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
narrow_synonym: Enterococcus faecalis infection
primary_id: MESH:D016908
xref: EFO:0000780
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Ear1
eosinophil-associated, ribonuclease A family, member 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21696142
NCBI chr14:44,056,222...44,057,096
Ensembl chr14:44,056,222...44,112,974
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Icos
inducible T cell co-stimulator
IDA
RGD
PMID:12421962
RGD:1624276
NCBI chr 1:60,999,909...61,039,481
Ensembl chr 1:61,017,086...61,039,479
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Tlr2
toll-like receptor 2
IMP
RGD
PMID:18354210
RGD:7240560
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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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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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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Slc11a1
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
susceptibility
ISO
ClinVar Annotator: match by term: Buruli ulcer, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:16395392
NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
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Il23a
interleukin 23, alpha subunit p19
severity
IMP
RGD
PMID:26455347
RGD:11097134
NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621
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Il33
interleukin 33
treatment severity
IEP IMP
RGD
PMID:32156806 PMID:32156806
RGD:40400894 , RGD:40400894
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Il27
interleukin 27
ISO
associated with diarrhea;protein:increased expression:blood��serum, feces (human)
RGD
PMID:29140433
RGD:126790495
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Marco
macrophage receptor with collagenous structure
exacerbates
IMP
RGD
PMID:20810988
RGD:41412193
NCBI chr 1:120,402,267...120,432,753
Ensembl chr 1:120,402,267...120,432,753
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Comt
catechol-O-methyltransferase
severity
ISO
DNA:missense mutation:cds: (rs4680) (human)
RGD
PMID:20184498
RGD:8662334
NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602
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Cxcl15
C-X-C motif chemokine ligand 15
ISO
DNA:SNP:promoter:g.-251T>A (human)
RGD
PMID:17709521
RGD:150523787
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Tlr2
toll-like receptor 2
IEP
mRNA:increased expression:footpad:
RGD
PMID:21205004
RGD:7794752
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
IEP
mRNA:decreased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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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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Gsn
gelsolin
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:9142022
RGD:329333022
NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904
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Otulin
OTU deubiquitinase with linear linkage specificity
ISO
ClinVar Annotator: match by term: Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection
ClinVar OMIM
PMID:25741868 PMID:27559085 PMID:28492532 PMID:35587511
NCBI chr15:27,606,005...27,630,793
Ensembl chr15:27,542,721...27,630,779
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Irf1
interferon regulatory factor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 117
OMIM ClinVar
NCBI chr11:53,660,841...53,669,200
Ensembl chr11:53,660,841...53,669,200
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Bclaf1
BCL2-associated transcription factor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr10:20,187,897...20,218,390
Ensembl chr10:20,188,215...20,220,359
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Ifngr1
interferon gamma receptor 1
susceptibility
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar OMIM
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:16195661 PMID:16690980 PMID:18171304 PMID:18593809 PMID:19488747 PMID:19880337 PMID:19880857 PMID:20015550 PMID:21266457 PMID:21448974 PMID:24033266 PMID:24199198 PMID:25216720 PMID:25592983 PMID:25741868 PMID:26060819 PMID:26173802 PMID:26343451 PMID:27356097 PMID:28492532 PMID:28902581 More...
NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977
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Ifngr2
interferon gamma receptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr16:91,343,947...91,360,895
Ensembl chr16:91,343,960...91,362,511
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Il12rb1
interleukin 12 receptor, beta 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:19460324 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 8:71,261,005...71,276,186
Ensembl chr 8:71,261,093...71,274,068
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Il20ra
interleukin 20 receptor, alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr10:19,587,421...19,635,801
Ensembl chr10:19,588,318...19,635,801
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Il22ra2
interleukin 22 receptor, alpha 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr10:19,497,776...19,510,429
Ensembl chr10:19,497,746...19,510,429
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Map3k5
mitogen-activated protein kinase kinase kinase 5
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr10:19,809,847...20,018,496
Ensembl chr10:19,810,218...20,018,499
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Map7
microtubule-associated protein 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr10:20,024,666...20,157,336
Ensembl chr10:20,024,217...20,157,336
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Mtfr2
mitochondrial fission regulator 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr10:20,223,491...20,237,415
Ensembl chr10:20,223,516...20,237,050
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Pde7b
phosphodiesterase 7B
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr10:20,272,798...20,600,824
Ensembl chr10:20,273,750...20,600,824
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Pex7
peroxisomal biogenesis factor 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr10:19,735,836...19,783,420
Ensembl chr10:19,729,646...19,783,435
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Slc35d3
solute carrier family 35, member D3
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr10:19,723,662...19,728,195
Ensembl chr10:19,723,662...19,727,205
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1700019D03Rik
RIKEN cDNA 1700019D03 gene
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 1:52,961,483...53,031,816
Ensembl chr 1:52,961,483...53,059,338
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Ankar
ankyrin and armadillo repeat containing
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 1:72,682,139...72,739,743
Ensembl chr 1:72,682,139...72,739,738
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Asnsd1
asparagine synthetase domain containing 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 1:53,383,776...53,391,911
Ensembl chr 1:53,383,776...53,391,911 Ensembl chr 1:53,383,776...53,391,911
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Col3a1
collagen, type III, alpha 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866
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Col5a2
collagen, type V, alpha 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442
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Gls
glutaminase
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 1:52,202,608...52,274,168
Ensembl chr 1:52,202,607...52,272,391
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Hibch
3-hydroxyisobutyryl-Coenzyme A hydrolase
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 1:52,884,197...52,960,145
Ensembl chr 1:52,884,088...52,960,145
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Inpp1
inositol polyphosphate-1-phosphatase
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 1:52,824,584...52,856,847
Ensembl chr 1:52,824,586...52,856,847
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Mfsd6
major facilitator superfamily domain containing 6
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 1:52,695,463...52,766,495
Ensembl chr 1:52,695,445...52,766,621
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Mstn
myostatin
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 1:53,100,799...53,107,238
Ensembl chr 1:53,100,799...53,107,238
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Nab1
Ngfi-A binding protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 1:52,494,146...52,539,553
Ensembl chr 1:52,496,453...52,539,838
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Nemp2
nuclear envelope integral membrane protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 1:52,669,850...52,691,078
Ensembl chr 1:52,669,862...52,691,078
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Ormdl1
ORM1-like 1 (S. cerevisiae)
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 1:53,336,254...53,349,404
Ensembl chr 1:53,336,254...53,349,468
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Osgepl1
O-sialoglycoprotein endopeptidase-like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 1:53,352,070...53,365,502
Ensembl chr 1:53,352,783...53,365,502
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Pms1
postmeiotic segregation increased 1 (S. cerevisiae)
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 1:53,225,794...53,336,190
Ensembl chr 1:53,228,346...53,336,177
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Slc40a1
solute carrier family 40 (iron-regulated transporter), member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 1:45,947,230...45,965,690
Ensembl chr 1:45,947,228...45,965,683
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Stat1
signal transducer and activator of transcription 1
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Immunodeficiency 31B | ClinVar Annotator: match by term: Mycobacterial and viral infections, susceptibility to, autosomal recessive
OMIM ClinVar
PMID:9536098 PMID:12590259 PMID:16199547 PMID:16585605 PMID:17576681 PMID:19436109 PMID:20841510 PMID:21714643 PMID:21727188 PMID:22195034 PMID:22208278 PMID:22651901 PMID:22730530 PMID:22847544 PMID:23245795 PMID:23403048 PMID:23534974 PMID:23541320 PMID:23585529 PMID:23709754 PMID:24033266 PMID:24188975 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25326637 PMID:25367169 PMID:25662309 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26467763 PMID:26479788 PMID:26494717 PMID:26513235 PMID:26604104 PMID:26732859 PMID:26743090 PMID:26938784 PMID:26948078 PMID:27063510 PMID:27114460 PMID:27117246 PMID:27146670 PMID:27379765 PMID:27577878 PMID:27808400 PMID:28011069 PMID:28161409 PMID:28258222 PMID:28367431 PMID:28427548 PMID:28492532 PMID:28597685 PMID:28601685 PMID:28622416 PMID:28753426 PMID:28815025 PMID:28859974 PMID:29111217 PMID:29317535 PMID:30030262 PMID:30131873 PMID:30442829 PMID:31114772 PMID:31354696 PMID:31362757 PMID:31367980 PMID:31448411 PMID:31677808 PMID:31686315 PMID:32135276 PMID:32506361 PMID:32582194 PMID:32603902 PMID:32888943 PMID:33096415 PMID:33225392 PMID:33679782 PMID:34093558 PMID:34114647 PMID:34134972 PMID:34718945 PMID:35126392 PMID:35960392 PMID:35976469 PMID:36336768 More...
NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
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Stat4
signal transducer and activator of transcription 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:22651901 PMID:28492532
NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
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Wdr75
WD repeat domain 75
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 1:45,834,313...45,862,798
Ensembl chr 1:45,834,326...45,862,779
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Abcd1
ATP-binding cassette, sub-family D member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,760,203...72,782,140
Ensembl chr X:72,760,203...72,782,140
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Arhgap4
Rho GTPase activating protein 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,937,958...72,954,945
Ensembl chr X:72,935,048...72,965,476
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Atp2b3
ATPase, Ca++ transporting, plasma membrane 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,546,356...72,632,267
Ensembl chr X:72,546,692...72,614,611
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Atp6ap1
ATPase, H+ transporting, lysosomal accessory protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,340,753...73,348,297
Ensembl chr X:73,340,703...73,348,327
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Avpr2
arginine vasopressin receptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,935,371...72,938,034
Ensembl chr X:72,935,708...72,939,108
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Bcap31
B cell receptor associated protein 31
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,729,784...72,761,464
Ensembl chr X:72,729,784...72,759,781
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Bgn
biglycan
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,527,207...72,539,542
Ensembl chr X:72,527,208...72,539,539
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Brcc3
BRCA1/BRCA2-containing complex, subunit 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:74,460,234...74,499,307
Ensembl chr X:74,460,234...74,497,607
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Ccnq
cyclin Q
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr11:78,641,332...78,642,555
Ensembl chr11:78,641,332...78,642,555
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Cmc4
C-X9-C motif containing 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:74,448,452...74,460,190
Ensembl chr X:74,448,452...74,460,190
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Ctag2l2
CTAG2 like 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,784,533...73,785,794
Ensembl chr X:73,784,533...73,785,794
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Dkc1
dyskeratosis congenita 1, dyskerin
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:74,139,460...74,153,382
Ensembl chr X:74,139,460...74,153,383
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Dnase1l1
deoxyribonuclease 1-like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,316,823...73,325,939
Ensembl chr X:73,316,823...73,325,943
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Dusp9
dual specificity phosphatase 9
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,682,995...72,687,120
Ensembl chr X:72,683,025...72,687,120
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Emd
emerin
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,298,297...73,305,188
Ensembl chr X:73,298,293...73,305,154
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F8
coagulation factor VIII
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:74,213,950...74,426,342
Ensembl chr X:74,216,321...74,426,221
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F8a
factor 8-associated gene A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,271,912...72,274,401
Ensembl chr X:72,271,897...72,274,401
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Fam3a
FAM3 metabolism regulating signaling molecule A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,427,816...73,436,856
Ensembl chr X:73,428,325...73,436,878
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Fam50a
family with sequence similarity 50, member A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,356,589...73,363,761
Ensembl chr X:73,356,639...73,363,755
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Flna
filamin, alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,267,067...73,293,787
Ensembl chr X:73,267,067...73,293,426
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Fundc2
FUN14 domain containing 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:74,426,005...74,440,764
Ensembl chr X:74,426,005...74,440,065
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G6pdx
glucose-6-phosphate dehydrogenase X-linked
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,453,089...73,472,486
Ensembl chr X:73,453,089...73,472,800
G
Gab3
growth factor receptor bound protein 2-associated protein 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:74,032,151...74,128,511
