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: Gram-Positive Bacterial Infections
Accession: DOID:9002823
browse the term
Definition: Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method.
Synonyms: exact_synonym: Gram-Positive Bacterial Infection
primary_id: MESH:D016908 ; RDO:0004727
For additional species annotation, visit the
Alliance of Genome Resources .
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Icos
inducible T-cell co-stimulator
ISO
RGD
PMID:12421962
RGD:1624276
NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
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Rnase3
ribonuclease A family member 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21696142
NCBI chr15:28,216,744...28,217,614
Ensembl chr15:28,216,744...28,217,614
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:18354210
RGD:7240560
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Antxr2
ANTXR cell adhesion molecule 2
IDA
RGD
PMID:17054395
RGD:1599126
NCBI chr14:13,191,716...13,331,286
Ensembl chr14:13,192,347...13,274,978
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Elane
elastase, neutrophil expressed
ISO
protein:increased expression:plasma:
RGD
PMID:19049643
RGD:10450550
NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
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Il1b
interleukin 1 beta
disease_progression
ISO
mRNA:decreased expression:multiple (mouse)
RGD
PMID:19075243
RGD:40902812
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Rnasel
ribonuclease L
severity
ISO
RGD
PMID:19075243
RGD:40902812
NCBI chr13:71,188,712...71,202,636
Ensembl chr13:71,192,142...71,202,625
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Tnf
tumor necrosis factor
disease_progression
ISO
protein:decreased expression:multiple (mouse)
RGD
PMID:19075243
RGD:40902812
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:16923792
RGD:39457937
NCBI chr 7:2,710,609...2,712,723
Ensembl chr 7:2,710,609...2,712,723
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Il4
interleukin 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17387165
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
ClinVar Annotator: match by OMIM:610446 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:16395392
NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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Il23a
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:26455347
RGD:11097134
NCBI chr 7:2,710,609...2,712,723
Ensembl chr 7:2,710,609...2,712,723
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Il33
interleukin 33
treatment severity
ISO
RGD
PMID:32156806 , PMID:32156806
RGD:40400894 , RGD:40400894
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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Comt
catechol-O-methyltransferase
severity
ISO
DNA:missense mutation:cds: (rs4680) (human)
RGD
PMID:20184498
RGD:8662334
NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
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Tlr2
toll-like receptor 2
ISO
mRNA:increased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Tlr4
toll-like receptor 4
ISO
mRNA:decreased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Cd209
CD209 molecule
susceptibility
ISO
DNA:SNPs:promoter: -939G>A,-871A>G (rs735239) (human)
RGD
PMID:24874302
RGD:39938981
NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
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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 chr12:2,817,633...2,826,303
Ensembl chr12:2,816,065...2,826,378
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Ereg
epiregulin
susceptibility
ISO
DNA:SNP:exon 4: (rs2367707) (human)
RGD
PMID:30634928
RGD:39457687
NCBI chr14:18,577,620...18,591,395
Ensembl chr14:18,576,355...18,591,394
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Ifngr1
interferon gamma receptor 1
ISO
ClinVar Annotator: match by term: IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM ClinVar
PMID:10192386 PMID:11583830 PMID:15589309 PMID:18171304 PMID:20015550 PMID:28492532 PMID:28902581
NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
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Stat1
signal transducer and activator of transcription 1
ISO
ClinVar Annotator: match by term: Mycobacterial and viral infections, susceptibility to, autosomal recessive ClinVar Annotator: match by term: IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE ClinVar Annotator: match by OMIM:613796 ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM ClinVar
PMID:12590259 PMID:16585605 PMID:20841510 PMID:21714643 PMID:21727188 PMID:22195034 PMID:22208278 PMID:22730530 PMID:22847544 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24188975 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25326637 PMID:25367169 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26494717 PMID:26513235 PMID:26604104 PMID:26621323 PMID:26732859 PMID:26743090 PMID:26938784 PMID:26948078 PMID:27114460 PMID:27117246 PMID:27379765 PMID:27808400 PMID:28011069 PMID:28161409 PMID:28258222 PMID:28427548 PMID:28492532 PMID:28597685 PMID:28622416 PMID:29111217 PMID:30030262 PMID:30131873 PMID:30442829
NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
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G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED
ClinVar
PMID:25741868
NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 33 ClinVar Annotator: match by term: Invasive pneumococcal disease, recurrent isolated, 2 ClinVar Annotator: match by term: Immunodeficiency without anhidrotic ectodermal dysplasia ClinVar Annotator: match by term: IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED ClinVar Annotator: match by OMIM:300636
OMIM ClinVar
PMID:11590134 PMID:12459250 PMID:15229184 PMID:15356572 PMID:15577852 PMID:15833888 PMID:16532398 PMID:16818673 PMID:16950813 PMID:18179816 PMID:25068423 PMID:25741868 PMID:28993958 PMID:29534156 PMID:31965418
NCBI chr X:156,254,187...156,280,046
Ensembl chr X:156,257,173...156,270,748
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Cybb
cytochrome b-245 beta chain
ISO
ClinVar Annotator: match by term: Atypical mycobacteriosis, familial, X-linked 2 ClinVar Annotator: match by OMIM:300645
OMIM ClinVar
PMID:17293536 PMID:21278736 PMID:25741868 PMID:28492532
NCBI chr X:14,578,330...14,610,049
Ensembl chr X:14,578,264...14,612,547
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Isg15
ISG15 ubiquitin-like modifier
ISO
ClinVar Annotator: match by OMIM:616126 ClinVar Annotator: match by term: Immunodeficiency 38 with basal ganglia calcification
ClinVar OMIM
PMID:22859821 PMID:25307056 PMID:25741868 PMID:28492532
NCBI chr 5:173,624,862...173,629,124
Ensembl chr 5:173,624,310...173,626,248
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Irak4
interleukin-1 receptor-associated kinase 4
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 67 ClinVar Annotator: match by term: Invasive pneumococcal disease, recurrent isolated ClinVar Annotator: match by term: IRAK4 deficiency ClinVar Annotator: match by OMIM:607676 ClinVar Annotator: match by null
OMIM ClinVar
PMID:9789052 PMID:12637671 PMID:12925671 PMID:15520784 PMID:16647421 PMID:16950813 PMID:17114497 PMID:17312103 PMID:17544092 PMID:17878374 PMID:17893200 PMID:19663824 PMID:20621347 PMID:21057262 PMID:23538514 PMID:24033266 PMID:24316379 PMID:25344726 PMID:25741868 PMID:26472314 PMID:26825884 PMID:28492532
NCBI chr 7:135,803,723...135,831,006
Ensembl chr 7:135,803,698...135,832,652
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Tirap
TIR domain containing adaptor protein
ISO
ClinVar Annotator: match by term: Invasive pneumococcal disease, protection against
ClinVar
PMID:16991088 PMID:17322885 PMID:18305471
NCBI chr 8:36,382,029...36,399,625
Ensembl chr 8:36,385,353...36,388,224
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Myd88 deficiency ClinVar Annotator: match by OMIM:612260
OMIM ClinVar
PMID:18669862 PMID:21179087 PMID:22931316 PMID:23215570 PMID:24728327 PMID:26619011 PMID:28492532 PMID:31301515
NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
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Ifng
interferon gamma
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 69
ClinVar OMIM
PMID:32163377
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Cxcl10
C-X-C motif chemokine ligand 10
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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Cxcl11
C-X-C motif chemokine ligand 11
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chr14:17,195,395...17,198,170
Ensembl chr14:17,195,014...17,198,291
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Cxcl9
C-X-C motif chemokine ligand 9
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
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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 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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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 chr13:84,334,598...84,368,154
Ensembl chr13:84,334,598...84,368,154
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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 chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
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Tlr1
toll-like receptor 1
ISO
ClinVar Annotator: match by term: Latent Tuberculosis
ClinVar
NCBI chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991
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C3
complement C3
severity
ISO
protein:decreased expression:serum
RGD
PMID:6342123
RGD:7411735
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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Cfb
complement factor B
severity
ISO
RGD
PMID:6342123
RGD:7411735
NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066 Ensembl chr20:4,536,203...4,561,066
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:SNP:cds:161G>A (human)
RGD
PMID:20650301
RGD:8694069
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Vdr
vitamin D receptor
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Batf3
basic leucine zipper ATF-like transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25642632
NCBI chr13:109,713,376...109,726,438
Ensembl chr13:109,713,489...109,724,863
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Ccdc88b
coiled-coil domain containing 88B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25642632
NCBI chr 1:222,102,436...222,118,485
Ensembl chr 1:222,102,437...222,118,459
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Il17a
interleukin 17A
severity
ISO
mRNA:decreased expression:epidermis (human)
RGD
PMID:22641009
RGD:8698644
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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Il23r
interleukin 23 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019778
NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
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Lta
lymphotoxin alpha
susceptibility
ISO
ClinVar Annotator: match by synonym: Leprosy, early-onset, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:15052269 PMID:17353895
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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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 chr17:81,352,700...81,433,743
Ensembl chr17:81,352,700...81,433,743
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
DNA:polymorphisms: :multiple (human)
RGD
PMID:20350193
RGD:5508743
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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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:12730996 PMID:12891670 PMID:14519684 PMID:15390068 PMID:15970950 PMID:16049031 PMID:16714300 PMID:17766365 PMID:19162522 PMID:19636047 PMID:19801972 PMID:20457763 PMID:20798600 PMID:22118943 PMID:22555654 PMID:23531835 PMID:24033266 PMID:24082139 PMID:24831986 PMID:25591737 PMID:25741868 PMID:25815004 PMID:25907632 PMID:25939424 PMID:26188007 PMID:26467025 PMID:26764160 PMID:26836416 PMID:26855076 PMID:27182553 PMID:27294386 PMID:28492532
NCBI chr 1:48,880,015...50,069,998
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Rab32
RAB32, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019778
NCBI chr 1:4,638,663...4,653,220
Ensembl chr 1:4,637,491...4,653,210
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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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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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
PMID:16597321 , PMID:15755200 , PMID:10608779
RGD:5684957 , RGD:5684972
NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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Tlr1
toll-like receptor 1
susceptibility
ISO
DNA:snp:cds:p.I602S (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leprosy, protection against ClinVar Annotator: match by OMIM:613223
CTD OMIM ClinVar
PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 PMID:26729809 , PMID:17548585
RGD:7246917
NCBI chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991
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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 Annotator: match by OMIM:246300
ClinVar CTD OMIM
PMID:11476982 PMID:12646604 PMID:15726416 PMID:19111445 PMID:25741868 , PMID:18177245
RGD:8553055
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:−308G>A (human)
RGD
PMID:20650301
RGD:8694069
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25320285
NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
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Cebpb
CCAAT/enhancer binding protein beta
severity
ISO
RGD
PMID:17911624
RGD:40903039
NCBI chr 3:164,424,502...164,425,933
Ensembl chr 3:164,424,515...164,425,910
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Cyld
CYLD lysine 63 deubiquitinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23825949
NCBI chr19:19,264,984...19,323,817
Ensembl chr19:19,265,164...19,315,357
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Il15
interleukin 15
IEP
protein:increased expression:epithelial cell, intestine
RGD
PMID:9826341
RGD:1626618
NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
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Il17d
interleukin 17D
severity
ISO
RGD
PMID:31244826
RGD:40903065
NCBI chr15:37,790,211...37,807,653
Ensembl chr15:37,790,141...37,807,660
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Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
RGD
PMID:8855299
RGD:11522760
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:19923464 , PMID:22966045
RGD:39457955 , RGD:39457958
NCBI chr 7:2,710,609...2,712,723
Ensembl chr 7:2,710,609...2,712,723
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Il33
interleukin 33
treatment
ISO
RGD
PMID:25577440
RGD:40400693
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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Mir21
microRNA 21
exacerbates
ISO
RGD
PMID:28589100
RGD:41404664
NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
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Mt1
metallothionein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19576872
NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
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Mt2A
metallothionein 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19576872
NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
ISO
RGD
PMID:26311905
RGD:40890274
NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:23378430 , PMID:21098106
RGD:39128219 , RGD:39128233
NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16751399
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16177108 PMID:21699557
NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
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Il4r
interleukin 4 receptor
ISO
protein:decreased expression:serum
RGD
PMID:21251883
RGD:5128510
NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
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Tnf
