
Ensembl chr 5:91,222,481...91,241,505
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Foxp3
forkhead box P3
susceptibility
ISO
DNA:polymorphism:promoter:-924A>G(human)
RGD
PMID:29020928
RGD:38501101
NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484
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Gbe1
1,4-alpha-glucan branching enzyme 1
ISO
DNA:SNP:intron:rs2307058 (human)
RGD
PMID:28355295
RGD:18337291
NCBI chr16:70,110,837...70,366,608
Ensembl chr16:70,110,837...70,366,604
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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 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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Gstt1
glutathione S-transferase, theta 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:20297661
RGD:4140932
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
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 chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
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 chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Havcr2
hepatitis A virus cellular receptor 2
ISO
RGD
PMID:21382414
RGD:5135524
NCBI chr11:46,345,758...46,372,082
Ensembl chr11:46,345,762...46,372,082
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Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:32369456
RGD:39939073
NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025
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Il13
interleukin 13
ISO
mRNA:increased expression:Leukocytes, Mononuclear
RGD
PMID:10608794
RGD:4145649
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il15
interleukin 15
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11742275
RGD:4990461
NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
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Il18
interleukin 18
ISO
protein:increased expression:serum
RGD
PMID:15955140
RGD:4889836
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1a
interleukin 1 alpha
IEP
RGD
PMID:9176116
RGD:4142835
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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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 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1rl1
interleukin 1 receptor-like 1
IMP
RGD
PMID:28128217
RGD:39938965
NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575
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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 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il23a
interleukin 23, alpha subunit p19
IMP IEP
mRNA:increased expression:lung (mouse)
RGD
PMID:16002675 PMID:21156751 PMID:20624887 PMID:11801672
RGD:39457949 , RGD:39458038 , RGD:39458036 , RGD:39457953
NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621
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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 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Il27ra
interleukin 27 receptor, alpha
IMP
RGD
PMID:15749890
RGD:5128486
NCBI chr 8:84,756,915...84,769,250
Ensembl chr 8:84,756,923...84,769,218
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Il33
interleukin 33
IDA
RGD
PMID:28128217
RGD:39938965
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Il4
interleukin 4
severity
IEP
RGD
PMID:20832364
RGD:5128550
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Il4ra
interleukin 4 receptor, alpha
ISO
protein:decreased expression:serum
RGD
PMID:21251883
RGD:5128510
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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Il6
interleukin 6
ISO
RGD
PMID:20624776
RGD:4143257
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Il6ra
interleukin 6 receptor, alpha
ISO
protein:decreased expression:T cell
RGD
PMID:20019339
RGD:5128632
NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503
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Irf1
interferon regulatory factor 1
IMP
RGD
PMID:11083808
RGD:5128719
NCBI chr11:53,660,841...53,669,200
Ensembl chr11:53,660,841...53,669,200
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Itih4
inter alpha-trypsin inhibitor, heavy chain 4
ISO
protein:increased expression:urine
RGD
PMID:29636444
RGD:40903003
NCBI chr14:30,608,433...30,623,943
Ensembl chr14:30,608,433...30,624,310
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Jun
jun proto-oncogene
ISO
protein:decreased phosphorylation:macrophage, nucleus
RGD
PMID:19737230
RGD:4889999
NCBI chr 4:94,937,273...94,940,459
Ensembl chr 4:94,937,271...94,940,459
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Lcn2
lipocalin 2
exacerbates disease_progression
IMP
RGD
PMID:19050270 PMID:30534124
RGD:126779558 , RGD:126779565
NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264
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Lta
lymphotoxin A
susceptibility
ISO
DNA:polymorphism:intron:252G>A (human)
RGD
PMID:20180006
RGD:4143234
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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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 chr 1:120,402,267...120,432,753
Ensembl chr 1:120,402,267...120,432,753
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Mbl2
mannose-binding lectin (protein C) 2
ISO
DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:19199550
RGD:4889452
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Mif
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
susceptibility
ISO
DNA:SNP: :rs755622 (human)
RGD
PMID:20439102
RGD:4891004
NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
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Mir30a
microRNA 30a
disease_progression
ISO
RGD
PMID:25866116
RGD:35668864
NCBI chr 1:23,311,350...23,311,420
Ensembl chr 1:23,311,350...23,311,420
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Mmp3
matrix metallopeptidase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975
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Mmp7
matrix metallopeptidase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chr 9:7,692,095...7,699,587