Ensembl chr X:74,010,449...74,129,064
G
Gdi1
GDP dissociation inhibitor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,348,618...73,355,473
Ensembl chr X:73,348,604...73,355,468
G
H2ab2
H2A.B variant histone 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:115,590,875...115,591,222
Ensembl chr X:115,590,875...115,591,222
G
H2ab3
H2A.B variant histone 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:119,222,279...119,222,923
Ensembl chr X:119,222,445...119,222,792
G
Haus7
HAUS augmin-like complex, subunit 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,480,921...72,502,635
Ensembl chr X:72,480,921...72,502,650
G
Hcfc1
host cell factor C1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,986,400...73,011,430
Ensembl chr X:72,986,398...73,009,963
G
Idh3g
isocitrate dehydrogenase 3 (NAD+), gamma
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,822,569...72,830,471
Ensembl chr X:72,822,569...72,830,503
G
Ikbkg
inhibitor of kappaB kinase gamma
ISO
ClinVar Annotator: match by term: Immunodeficiency 33 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8169255 PMID:11047757 PMID:11179023 PMID:11484156 PMID:11590134 PMID:12459250 PMID:15229184 PMID:15356572 PMID:15577852 PMID:15833888 PMID:16532398 PMID:16818673 PMID:16950813 PMID:18179816 PMID:18222329 PMID:20529958 PMID:25068423 PMID:25741868 PMID:28993958 PMID:29534156 PMID:30422821 PMID:31965418 PMID:33224153 More...
NCBI chr X:73,436,883...73,498,013
Ensembl chr X:73,436,896...73,497,460
G
Il9r
interleukin 9 receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr11:32,137,544...32,155,283
Ensembl chr11:32,137,541...32,150,279
G
Irak1
interleukin-1 receptor-associated kinase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,057,520...73,067,527
Ensembl chr X:73,057,520...73,067,524
G
L1cam
L1 cell adhesion molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,897,384...72,924,843
Ensembl chr X:72,897,384...72,939,711
G
Lage3
L antigen family, member 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,395,768...73,397,224
Ensembl chr X:73,394,882...73,397,224
G
LOC107963956
green (M) opsin gene upstream regulatory region
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,166,107...73,171,117
G
Mecp2
methyl CpG binding protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,070,198...73,129,296
Ensembl chr X:73,070,198...73,129,296
G
Mir664
microRNA 664
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr 1:184,975,172...184,975,240
Ensembl chr 1:184,975,172...184,975,240
G
Mir718
microRNA 718
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,067,455...73,067,542
Ensembl chr X:73,067,455...73,067,542
G
Mpp1
membrane protein, palmitoylated
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:74,153,339...74,174,622
Ensembl chr X:74,153,339...74,174,622
G
Mtcp1
mature T cell proliferation 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:74,454,048...74,460,190
Ensembl chr X:74,454,050...74,460,194
G
Naa10
N(alpha)-acetyltransferase 10, NatA catalytic subunit
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,960,476...72,965,550
Ensembl chr X:72,960,479...72,965,550
G
Opn1mw
opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,171,072...73,194,362
Ensembl chr X:73,171,070...73,194,366
G
Pdzd4
PDZ domain containing 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,836,963...72,868,649
Ensembl chr X:72,836,965...72,868,575
G
Plxna3
plexin A3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,372,644...73,388,295
Ensembl chr X:73,372,672...73,388,295
G
Plxnb3
plexin B3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,800,564...72,816,116
Ensembl chr X:72,800,696...72,816,120
G
Pnck
pregnancy upregulated non-ubiquitously expressed CaM kinase
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,699,598...72,703,723
Ensembl chr X:72,699,600...72,703,723
G
Rab39b
RAB39B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:74,615,651...74,621,837
Ensembl chr X:74,615,652...74,621,837
G
Renbp
renin binding protein
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,965,727...72,974,408
Ensembl chr X:72,965,727...72,974,456
G
Rpl10
ribosomal protein L10
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,314,463...73,316,741
Ensembl chr X:73,314,418...73,316,741
G
Slc10a3
solute carrier family 10 (sodium/bile acid cotransporter family), member 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,412,823...73,416,955
Ensembl chr X:73,412,823...73,416,955
G
Slc6a8
solute carrier family 6 (neurotransmitter transporter, creatine), member 8
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,716,739...72,726,108
Ensembl chr X:72,716,756...72,726,108
G
Smim9
small integral membrane protein 9
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:74,189,663...74,207,362
Ensembl chr X:74,189,662...74,207,376
G
Snora70
small nucleolar RNA, H/ACA box 70
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,316,098...73,316,226
Ensembl chr X:73,316,090...73,316,226
G
Spry3