tumor necrosis factor
ISO
RGD
PMID:10318940
RGD:10449456
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Ggt1
gamma-glutamyltransferase 1
ISO
protein:increased activity:blood:
RGD
PMID:1680936
RGD:14747017
NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
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RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphism (human)
RGD
PMID:20353806
RGD:5147577
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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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 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
G
Foxp3
forkhead box P3
ISO
mRNA:increased expression:peripheral blood:
RGD
PMID:25483347
RGD:38456003
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
G
RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms (human)
RGD
PMID:14522182
RGD:5147828
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphism (human)
RGD
PMID:14522182
RGD:5147828
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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Il17a
interleukin 17A
ISO
RGD
PMID:20797909
RGD:4888520
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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Tnf
tumor necrosis factor
ISO
associated with HIV Infections
RGD
PMID:7640175
RGD:10450731
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Ace
angiotensin I converting enzyme
ISO
associated with pulmonary sarcoidosis;protein:increased expression:blood serum (human)
RGD
PMID:15881283
RGD:40818305
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Cd36
CD36 molecule
ISO
RGD
PMID:20950462
RGD:6893545
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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Defb4
defensin beta 4
ISO
protein:increased expression:plasma, respiratory system fluid/secretion
RGD
PMID:11296379
RGD:4892261
NCBI chr16:75,634,598...75,637,789
Ensembl chr16:75,634,598...75,637,789
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Ifng
interferon gamma
IEP
associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung
RGD
PMID:19060451
RGD:2311490
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
G
Ifngr1
interferon gamma receptor 1
ISO
DNA: missense mutations: cds: I87T; V63G ClinVar Annotator: match by term: Mycobacterial disease, Mendelian susceptibility to DNA: mutation
ClinVar
PMID:10192386 PMID:11583830 PMID:15589309 PMID:18171304 PMID:20015550 PMID:28492532 PMID:28902581 , PMID:21266457 , PMID:15589309
RGD:6480268 , RGD:6480429
NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
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Il22
interleukin 22
ISO
RGD
PMID:19864591
RGD:5147407
NCBI chr 7:61,236,037...61,240,502
Ensembl chr 7:61,236,037...61,240,502
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
associated with pulmonary sarcoidosis
RGD
PMID:15881283
RGD:40818305
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:point mutation (mouse)
RGD
PMID:11821237
RGD:5684969
NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11452125
NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15316035
NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:15316035 PMID:18941223
NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
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Bclaf1
BCL2-associated transcription factor 1
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:28492532
NCBI chr 1:15,799,753...15,828,838
Ensembl chr 1:15,782,477...15,860,624
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Cftr
CF transmembrane conductance regulator
susceptibility
ISO
DNA:mutations: : DNA:SNP:cds:rs113857788(p.Q1352H)(human)
RGD
PMID:19858235 , PMID:23514810 , PMID:18703788
RGD:4140395 , RGD:36049751 , RGD:4140430
NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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Ifngr1
interferon gamma receptor 1
susceptibility
ISO
DNA:nonsense mutation CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar Annotator: match by term: Atypical mycobacterial infection, familial disseminated ClinVar Annotator: match by term: IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive ClinVar Annotator: match by OMIM:209950
CTD ClinVar
PMID:8960473 PMID:8960475 PMID:9142806 PMID:9389728 PMID:9497247 PMID:9806040 PMID:10192386 PMID:10811850 PMID:11583830 PMID:12516030 PMID:12712974 PMID:12743658 PMID:15589309 PMID:17251453 PMID:18171304 PMID:18593809 PMID:19880337 PMID:19880857 PMID:20015550 PMID:21448974 PMID:24033266 PMID:25592983 PMID:25741868 PMID:26060819 PMID:26343451 PMID:27356097 PMID:28492532 PMID:28902581 , PMID:8960473
RGD:1624283
NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
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Ifngr2
interferon gamma receptor 2
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:28492532
NCBI chr11:31,694,339...31,712,611
Ensembl chr11:31,694,339...31,712,611
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Il12b
interleukin 12B
susceptibility
ISO
disseminated BCG and Salmonella enteritidis infection, OMIM:209950 ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive
ClinVar
PMID:9854038
RGD:1600042
NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
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Il12rb1
interleukin 12 receptor subunit beta 1
ISO
ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:19460324 PMID:24033266 PMID:28492532
NCBI chr16:20,370,722...20,383,576
Ensembl chr16:20,371,338...20,383,337
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Il18
interleukin 18
ISO
RGD
PMID:21045270
RGD:4889546
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il1r1
interleukin 1 receptor type 1
ISO
RGD
PMID:16797208
RGD:5037237
NCBI chr 9:46,962,291...47,038,139
Ensembl chr 9:46,962,288...47,036,670
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Il20ra
interleukin 20 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:28492532
NCBI chr 1:15,180,328...15,222,785
Ensembl chr 1:15,180,328...15,222,785
G
Il22ra2
interleukin 22 receptor subunit alpha 2
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:28492532
NCBI chr 1:15,084,136...15,107,423
Ensembl chr 1:15,093,599...15,106,954
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Map3k5
mitogen-activated protein kinase kinase kinase 5
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:28492532
NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
G
Map7
microtubule-associated protein 7
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:28492532
NCBI chr 1:15,620,665...15,748,203
Ensembl chr 1:15,620,653...15,748,203
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Mtfr2
mitochondrial fission regulator 2
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:28492532
NCBI chr 1:15,834,779...15,850,424
Ensembl chr 1:15,782,477...15,860,624
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Pde7b
phosphodiesterase 7B
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:28492532
NCBI chr 1:15,889,845...16,203,909
Ensembl chr 1:15,893,533...16,203,909
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Pex7
peroxisomal biogenesis factor 7
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:28492532
NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
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Slc35d3
solute carrier family 35, member D3
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:28492532
NCBI chr 1:15,298,526...15,301,998
Ensembl chr 1:15,298,526...15,301,998
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Stat1
signal transducer and activator of transcription 1
susceptibility
ISO
DNA:transition: ; 2116T>C ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Dominant
ClinVar
PMID:11452125
RGD:1600087
NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
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Il10
interleukin 10
ISO
protein:increased expression:aqueous humor
RGD
PMID:22583692
RGD:7364832
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Aoc3