Ensembl chr 9:7,692,091...7,699,587
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Mmp8
matrix metallopeptidase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chr 9:7,558,430...7,568,487
Ensembl chr 9:7,558,457...7,568,486
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Mmp9
matrix metallopeptidase 9
IMP
RGD
PMID:16982845
RGD:5130746
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Nat2
N-acetyltransferase 2 (arylamine N-acetyltransferase)
susceptibility
ISO
RGD
PMID:20297661
RGD:4140932
NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236
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Nfkbia
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:9379002
RGD:126908014
NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432
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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 chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
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Nos2
nitric oxide synthase 2, inducible
ISO
DNA:SNPs:multiple (human)
RGD
PMID:19575238
RGD:4144122
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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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 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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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 chr19:29,388,319...29,450,327
Ensembl chr19:29,388,319...29,448,561
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Plaur
plasminogen activator, urokinase receptor
severity
ISO
RGD
PMID:18359089
RGD:6483832
NCBI chr 7:24,161,857...24,175,393
Ensembl chr 7:24,161,909...24,175,393
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
ISO
DNA:SNPs:cds:788G>A, 1858C>T (human)
RGD
PMID:19563523
RGD:6484723
NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563
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Sftpa1
surfactant associated 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 chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409
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Slc11a1
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
susceptibility
ISO
DNA:polymorphism:intron (human) DNA:deletion:3'UTR:
RGD
PMID:21169917 PMID:24024195
RGD:5684974 , RGD:36049753
NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
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Tap1
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
ISO
associated with HIV Infections;
RGD
PMID:21843574
RGD:6482248
NCBI chr17:34,406,530...34,416,199
Ensembl chr17:34,406,527...34,416,199
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Tap2
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:9062973
RGD:5147851
NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295
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Tlr1
toll-like receptor 1
ISO
mRNA:increased expression:blood
RGD
PMID:16493059
RGD:4889525
NCBI chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906
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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 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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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 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tlr9
toll-like receptor 9
ISO
DNA:snps:multiple (human)
RGD
PMID:19771452
RGD:5130704
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Tnf
tumor necrosis factor
susceptibility disease_progression
ISO IEP
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 chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Trem1
triggering receptor expressed on myeloid cells 1
disease_progression
ISO
RGD
PMID:29844416
RGD:126925977
NCBI chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952
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Vdr
vitamin D (1,25-dihydroxyvitamin D3) 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 chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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Ada
adenosine deaminase
ISO
protein:increased expression:serum
RGD
PMID:9255891
RGD:5128857
NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159
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Dhcr24
24-dehydrocholesterol reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr 4:106,418,279...106,446,310
Ensembl chr 4:106,418,235...106,446,310
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Flot1
flotillin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr17:36,134,243...36,143,674
Ensembl chr17:36,134,122...36,143,683
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Hmgcr
3-hydroxy-3-methylglutaryl-Coenzyme A reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr13:96,785,470...96,807,444
Ensembl chr13:96,785,475...96,807,444
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Ldlr
low density lipoprotein receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215
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Lss
lanosterol synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr10:76,367,303...76,392,973
Ensembl chr10:76,367,422...76,392,972
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Il4ra
interleukin 4 receptor, alpha
ISO
protein:decreased expression:serum DNA:polymorphism:cds:p.I50V (human)
RGD
PMID:21251883 PMID:19548368
RGD:5128510 , RGD:7207069
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:17321882
RGD:8547664
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:17321882
RGD:8547664
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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Adar
adenosine deaminase, RNA-specific
IEP
mRNA:splice variant:liver (mouse)
RGD
PMID:12228285
RGD:125097511
NCBI chr 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753
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Ahr
aryl-hydrocarbon receptor
severity
IMP
RGD
PMID:24930766
RGD:39939032
NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037