sprouty RTK signaling antagonist 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
G
Srpk3
serine/arginine-rich protein specific kinase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,818,011...72,822,531
Ensembl chr X:72,818,011...72,822,531
G
Ssr4
signal sequence receptor, delta
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,830,778...72,834,432
Ensembl chr X:72,830,634...72,834,436
G
Tafazzin
tafazzin, phospholipid-lysophospholipid transacylase
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,325,498...73,340,182
Ensembl chr X:73,325,518...73,333,757
G
Tex28
testis expressed 28
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,194,515...73,211,444
Ensembl chr X:73,194,550...73,211,444
G
Tktl1
transketolase-like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,220,865...73,252,104
Ensembl chr X:73,220,865...73,252,106
G
Tmlhe
trimethyllysine hydroxylase, epsilon
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
G
Trex2
three prime repair exonuclease 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:72,477,311...72,478,949
Ensembl chr X:72,477,311...72,478,950
G
Ubl4a
ubiquitin-like 4A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:73,409,324...73,412,154
Ensembl chr X:73,409,324...73,416,824
G
Vamp7
vesicle-associated membrane protein 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
G
Vbp1
von Hippel-Lindau binding protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:74,557,903...74,578,552
Ensembl chr X:74,557,905...74,578,548
G
Cybb
cytochrome b-245, beta polypeptide
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
OMIM CTD ClinVar
PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:9536098 PMID:9585602 PMID:10089913 PMID:10914676 PMID:11435314 PMID:12139950 PMID:17293536 PMID:17576681 PMID:18546332 PMID:19483051 PMID:21278736 PMID:23193493 PMID:24276928 PMID:25741868 PMID:28492532 PMID:29560547 PMID:30470980 More...
NCBI chr X:9,301,493...9,354,005
Ensembl chr X:9,301,491...9,354,010
G
9430015G10Rik
RIKEN cDNA 9430015G10 gene
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:156,194,455...156,211,720
Ensembl chr 4:156,194,439...156,211,722
G
Acap3
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,976,332...155,991,708
Ensembl chr 4:155,976,279...155,991,708
G
Actrt2
actin-related protein T2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:154,750,885...154,752,324
Ensembl chr 4:154,750,890...154,752,324
G
Agrn
agrin
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:156,249,747...156,281,997
Ensembl chr 4:156,249,747...156,281,945
G
Ankrd65
ankyrin repeat domain 65
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,875,432...155,884,132
Ensembl chr 4:155,874,896...155,877,659
G
Arhgef16
Rho guanine nucleotide exchange factor 16
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:154,362,926...154,384,535
Ensembl chr 4:154,362,943...154,386,133
G
Atad3a
ATPase family, AAA domain containing 3A
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,825,097...155,845,579
Ensembl chr 4:155,825,098...155,845,550
G
Aurkaip1
aurora kinase A interacting protein 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,915,709...155,917,555
Ensembl chr 4:155,915,729...155,917,587
G
B3galt6
UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:156,073,923...156,077,135
Ensembl chr 4:156,073,923...156,077,106
G
C1qtnf12
C1q and tumor necrosis factor related 12
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:156,046,769...156,051,086
Ensembl chr 4:156,046,775...156,051,086
G
Ccdc27
coiled-coil domain containing 27
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:154,111,101...154,127,202
Ensembl chr 4:154,111,096...154,127,134
G
Ccnl2
cyclin L2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,894,468...155,909,005
Ensembl chr 4:155,896,946...155,909,000
G
Cdk11b
cyclin dependent kinase 11B
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,709,303...155,734,392
Ensembl chr 4:155,709,311...155,734,395
G
Cep104
centrosomal protein 104
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:154,059,649...154,093,189
Ensembl chr 4:154,059,651...154,093,189
G
Cfap74
cilia and flagella associated protein 74
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,493,647...155,551,280
Ensembl chr 4:155,493,647...155,551,280
G
Cptp
ceramide-1-phosphate transfer protein
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,949,180...155,953,897
Ensembl chr 4:155,949,180...155,953,897
G
Dvl1
dishevelled segment polarity protein 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,931,829...155,943,760
Ensembl chr 4:155,931,859...155,943,760
G
Faap20
Fanconi anemia core complex associated protein 20
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,333,168...155,341,144
Ensembl chr 4:155,334,259...155,341,144
G
Fndc10
fibronectin type III domain containing 10
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,778,775...155,780,942
Ensembl chr 4:155,778,799...155,780,938
G
Gabrd
gamma-aminobutyric acid (GABA) A receptor, subunit delta
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,469,437...155,482,528