amine oxidase, copper containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
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C1r
complement C1r
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
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C3
complement C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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F2
coagulation factor II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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Gsn
gelsolin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 3:14,456,106...14,508,922
Ensembl chr 3:14,467,330...14,508,911
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Tf
transferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
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Ggt1
gamma-glutamyltransferase 1
ISO
protein:increased activity:blood:
RGD
PMID:1680936
RGD:14747017
NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
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Ccl22
C-C motif chemokine ligand 22
ISO
RGD
PMID:20337996
RGD:4891473
NCBI chr19:10,674,189...10,681,145
Ensembl chr19:10,674,189...10,681,145
G
Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:19159432
RGD:4145106
G
Ccr5
C-C motif chemokine receptor 5
ISO
protein:increased expression:pleural fluid, natural killer cell (human)
RGD
PMID:19159432
RGD:4145106
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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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:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
G
Il1b
interleukin 1 beta
ISO
DNA:polymorphism: :3953T>C (human)
RGD
PMID:10377182
RGD:4143226
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il1rn
interleukin 1 receptor antagonist
ISO
DNA:repeat (human)
RGD
PMID:10377182
RGD:4143226
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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Il33
interleukin 33
ISO
protein:increased expression:pleural fluid:
RGD
PMID:23301222
RGD:39939042
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:pleura:
RGD
PMID:18715875
RGD:5129700
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:18295348
RGD:4144193
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Tnc
tenascin C
ISO
protein:increased expression:pleura
RGD
PMID:10950882
RGD:4889594
NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
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Il17a
interleukin 17A
susceptibility
ISO
associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human)
RGD
PMID:20437253
RGD:4889139
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
G
Tirap
TIR domain containing adaptor protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17322885
NCBI chr 8:36,382,029...36,399,625
Ensembl chr 8:36,385,353...36,388,224
G
Tlr9
toll-like receptor 9
ISO
RGD
PMID:17004992
RGD:5130710
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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Adam17
ADAM metallopeptidase domain 17
treatment
IMP
RGD
PMID:24491581
RGD:13703038
NCBI chr 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
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Aqp4
aquaporin 4
treatment
ISO
protein:increased expression:brain:
RGD
PMID:15695511 , PMID:15695511
RGD:8698660 , RGD:8698660
NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
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Camp
cathelicidin antimicrobial peptide
IEP
protein:increased expression:brain, coronal section (rat)
RGD
PMID:19879657
RGD:2316237
NCBI chr 8:117,930,557...117,932,371
Ensembl chr 8:117,930,546...117,932,518
G
Cxcl1
C-X-C motif chemokine ligand 1
IEP
RGD
PMID:21109308
RGD:5134982
NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
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Cysltr1
cysteinyl leukotriene receptor 1
disease_progression
IEP
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chr X:77,671,028...77,700,491
Ensembl chr X:77,674,150...77,700,269
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Cysltr2
cysteinyl leukotriene receptor 2
IEP
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
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Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:24844751
RGD:39939118
NCBI chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
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Il6
interleukin 6
treatment
IEP IDA IMP
protein:increased expression:brain
RGD
PMID:25443778 , PMID:8943431 , PMID:11581077
RGD:9831197 , RGD:11062107 , RGD:11060264
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Lgals3
galectin 3
IEP
mRNA, protein:increased expression:brain
RGD
PMID:17706429
RGD:9685206
NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
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Lgals9
galectin 9
IEP
RGD
PMID:17706429
RGD:9685206
NCBI chr10:64,737,022...64,760,195
Ensembl chr10:64,737,022...64,760,201
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Mmp2
matrix metallopeptidase 2
treatment
IMP
RGD
PMID:24419461
RGD:8657111
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
G
Mmp9
matrix metallopeptidase 9
treatment
IEP IMP
protein:increased expression:cerebrospinal fluid
RGD
PMID:17371820 , PMID:24419461
RGD:1642043 , RGD:8657111
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
mRNA, protein:increased expression:brain
RGD
PMID:25443778
RGD:9831197
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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Ntrk2
neurotrophic receptor tyrosine kinase 2
IEP
mRNA:increased expression:brain
RGD
PMID:21603940
RGD:5684913
NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
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Rela
RELA proto-oncogene, NF-kB subunit
IEP
protein:increased expression:brain, nucleus
RGD
PMID:25443778
RGD:9831197
NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
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Serping1
serpin family G member 1
treatment
ISO
RGD
PMID:17538891
RGD:8661645
NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
G
Tlr2
toll-like receptor 2
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
G
Tlr4
toll-like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
G
Tlr9
toll-like receptor 9
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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Tnf
tumor necrosis factor
disease_progression
IEP
protein:increased expression:brain mRNA:increased expression:brain (rat)
RGD
PMID:25443778 , PMID:31933824
RGD:9831197 , RGD:40903068
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Aicda
activation-induced cytidine deaminase
ISO
RGD
PMID:26456931
RGD:11098923
NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
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Alox5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:20231413
RGD:4890435
NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
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C3
complement C3
disease_progression
ISO IEP
protein:decreased expression:serum associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion
RGD
PMID:20405 , PMID:17956621 , PMID:15972516
RGD:5130163 , RGD:5129523 , RGD:5129509
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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C5
complement C5
severity
ISO
RGD
PMID:7814608
RGD:5130159
NCBI chr 3:14,049,993...14,113,931 NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
G
Ccl5
C-C motif chemokine ligand 5
susceptibility
ISO
RGD
PMID:16455992
RGD:4892130
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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Cd14
CD14 molecule
ISO
RGD
PMID:17185649
RGD:4144788
NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
G
Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:10515841
RGD:4892626
NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
G
Crhr1
corticotropin releasing hormone receptor 1
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chr10:92,191,473...92,233,662