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Aicda
activation-induced cytidine deaminase
severity
IMP
RGD
PMID:29743315
RGD:127285640
NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139
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Ank1
ankyrin 1, erythroid
IMP
RGD
PMID:23390527
RGD:11041609
NCBI chr 8:23,464,852...23,640,517
Ensembl chr 8:23,464,860...23,640,513
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Cxcl15
C-X-C motif chemokine ligand 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29421334
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Hamp
hepcidin antimicrobial peptide
IMP
RGD
PMID:23390527
RGD:11041609
NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457
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Ido1
indoleamine 2,3-dioxygenase 1
susceptibility
IMP
RGD
PMID:24930766
RGD:39939032
NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16002714
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Slc11a1
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
IAGP
RGD
PMID:14734525
RGD:5684962
NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
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Tlr5
toll-like receptor 5
ISO
mRNA, protein:increased expression:jejunum, colon (rat)
RGD
PMID:20529359
RGD:5129497
NCBI chr 1:182,782,317...182,804,010
Ensembl chr 1:182,782,353...182,804,010
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Coq7
demethyl-Q 7
susceptibility
IMP
RGD
PMID:23166727
RGD:10402105
NCBI chr 7:118,108,881...118,132,529
Ensembl chr 7:118,108,882...118,132,579
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Il12b
interleukin 12b
susceptibility
ISO
disseminated BCG and Salmonella enteritidis infection, OMIM:209950
RGD
PMID:9854038
RGD:1600042
NCBI chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860
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Egf
epidermal growth factor
treatment
IDA
RGD
PMID:30615126
RGD:39938959
NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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Ido1
indoleamine 2,3-dioxygenase 1
treatment
IDA
RGD
PMID:30615126
RGD:39938959
NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025
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Il10
interleukin 10
treatment
IEP
RGD
PMID:30615126
RGD:39938959
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il12b
interleukin 12b
treatment
IEP
RGD
PMID:30615126
RGD:39938959
NCBI chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860
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Il1b
interleukin 1 beta
treatment
IEP
RGD
PMID:30615126
RGD:39938959
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Sting1
stimulator of interferon response cGAMP interactor 1
severity
IMP
RGD
PMID:31141689
RGD:39128194
NCBI chr18:35,866,731...35,873,607
Ensembl chr18:35,866,732...35,873,607
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H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
DNA:missense mutation:CDS:c.592C>G (p.Q198E) (human)
RGD
PMID:29795056
RGD:126928140
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:18008231
RGD:8551830
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Foxp3
forkhead box P3
treatment
ISO
RGD
PMID:27284313
RGD:38456006
NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484
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Nefl
neurofilament, light polypeptide
ISO
associated with age;protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
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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 chr17:48,653,429...48,659,304
Ensembl chr17:48,653,429...48,661,175
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Tap2
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:9062973
RGD:5147851
NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295
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Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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Adam17
a disintegrin and metallopeptidase domain 17
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar
PMID:25741868
NCBI chr12:21,373,510...21,423,633
Ensembl chr12:21,373,510...21,423,633
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Ager
advanced glycosylation end product-specific receptor
severity
IEP
RGD
PMID:22698798
RGD:6767307
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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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 chr17:34,573,763...34,588,466
Ensembl chr17:34,573,796...34,588,469
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Cbs
cystathionine beta-synthase
severity
IMP IEP
protein:increased expression:macrophages (mouse)
RGD
PMID:31992699 PMID:31992699
RGD:40903052 , RGD:40903052
NCBI chr17:31,831,602...31,856,170
Ensembl chr17:31,827,868...31,856,212
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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 chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516
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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 chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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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 chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509
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Cd209a
CD209a antigen
ISO
RGD
PMID:21454357 PMID:18167547
RGD:5131181 , RGD:5131186
NCBI chr 8:3,793,395...3,798,984
Ensembl chr 8:3,793,397...3,798,984
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Cd274
CD274 antigen
ISO
mRNA, protein:increased expression:blood, neutrophil
RGD
PMID:21509782
RGD:41412173
NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
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Cd86
CD86 antigen
IEP
protein:increased expression:lung (mouse)
RGD
PMID:18292558
RGD:4892329
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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Cd8a