Ensembl chr 4:155,469,437...155,482,569
G
Gnb1
guanine nucleotide binding protein (G protein), beta 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,575,514...155,643,726
Ensembl chr 4:155,575,818...155,643,726
G
Hes5
hes family bHLH transcription factor 5
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,042,358...155,046,829
Ensembl chr 4:155,045,380...155,046,828
G
Ints11
integrator complex subunit 11
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,954,006...155,973,561
Ensembl chr 4:155,954,003...155,973,560
G
Isg15
ISG15 ubiquitin-like modifier
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
OMIM ClinVar
PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 PMID:21031596 PMID:22859821 PMID:24033266 PMID:25307056 PMID:25741868 PMID:26477546 PMID:28492532 PMID:31674007 PMID:32402279 More...
NCBI chr 4:156,283,881...156,285,275
Ensembl chr 4:156,283,912...156,285,253
G
Klhl17
kelch-like 17
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:156,313,501...156,319,314
Ensembl chr 4:156,313,792...156,319,314
G
Lrrc47
leucine rich repeat containing 47
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:154,096,260...154,105,969
Ensembl chr 4:154,096,188...154,105,970
G
Megf6
multiple EGF-like-domains 6
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:154,255,156...154,360,178
Ensembl chr 4:154,255,187...154,360,170
G
Mib2
mindbomb E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,738,925...155,753,711
Ensembl chr 4:155,739,134...155,753,655
G
Mir200a
microRNA 200a
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:156,139,353...156,139,442
Ensembl chr 4:156,139,353...156,139,442
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Mir200b
microRNA 200b
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:156,140,138...156,140,207
Ensembl chr 4:156,140,138...156,140,207
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Mir429
microRNA 429
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:156,138,362...156,138,444
Ensembl chr 4:156,138,362...156,138,444
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Mmel1
membrane metallo-endopeptidase-like 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:154,954,042...154,979,987
Ensembl chr 4:154,954,042...154,979,985
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Mmp23
matrix metallopeptidase 23
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,735,111...155,738,982
Ensembl chr 4:155,735,112...155,737,841
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Morn1
MORN repeat containing 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,167,771...155,229,964
Ensembl chr 4:155,171,034...155,229,962
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Mrpl20
mitochondrial ribosomal protein L20
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,887,335...155,893,288
Ensembl chr 4:155,887,335...155,894,432
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Mxra8
matrix-remodelling associated 8
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,924,137...155,928,559
Ensembl chr 4:155,924,137...155,928,545
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Nadk
NAD kinase
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,646,838...155,675,458
Ensembl chr 4:155,646,835...155,675,458
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Noc2l
NOC2 like nucleolar associated transcriptional repressor
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:156,319,112...156,332,078
Ensembl chr 4:156,320,376...156,332,073
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Pank4
pantothenate kinase 4
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,048,580...155,065,395
Ensembl chr 4:155,048,580...155,065,395
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Pex10
peroxisomal biogenesis factor 10
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,151,487...155,156,863
Ensembl chr 4:155,151,473...155,156,890
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Plch2
phospholipase C, eta 2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,067,572...155,148,548
Ensembl chr 4:155,067,572...155,141,241
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Plekhn1
pleckstrin homology domain containing, family N member 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:156,305,913...156,312,999
Ensembl chr 4:156,305,913...156,314,174
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Prdm16
PR domain containing 16
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:154,400,579...154,721,851
Ensembl chr 4:154,400,582...154,721,330
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Prkcz
protein kinase C, zeta
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,344,579...155,445,856
Ensembl chr 4:155,344,586...155,445,818
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Prxl2b
peroxiredoxin like 2B
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:154,980,884...154,983,522
Ensembl chr 4:154,979,961...154,983,592
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Pusl1