Ensembl chr10:92,191,718...92,232,645
G
Crhr2
corticotropin releasing hormone receptor 2
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chr 4:85,286,371...85,329,374
Ensembl chr 4:85,286,372...85,329,362
G
Crp
C-reactive protein
disease_progression
ISO
RGD
PMID:21281676
RGD:5131293
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
G
Cxcl1
C-X-C motif chemokine ligand 1
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20958976
RGD:5134957
NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:lung
RGD
PMID:20381636
RGD:5135285
NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
G
Defb4
defensin beta 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr16:75,634,598...75,637,789
Ensembl chr16:75,634,598...75,637,789
G
Hmox1
heme oxygenase 1
ISO
associated with influenza;protein:increased expression:lung
RGD
PMID:17348295
RGD:4145366
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
G
Hp
haptoglobin
ISO
RGD
PMID:19396720
RGD:5147385
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
G
Il15
interleukin 15
ISO
protein:increased expression:alveolar macrophage, bronchial epithelial cell
RGD
PMID:17611121
RGD:5000755
NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
G
Il15ra
interleukin 15 receptor subunit alpha
ISO
RGD
PMID:17611121
RGD:5000755
NCBI chr17:70,451,861...70,481,838
Ensembl chr17:70,451,411...70,481,750
G
Il17a
interleukin 17A
ISO
RGD
PMID:19995896
RGD:4888531
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
G
Il18
interleukin 18
ISO
RGD
PMID:15770015
RGD:4889960
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
G
Il6
interleukin 6
ISO
RGD
PMID:20643849
RGD:4143255
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Lep
leptin
ISO
RGD
PMID:17822444
RGD:5128869
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
G
Lepr
leptin receptor
ISO
RGD
PMID:21148797
RGD:5128846
NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
G
Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
G
Mapk3
mitogen activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
G
Masp2
MBL associated serine protease 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12904520
NCBI chr 5:165,415,105...165,429,857
Ensembl chr 5:165,415,136...165,430,054
G
Mbl2
mannose binding lectin 2
no_association
ISO
DNA:mutations:5' utr, exon:multiple (human) DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:18641104 , PMID:12047967
RGD:4889477 , RGD:4889478
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
G
Nos2
nitric oxide synthase 2
ISO
RGD
PMID:17056580
RGD:4891950
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
G
Sftpd
surfactant protein D
severity
ISO
RGD
PMID:16255775
RGD:4143519
NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
G
Sirt1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
G
Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29263110
RGD:39128230
NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
G
Tlr2
toll-like receptor 2
ISO
RGD
PMID:19956717
RGD:4145321
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
G
Tnf
tumor necrosis factor
ISO
associated with influenza;protein:increased expression:lung
RGD
PMID:9032201 , PMID:17348295
RGD:4143479 , RGD:4145366
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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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 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
G
Ada
adenosine deaminase
ISO
protein:increased expression:plasma, respiratory system fluid/secretion
RGD
PMID:12194640
RGD:5128854
NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:plasma
RGD
PMID:22022605
RGD:5686405
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
G
Akt1
AKT serine/threonine kinase 1
susceptibility
ISO
DNA:SNP,haplotype:intron: IVS3+18 C/C (human)
RGD
PMID:20141546
RGD:38676498
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
G
Alox5
arachidonate 5-lipoxygenase
susceptibility
ISO
DNA:polymorphism, repeat:promoter, exon:g.760G>A (human)
RGD
PMID:18174194
RGD:4890411
NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
G
Asap1
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25774636
NCBI chr 7:104,670,076...104,951,090
Ensembl chr 7:104,669,672...104,801,045
G
Atf3
activating transcription factor 3
ISO
mRNA,protein:increased expression:lung
RGD
PMID:20856677
RGD:34888225
NCBI chr13:109,817,892...109,849,632
Ensembl chr13:109,817,728...109,849,632
G
C3
complement C3
ISO
RGD
PMID:19472039
RGD:5129500
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
G
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 chr10:69,534,976...69,537,836
Ensembl chr10:69,534,933...69,537,882
G
Ccl19
C-C motif chemokine ligand 19
ISO
mRNA:increased expression:lung
RGD
PMID:19933855
RGD:5130906
NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
G
Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO
DNA:polymorphism: :-2518A>G (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:16352737 PMID:18940815 , PMID:20111728
RGD:4891439
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
G
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 chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
G
Ccr2
C-C motif chemokine receptor 2
disease_progression
ISO
RGD
PMID:11438742
RGD:734715
G
Ccr5
C-C motif chemokine receptor 5
ISO
protein:decreased expression:blood, T cell (human)
RGD
PMID:16379602
RGD:4892094
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
G
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 chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
G
Cd209
CD209 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
PMID:16379498 , PMID:19126442 , PMID:24874302
RGD:39939062 , RGD:39938981
NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
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Cd274
CD274 molecule
ISO
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793
RGD:40818418
NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
G
Cd86
CD86 molecule
ISO
protein:decreased expression:sputum, macrophage (human)
RGD
PMID:17713660
RGD:4892339
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
G
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 chr12:2,817,633...2,826,303
Ensembl chr12:2,816,065...2,826,378
G
Crp
C-reactive protein
severity
ISO
associated with HIV Infections
RGD
PMID:21219690 , PMID:21197091
RGD:5131284 , RGD:5131287
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
G
Cxcl10
C-X-C motif chemokine ligand 10
treatment
ISO
RGD
PMID:29843631
RGD:27095956
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
G
Cxcl2
C-X-C motif chemokine ligand 2
disease_progression
ISO
RGD
PMID:20454613
RGD:5135037
NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
G
Cxcl6
C-X-C motif chemokine ligand 6
susceptibility
ISO
mRNA:increased expression:lung
RGD
PMID:16790804
RGD:5135246
NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
G
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 chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
G
Ddit3
DNA-damage inducible transcript 3
ISO
mRNA,protein:increased expression:lung
RGD
PMID:20856677
RGD:34888225
NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
G
Egfr
epidermal growth factor receptor
disease_progression
ISO
associated with lung adenocarcinoma;
RGD
PMID:29621876 , PMID:22173705
RGD:38599162 , RGD:38599176
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
G
Ereg
epiregulin
susceptibility
ISO
DNA:SNP:exon 4: (rs2367707) (human)
RGD
PMID:30634928
RGD:39457687
NCBI chr14:18,577,620...18,591,395
Ensembl chr14:18,576,355...18,591,394
G
Foxp3
forkhead box P3
susceptibility
ISO
DNA:polymorphism:promoter:-924A>G(human)
RGD
PMID:29020928
RGD:38501101
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
G
Gbe1
1,4-alpha-glucan branching enzyme 1
ISO
DNA:SNP:intron:rs2307058 (human)
RGD
PMID:28355295
RGD:18337291
NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
G
Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
associated with GSTT1 null deletion; DNA:deletion: :
RGD
PMID:20297661
RGD:4140932
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:20297661