CD8 subunit alpha
susceptibility
ISO
mRNA:decreased expression:blood (human) associated with human immunodeficiency virus infectious disease;mRNA:increased expression:whole blood (human)
RGD
PMID:26725873 PMID:27553407
RGD:124715445 RGD:124715450
NCBI chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157
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Cebpb
CCAAT/enhancer binding protein beta
IEP
mRNA:increased expression:lung, spleen (mouse)
RGD
PMID:28558034
RGD:40903038
NCBI chr 2:167,530,835...167,532,352
Ensembl chr 2:167,530,835...167,532,338
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Ciita
class II transactivator
susceptibility
IMP
knockouts show increased susceptibility to infection by all available criteria including mycobacterial growth, lung damage and survival time
RGD
PMID:12828554
RGD:5491205
NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282
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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 9:107,173,858...107,179,983
Ensembl chr 9:107,173,225...107,179,983
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Coro1a
coronin, actin binding protein 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16040207
NCBI chr 7:126,298,946...126,303,925
Ensembl chr 7:126,298,945...126,306,959
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Cxcl15
C-X-C motif chemokine ligand 15
susceptibility
ISO
DNA:SNP:promoter:-251A>T (human) protein:increased expression:blood plasma, erythrocyte (human)
RGD
PMID:32393145 PMID:26300588
RGD:150520198 , RGD:11250849
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:serum
RGD
PMID:19281538
RGD:5135308
NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938
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Cyp2b10
cytochrome P450, family 2, subfamily b, polypeptide 10
treatment
ISO
associated with human immunodeficiency virus infectious disease; ;DNA:SNP: :516G>T (rs3745274)(human)
RGD
PMID:30239753
RGD:41412160
NCBI chr 7:25,597,083...25,626,049
Ensembl chr 7:25,597,045...25,626,049
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Cyp2b9
cytochrome P450, family 2, subfamily b, polypeptide 9
treatment
ISO
DNA:SNPs: :c.516G>T (rs3745274) and c.785A>G (rs2279343)(human)
RGD
PMID:28389387
RGD:41410886
NCBI chr 7:25,872,775...25,910,086
Ensembl chr 7:25,872,836...25,910,086
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Cyp2c38
cytochrome P450, family 2, subfamily c, polypeptide 38
treatment
ISO
DNA:polymorphisms:: CYP2C19*17(rs12248560),CYP2C19*2 (c.681C>A; rs4244285)(human)
RGD
PMID:27393733
RGD:124713542
NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519
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Ereg
epiregulin
susceptibility
ISO
DNA:SNP:intron: (rs7675690) (human)
RGD
PMID:22170233
RGD:39457686
NCBI chr 5:91,222,476...91,241,508
Ensembl chr 5:91,222,481...91,241,505
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H2-Aa
histocompatibility 2, class II antigen A, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26829749
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-DQB1*05
RGD
PMID:19030725
RGD:36049809
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
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 chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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H2-M2
histocompatibility 2, M region locus 2
susceptibility
ISO
associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-B41
RGD
PMID:19030725
RGD:36049809
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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H2-Q1
histocompatibility 2, Q region locus 1
susceptibility
ISO
associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-A31
RGD
PMID:19030725
RGD:36049809
NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075
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Has1
hyaluronan synthase 1
IEP
RGD
PMID:19876387
RGD:9588638
NCBI chr17:18,063,588...18,075,450
Ensembl chr17:18,063,585...18,075,467
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Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
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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 chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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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 chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977
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Il12rb1
interleukin 12 receptor, beta 1
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar
PMID:9603733 PMID:12591909 PMID:28492532
NCBI chr 8:71,261,005...71,276,186
Ensembl chr 8:71,261,093...71,274,068
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Il15
interleukin 15
IEP
mRNA:altered expression:lung, spleen
RGD
PMID:16367949
RGD:4987456
NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
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Il22
interleukin 22
ISO
RGD
PMID:21767990
RGD:5147402
NCBI chr10:118,040,456...118,045,952
Ensembl chr10:118,040,847...118,045,952
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Il22b
interleukin 22B
ISO
RGD
PMID:21767990
RGD:5147402
NCBI chr10:118,125,534...118,130,943
Ensembl chr10:118,125,534...118,130,943
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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 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Il33
interleukin 33
ISO
associated with Pleural Effusion;protein:increased expression:pleural biopsy
RGD
PMID:25755791
RGD:40400701
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Irak3
interleukin-1 receptor-associated kinase 3
ISO
mRNA, protein:increased expression:sputum (human)
RGD
PMID:19535630
RGD:36049800
NCBI chr10:119,977,553...120,038,035
Ensembl chr10:119,977,553...120,038,035
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Irgm1
immunity-related GTPase family M member 1
ISO
OMIM
NCBI chr11:48,756,072...48,762,247
Ensembl chr11:48,752,795...48,762,510