pseudouridylate synthase-like 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,973,314...155,976,231
Ensembl chr 4:155,972,336...155,976,238
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Rer1
retention in endoplasmic reticulum sorting receptor 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,158,566...155,170,840
Ensembl chr 4:155,158,567...155,170,839
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Rnf223
ring finger 223
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:156,214,972...156,217,874
Ensembl chr 4:156,214,970...156,217,877
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Samd11
sterile alpha motif domain containing 11
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:156,331,423...156,342,409
Ensembl chr 4:156,331,423...156,340,717
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Sdf4
stromal cell derived factor 4
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:156,077,300...156,098,067
Ensembl chr 4:156,077,329...156,098,067
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Ski
ski sarcoma viral oncogene homolog (avian)
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,238,532...155,307,536
Ensembl chr 4:155,238,532...155,307,049
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Slc35e2
solute carrier family 35, member E2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,685,873...155,707,797
Ensembl chr 4:155,685,873...155,707,797
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Smim1
small integral membrane protein 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:154,104,927...154,110,550
Ensembl chr 4:154,104,927...154,110,687
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Ssu72
Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,789,272...155,818,336
Ensembl chr 4:155,789,257...155,818,336
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Tas1r3
taste receptor, type 1, member 3
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,943,725...155,947,810
Ensembl chr 4:155,943,725...155,947,819
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Tmem240
transmembrane protein 240
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,818,336...155,825,025
Ensembl chr 4:155,819,261...155,825,021
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Tmem52
transmembrane protein 52
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,553,571...155,555,315
Ensembl chr 4:155,553,571...155,555,315
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Tmem88b
transmembrane protein 88B
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,866,048...155,870,331
Ensembl chr 4:155,866,048...155,870,331
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Tnfrsf14
tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,002,944...155,013,077
Ensembl chr 4:155,006,390...155,013,020
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Tnfrsf18
tumor necrosis factor receptor superfamily, member 18
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:156,110,779...156,113,351
Ensembl chr 4:156,110,621...156,113,352
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Tnfrsf4
tumor necrosis factor receptor superfamily, member 4
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:156,098,049...156,101,070
Ensembl chr 4:156,098,300...156,101,069
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Tprg1l
transformation related protein 63 regulated 1 like
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:154,241,942...154,246,763
Ensembl chr 4:154,241,942...154,245,123
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Trp73
transformation related protein 73
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665
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Ttc34
tetratricopeptide repeat domain 34
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:154,921,871...154,951,582
Ensembl chr 4:154,921,916...154,951,584
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Ttll10
tubulin tyrosine ligase-like family, member 10
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:156,119,292...156,135,274
Ensembl chr 4:156,119,297...156,143,871
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Ube2j2
ubiquitin-conjugating enzyme E2J 2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:156,028,270...156,044,061
Ensembl chr 4:156,028,288...156,044,061
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Vwa1
von Willebrand factor A domain containing 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:155,852,952...155,859,042
Ensembl chr 4:155,852,606...155,859,155
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Wrap73
WD repeat containing, antisense to Trp73
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 4:154,226,811...154,241,278
Ensembl chr 4:154,226,829...154,251,877
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Ifng
interferon gamma
ISO
ClinVar Annotator: match by term: Immunodeficiency 69
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:32163377
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Sppl2a
signal peptide peptidase like 2A
ISO