RGD:4140932
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
G
Havcr2
hepatitis A virus cellular receptor 2
ISO
RGD
PMID:21382414
RGD:5135524
NCBI chr10:31,561,838...31,590,624
Ensembl chr10:31,561,895...31,588,943
G
Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:32369456
RGD:39939073
NCBI chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
G
Il13
interleukin 13
ISO
mRNA:increased expression:Leukocytes, Mononuclear
RGD
PMID:10608794
RGD:4145649
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
G
Il15
interleukin 15
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11742275
RGD:4990461
NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
G
Il18
interleukin 18
ISO
protein:increased expression:serum
RGD
PMID:15955140
RGD:4889836
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
G
Il1a
interleukin 1 alpha
ISO
RGD
PMID:9176116
RGD:4142835
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
G
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 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Il1rl1
interleukin 1 receptor-like 1
ISO
RGD
PMID:28128217
RGD:39938965
NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
G
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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
G
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 7:2,710,609...2,712,723
Ensembl chr 7:2,710,609...2,712,723
G
Il27ra
interleukin 27 receptor subunit alpha
ISO
RGD
PMID:15749890
RGD:5128486
NCBI chr19:25,151,835...25,163,995
Ensembl chr19:25,149,897...25,164,086
G
Il33
interleukin 33
ISO
RGD
PMID:28128217
RGD:39938965
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
G
Il4
interleukin 4
severity
ISO
RGD
PMID:20832364
RGD:5128550
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
G
Il4r
interleukin 4 receptor
ISO
protein:decreased expression:serum
RGD
PMID:21251883
RGD:5128510
NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
G
Il6
interleukin 6
ISO
RGD
PMID:20624776
RGD:4143257
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Il6r
interleukin 6 receptor
ISO
protein:decreased expression:T cell
RGD
PMID:20019339
RGD:5128632
NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
G
Irf1
interferon regulatory factor 1
ISO
RGD
PMID:11083808
RGD:5128719
NCBI chr10:39,109,530...39,116,532
Ensembl chr10:39,109,522...39,116,531
G
Itih4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:urine
RGD
PMID:29636444
RGD:40903003
NCBI chr16:6,970,367...6,985,538
Ensembl chr16:6,970,342...6,985,579
G
Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
protein:decreased phosphorylation:macrophage, nucleus
RGD
PMID:19737230
RGD:4889999
NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
G
Lta
lymphotoxin alpha
susceptibility
ISO
DNA:polymorphism:intron:252G>A (human)
RGD
PMID:20180006
RGD:4143234
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
G
Mbl2
mannose binding lectin 2
ISO
DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:19199550
RGD:4889452
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
G
Mif
macrophage migration inhibitory factor
susceptibility
ISO
DNA:SNP: :rs755622 (human)
RGD
PMID:20439102
RGD:4891004
NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
G
Mir30a
microRNA 30a
disease_progression
ISO
RGD
PMID:25866116
RGD:35668864
NCBI chr 9:29,542,635...29,542,705
Ensembl chr 9:29,542,635...29,542,705
G
Mmp3
matrix metallopeptidase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
G
Mmp7
matrix metallopeptidase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chr 8:5,893,253...5,900,965
Ensembl chr 8:5,893,249...5,901,049
G
Mmp8
matrix metallopeptidase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chr 8:5,768,808...5,777,741
Ensembl chr 8:5,768,811...5,778,702
G
Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:16982845
RGD:5130746
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
G
Nat2
N-acetyltransferase 2
susceptibility
ISO
RGD
PMID:20297661
RGD:4140932
NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
G
Nod2
nucleotide-binding oligomerization domain containing 2
susceptibility
ISO
DNA:SNPs:CDs:p.P268S, R702W, A725G (human)
RGD
PMID:18419343
RGD:5131510
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
G
Nos2
nitric oxide synthase 2
ISO
DNA:SNPs:multiple (human)
RGD
PMID:19575238
RGD:4144122
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
G
Pdcd1
programmed cell death 1
treatment
ISO
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793 , PMID:23661793
RGD:40818418 , RGD:40818418
NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
G
Pdcd1lg2
programmed cell death 1 ligand 2
ISO
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793
RGD:40818418
NCBI chr 1:247,562,202...247,629,279
Ensembl chr 1:247,562,202...247,627,193
G
Plaur
plasminogen activator, urokinase receptor
severity
ISO
RGD
PMID:18359089
RGD:6483832
NCBI chr 1:81,328,171...81,344,954
Ensembl chr 1:81,328,183...81,344,708
G
Ptpn22
protein tyrosine phosphatase, non-receptor type 22
ISO
DNA:SNPs:cds:788G>A, 1858C>T (human)
RGD
PMID:19563523
RGD:6484723
NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
G
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
G
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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
G
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 chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
G
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 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
G
Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
associated with HIV Infections;
RGD
PMID:21843574
RGD:6482248
NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
G
Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:9062973
RGD:5147851
NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
G
Tlr1
toll-like receptor 1
ISO
mRNA:increased expression:blood
RGD
PMID:16493059
RGD:4889525
NCBI chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991
G
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 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
G
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 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
G
Tlr9
toll-like receptor 9
ISO
DNA:snps:multiple (human)
RGD
PMID:19771452
RGD:5130704
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
G
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 chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
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 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
G
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 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
G
Gc
GC, vitamin D binding protein
ISO
RGD
PMID:2737695
RGD:5509933
NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
G
Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:14567831
RGD:13702910
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
G
RT1-Ba
RT1 class II, locus Ba
ISO
DNA:polymorphisms, haplotypes:multiple
RGD
PMID:17559688
RGD:5147792
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
G
RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms, haplotypes:multiple
RGD
PMID:17559688
RGD:5147792
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
G
RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphisms, haplotypes:multiple
RGD
PMID:17559688
RGD:5147792
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
G
Cd209
CD209 molecule
ISO
protein:increased expression:left cardiac atrium, dendritic cell (human)
RGD
PMID:30261069
RGD:41410815
NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
G
Cd36
CD36 molecule
ISO
mRNA:decreased expression:blood, mononuclear cell
RGD
PMID:16741676
RGD:6893529
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
G
Fcna
ficolin A
ISO
ClinVar Annotator: match by term: Rheumatic heart disease
ClinVar
NCBI chr 3:2,850,006...2,853,230
Ensembl chr 3:2,849,984...2,853,272
G
Gapdh
glyceraldehyde-3-phosphate dehydrogenase
IEP
RGD
PMID:26823728
RGD:13792679
NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
G
Igf1
insulin-like growth factor 1