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Kir3dl1
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
susceptibility
ISO
DNA:deletion:cds
RGD
PMID:23073291
RGD:38676470
NCBI chr X:135,418,748...135,435,055
Ensembl chr X:135,418,748...135,435,058
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Klrk1
killer cell lectin-like receptor subfamily K, member 1
treatment
IMP ISO
RGD
PMID:16619285 PMID:23922903
RGD:39018558 , RGD:39128143
NCBI chr 6:129,587,286...129,600,863
Ensembl chr 6:129,587,286...129,600,827
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Mapkapk3
mitogen-activated protein kinase-activated protein kinase 3
ISO
ClinVar Annotator: match by term: Tuberculosis, susceptibility to
ClinVar
PMID:20484391
NCBI chr 9:107,132,125...107,167,082
Ensembl chr 9:107,132,126...107,167,076
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Nfe2l2
nuclear factor, erythroid derived 2, like 2
treatment
ISO
DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human)
RGD
PMID:31586142
RGD:42722614
NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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Nrg1
neuregulin 1
susceptibility
ISO
DNA:SNP, haplotype: (rs16879814)
RGD
PMID:25919455
RGD:39456091
NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825 Ensembl chr 8:32,304,579...33,374,825
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:27865385
RGD:41412174
NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
IMP
RGD
PMID:30514491
RGD:38599199
NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658
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Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
IMP
RGD
PMID:29892302
RGD:127229926
NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322
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Slc11a1
solute carrier family 11 (proton-coupled divalent metal ion transporters), 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 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
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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 1:85,498,462...85,538,571
Ensembl chr 1:85,504,620...85,526,538
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:15863395
RGD:1581371
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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Sting1
stimulator of interferon response cGAMP interactor 1
IMP
RGD
PMID:29791904
RGD:39128196
NCBI chr18:35,866,731...35,873,607
Ensembl chr18:35,866,732...35,873,607
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Tirap
toll-interleukin 1 receptor (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 9:35,095,687...35,111,587
Ensembl chr 9:35,095,847...35,111,587
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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 chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906
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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 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
IMP
RGD
PMID:12218133
RGD:4144821
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tlr6
toll-like receptor 6
susceptibility
ISO
DNA:missense mutations:cds:multiple (human)
RGD
PMID:18091991
RGD:7246918
NCBI chr 5:65,109,373...65,128,387
Ensembl chr 5:65,109,374...65,117,440
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:20537163
RGD:4143229
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf1b
tumor necrosis factor receptor superfamily, member 1b
ISO
DNA:snp:3' utr:g.*215C>T rs3397 (human)
RGD
PMID:20007930
RGD:5131209
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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Tnfsf8
tumor necrosis factor (ligand) superfamily, member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30202016
NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
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Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
susceptibility
ISO
associated with HIV Infections;DNA:SNPs:3' UTR (human)
RGD
PMID:18712587
RGD:4889839
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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Cd86
CD86 antigen
IEP
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:16272336
RGD:4892560
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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Cxcl2
C-X-C motif chemokine ligand 2
IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:21277990
RGD:5135025
NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797
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Ifng
interferon gamma
IEP
protein:increased expression:serum
RGD
PMID:26853540
RGD:14974256
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Il17a
interleukin 17A
IMP
RGD
PMID:20585449
RGD:4888521
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il23a
interleukin 23, alpha subunit p19
IMP
RGD
PMID:25296161
RGD:39458039
NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621
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Mmp9
matrix metallopeptidase 9
IMP
RGD
PMID:17202364
RGD:5130727
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Cftr
cystic fibrosis transmembrane conductance regulator
susceptibility
ISO
DNA:repeats: :CA repeats(human)
RGD
PMID:16078047
RGD:35673348
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
DNA:polymorphisms::
RGD
PMID:11120931
RGD:36049756
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
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 chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Lta
lymphotoxin A
susceptibility
ISO
DNA:SNP::
RGD
PMID:11120931
RGD:36049756
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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Tlr2
toll-like receptor 2
IMP
RGD
PMID:25667264
RGD:11061268
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:-308G>A (rs1800629) (human)
RGD
PMID:11120931
RGD:36049756
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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