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
G
Il10
interleukin 10
no_association
ISO
RGD
PMID:16043936
RGD:1598626
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
G
Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
G
RT1-Ba
RT1 class II, locus Ba
ISO
DNA:polymorphisms, haplotypes:multiple
RGD
PMID:17559688
RGD:5147792
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
G
RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms:cds:HLA-DQB1*08 (human)
RGD
PMID:17578051
RGD:5147630
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism:cds:HLA-DRB1*13 (human)
RGD
PMID:17578051 , PMID:16426242
RGD:5147630 , RGD:5147643
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
G
Icam1
intercellular adhesion molecule 1
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
G
Sele
selectin E
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
G
Vcam1
vascular cell adhesion molecule 1
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
G
Sting1
stimulator of interferon response cGAMP interactor 1
severity
ISO
RGD
PMID:31141689
RGD:39128194
NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
G
Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8186310
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
G
Cd36
CD36 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15690042
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
G
Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27737899
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
G
Il10
interleukin 10
treatment
IDA
RGD
PMID:23993644
RGD:7364979
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
G
Il2
interleukin 2
ISO
RGD
PMID:21603642
RGD:5147906
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
G
Il4
interleukin 4
susceptibility
ISO
DNA:SNP:promoter:-542C>T (human)
RGD
PMID:18422436
RGD:7829791
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
G
Irak3
interleukin-1 receptor-associated kinase 3
treatment
ISO
RGD
PMID:28954388
RGD:34888230
NCBI chr 7:64,922,830...64,982,224
Ensembl chr 7:64,923,615...64,982,281
G
Ltf
lactotransferrin
ISO
RGD
PMID:10030017
RGD:7243953
NCBI chr 8:119,290,416...119,313,261
Ensembl chr 8:119,290,416...119,313,261
G
Tlr2
toll-like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23661603
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
G
Xrn1
5'-3' exoribonuclease 1
susceptibility
ISO
DNA:snp:intron:c.2339+1477G>A (rs7643377) (human)
RGD
PMID:24847357
RGD:11530009
NCBI chr 8:103,774,125...103,883,563
Ensembl chr 8:103,774,358...103,878,899
G
Akt1
AKT serine/threonine kinase 1
treatment
ISO
RGD
PMID:23613163
RGD:38676477
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
G
Cd86
CD86 molecule
ISO
protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse)
RGD
PMID:20949109
RGD:4892562
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
G
Cftr
CF transmembrane conductance regulator
ISO
RGD
PMID:28289144
RGD:36049750
NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
G
Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:10228098
RGD:11039478
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
G
Fn1
fibronectin 1
IDA
RGD
PMID:12065530
RGD:7205474
NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
G
Ifnar1
interferon alpha and beta receptor subunit 1
susceptibility
ISO
RGD
PMID:19603548 , PMID:19603548
RGD:5490273 , RGD:5490273
NCBI chr11:31,640,407...31,666,839
Ensembl chr11:31,640,407...31,664,061
G
Il10
interleukin 10
ISO
mRNA, protein:increased expression:lung
RGD
PMID:22940620
RGD:7364825
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
G
Il15
interleukin 15
ISO
RGD
PMID:18390740
RGD:4996474
NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
G
Il1b
interleukin 1 beta
ISO
RGD
PMID:20065029
RGD:4142828
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Il33
interleukin 33
ISO
mRNA:increased expression:lung:
RGD
PMID:28401938
RGD:40400699
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
G
Nod2
nucleotide-binding oligomerization domain containing 2
ISO
RGD
PMID:20493961
RGD:5131444
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
G
Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
protein:increased expression:lung (mouse)
RGD
PMID:28663335
RGD:13432209
NCBI chr 1:48,880,015...50,069,998
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
severity
ISO
mRNA:increased expression:lung associated with influenza
RGD
PMID:31782850 , PMID:31782850
RGD:39131288 , RGD:39131288
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
G
Il17a
interleukin 17A
ISO
RGD
PMID:24614654
RGD:9068425
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
G
Il18
interleukin 18
treatment
ISO
RGD
PMID:21536791
RGD:8655921
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
G
Il33
interleukin 33
treatment
ISO
mRNA,protein:increased expression:skin
RGD
PMID:23892028 , PMID:23892028
RGD:40400893 , RGD:40400893
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
G
Serpinf1
serpin family F member 1
severity
ISO
RGD
PMID:25515118
RGD:36174009
NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
G
Cd86
CD86 molecule
ISO
associated with Encephalomyelitis, Experimental Autoimmune; protein:increased expression:spleen, dendritic cell (mouse)
RGD
PMID:16861672
RGD:4892553
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
G
Il17a
interleukin 17A
ISO
protein:increased expression:serum (mouse)
RGD
PMID:22384827
RGD:8698662
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
G
Tlr2
toll-like receptor 2
severity
ISO
RGD
PMID:19179417
RGD:7240559
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
G
Tnf
tumor necrosis factor
ISO
associated with Otitis Media
RGD
PMID:8302123
RGD:11554174
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
Clec4m
C-type lectin domain family 4 member M
severity
ISO
RGD
PMID:16134084
RGD:39938986
NCBI chr12:2,817,633...2,826,303
Ensembl chr12:2,816,065...2,826,378
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:20385761
RGD:39938865
NCBI chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
G
Ifng
interferon gamma
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
G
Il6
interleukin 6
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Irak3
interleukin-1 receptor-associated kinase 3
severity
ISO
RGD
PMID:22492852
RGD:35316076
NCBI chr 7:64,922,830...64,982,224
Ensembl chr 7:64,923,615...64,982,281
G
Lamp1
lysosomal-associated membrane protein 1
ISO
protein:increased expression:lung, natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr16:81,689,576...81,714,341
Ensembl chr16:81,689,335...81,714,419
G
Ncr1
natural cytotoxicity triggering receptor 1
severity
ISO
RGD
PMID:21887255
RGD:40818252
NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
G
Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:25624454
RGD:40818422
NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
G
Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
treatment
ISO
associated with immunodeficiency 14
RGD
PMID:30093657
RGD:40890269
NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
G
Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
severity
ISO
RGD
PMID:17322108
RGD:38599154
NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:9062973
RGD:5147851
NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
G
Vdr
vitamin D receptor
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
G
Ager
advanced glycosylation end product-specific receptor
severity
ISO
RGD
PMID:22698798
RGD:6767307
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
G
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 chr20:4,140,184...4,156,365
Ensembl chr20:4,141,878...4,154,978
G
Cbs
cystathionine beta synthase
severity
ISO
protein:increased expression:macrophages (mouse)
RGD
PMID:31992699 , PMID:31992699
RGD:40903052 , RGD:40903052
NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
G
Ccl1
C-C motif chemokine ligand 1
susceptibility
ISO
DNA:SNP: :rs159294, rs210837, rs10491110 (human)
RGD
PMID:19057661
RGD:4891408
NCBI chr10:69,534,976...69,537,836
Ensembl chr10:69,534,933...69,537,882
G
Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
G
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 chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
G
Cd209
CD209 molecule
susceptibility
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:15564514 PMID:15838506 PMID:16379498
NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
G
Cd209c
CD209c molecule
ISO
RGD
PMID:21454357 , PMID:18167547
RGD:5131181 , RGD:5131186
NCBI chr12:2,837,991...2,846,709
Ensembl chr12:2,838,128...2,843,772
G
Cd274
CD274 molecule
ISO
mRNA, protein:increased expression:blood, neutrophil
RGD
PMID:21509782
RGD:41412173
NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
G
Cd86
CD86 molecule
ISO
protein:increased expression:lung (mouse)
RGD
PMID:18292558
RGD:4892329
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
G
Cebpb
CCAAT/enhancer binding protein beta
ISO
mRNA:increased expression:lung, spleen (mouse)
RGD
PMID:28558034
RGD:40903038
NCBI chr 3:164,424,502...164,425,933
Ensembl chr 3:164,424,515...164,425,910
G
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 chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
G
Cish
cytokine inducible SH2-containing protein
susceptibility
ISO
ClinVar Annotator: match by term: Tuberculosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:20484391
NCBI chr 8:116,054,547...116,059,494
Ensembl chr 8:116,054,465...116,060,723
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Coro1a
coronin 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16040207
NCBI chr 1:198,123,883...198,128,890
Ensembl chr 1:198,123,884...198,128,857
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:serum
RGD
PMID:19281538
RGD:5135308
NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
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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 1:83,163,103...83,236,615
Ensembl chr 1:83,163,079...83,236,615
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Ereg
epiregulin
susceptibility
ISO
DNA:SNP:intron: (rs7675690) (human)
RGD
PMID:22170233
RGD:39457686
NCBI chr14:18,577,620...18,591,395
Ensembl chr14:18,576,355...18,591,394
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Has1
hyaluronan synthase 1
ISO
RGD
PMID:19876387
RGD:9588638
NCBI chr 1:59,720,612...59,732,409
Ensembl chr 1:59,720,612...59,732,409
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Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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Ifng
interferon gamma
susceptibility
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:10663562 PMID:11053629 PMID:12788577 PMID:18414898
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Ifngr1
interferon gamma receptor 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against ClinVar Annotator: match by term: Bcg infection, tuberculoid, antibiotic-responsive
CTD OMIM ClinVar
PMID:9389728 PMID:12516030 PMID:16690980 PMID:19488747 , PMID:19575238
RGD:4144122
NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
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Il15
interleukin 15
ISO
mRNA:altered expression:lung, spleen
RGD
PMID:16367949
RGD:4987456
NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
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Il22
interleukin 22
ISO
RGD
PMID:21767990
RGD:5147402
NCBI chr 7:61,236,037...61,240,502
Ensembl chr 7:61,236,037...61,240,502
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Il33
interleukin 33
ISO
associated with Pleural Effusion;protein:increased expression:pleural biopsy
RGD
PMID:25755791
RGD:40400701
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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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 7:64,922,830...64,982,224
Ensembl chr 7:64,923,615...64,982,281
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Irgm
immunity-related GTPase M
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr10:34,213,885...34,221,968
Ensembl chr10:34,213,936...34,221,928
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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 1:73,306,564...73,345,009
Ensembl chr 1:73,307,569...73,344,955
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Klrk1
killer cell lectin like receptor K1
treatment
ISO
RGD
PMID:16619285 , PMID:23922903
RGD:39018558 , RGD:39128143
NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
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LOC100364500
RT1 class I, locus CE11-like
susceptibility
ISO
associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-A31
RGD
PMID:19030725
RGD:36049809
NCBI chr20:2,704,153...2,707,111
Ensembl chr20:2,704,148...2,707,120
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Mapkapk3
MAPK activated protein kinase 3
ISO
ClinVar Annotator: match by term: Tuberculosis, susceptibility to
ClinVar
PMID:20484391
NCBI chr 8:116,012,126...116,046,012
Ensembl chr 8:116,012,121...116,045,954
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Nrg1
neuregulin 1
susceptibility
ISO
DNA:SNP, haplotype: (rs16879814)
RGD
PMID:25919455
RGD:39456091
NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:27865385
RGD:41412174
NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
RGD
PMID:30514491
RGD:38599199
NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
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RT1-Ba
RT1 class II, locus Ba
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26829749
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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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 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by
ClinVar CTD OMIM
PMID:16103355 PMID:16597321 PMID:25741868 , PMID:19863441 , PMID:15118671
RGD:5684931 , RGD:1331525
NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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Sp110
SP110 nuclear body protein
susceptibility
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:16803959 PMID:16816019 PMID:17149599 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 9:92,593,909...92,618,867
Ensembl chr 9:92,593,910...92,616,165
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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 9:92,618,088...92,665,431
Ensembl chr 9:92,618,352...92,665,430
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:15863395
RGD:1581371
NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29791904
RGD:39128196
NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
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Tirap
TIR domain containing adaptor protein
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against
CTD OMIM ClinVar
PMID:16991088 PMID:17322885 PMID:18305471
NCBI chr 8:36,382,029...36,399,625
Ensembl chr 8:36,385,353...36,388,224
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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 chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991
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Tlr2
toll-like receptor 2
susceptibility
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:14979495 PMID:16081826 PMID:22992740 PMID:25741868
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:12218133
RGD:4144821
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Tlr6
toll-like receptor 6
susceptibility
ISO
DNA:missense mutations:cds:multiple (human)
RGD
PMID:18091991
RGD:7246918
NCBI chr14:45,024,351...45,041,188
Ensembl chr14:45,024,351...45,046,446
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:20537163
RGD:4143229
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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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 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30202016
NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
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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 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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