ClinVar Annotator: match by term: Immunodeficiency 86
OMIM ClinVar
PMID:23472171 PMID:30127434
NCBI chr 2:126,732,311...126,775,706
Ensembl chr 2:126,732,311...126,775,155
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Tbx21
T-box 21
ISO
ClinVar Annotator: match by term: Immunodeficiency 88
ClinVar OMIM
PMID:25741868
NCBI chr11:96,988,833...97,006,157
Ensembl chr11:96,988,897...97,006,157
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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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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: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: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:35954270 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: Leprosy, susceptibility to, 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 PMID:25741868 PMID:26729809 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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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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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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Ace
angiotensin I converting enzyme
ISO
associated with pulmonary sarcoidosis;protein:increased expression:blood serum (human)
RGD
PMID:15881283
RGD:40818305
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Cd36
CD36 molecule
IMP
RGD
PMID:20950462
RGD:6893545
NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
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Defb3
defensin beta 3
ISO
protein:increased expression:plasma, respiratory system fluid/secretion
RGD
PMID:11296379
RGD:4892261
NCBI chr 8:19,343,377...19,345,355
Ensembl chr 8:19,343,376...19,345,307
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Defb4
defensin beta 4
ISO
protein:increased expression:plasma, respiratory system fluid/secretion
RGD
PMID:11296379
RGD:4892261
NCBI chr 8:19,248,720...19,251,563
Ensembl chr 8:19,248,722...19,251,561
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H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
associated with pulmonary sarcoidosis
RGD
PMID:15881283
RGD:40818305
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Ifng
interferon gamma
ISO
associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung
RGD
PMID:19060451
RGD:2311490
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
DNA: missense mutations: cds: I87T; V63G DNA: mutation
RGD
PMID:21266457 PMID:15589309
RGD:6480268 , RGD:6480429
NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977
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Il22
interleukin 22
ISO
RGD
PMID:19864591
RGD:5147407
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:19864591
RGD:5147407
NCBI chr10:118,125,534...118,130,943
Ensembl chr10:118,125,534...118,130,943
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Mir146
microRNA 146
IEP
miRNA:altered expression:peritoneum, liver (mouse)
RGD
PMID:27025258
RGD:126925155
NCBI chr11:43,265,224...43,265,288
Ensembl chr11:43,265,224...43,265,288
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Ripk3
receptor-interacting serine-threonine kinase 3
ameliorates
IMP
RGD
PMID:28401933
RGD:127229921
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
IAGP
DNA:point mutation (mouse)
RGD
PMID:11821237
RGD:5684969
NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
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Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11452125
NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
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Tnfrsf8
tumor necrosis factor receptor superfamily, member 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15316035
NCBI chr 4:144,993,702...145,041,734
Ensembl chr 4:144,993,707...145,041,734
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Tnfsf8
tumor necrosis factor (ligand) superfamily, member 8
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:15316035 PMID:18941223
NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
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Cftr
cystic fibrosis transmembrane conductance regulator
susceptibility
ISO
DNA:mutations: : DNA:SNP:cds:rs113857788(p.Q1352H)(human)
RGD
PMID:19858235 PMID:18703788 PMID:23514810
RGD:4140395 , RGD:4140430 , RGD:36049751
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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Ifngr1
interferon gamma receptor 1
susceptibility
ISO
DNA:nonsense mutation ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:8960473 PMID:9389728 PMID:9536098 PMID:9806040 PMID:10192386 PMID:10480427 PMID:10811850 PMID:11583830 PMID:12516030 PMID:12712974 PMID:12743658 PMID:15589309 PMID:16195661 PMID:16199547 PMID:16690980 PMID:17251453 PMID:17513528 PMID:17576681 PMID:18171304 PMID:18593809 PMID:19488747 PMID:19880337 PMID:20015550 PMID:21266457 PMID:21448974 PMID:24033266 PMID:24199198 PMID:24220318 PMID:25216720 PMID:25741868 PMID:26060819 PMID:26173802 PMID:26343451 PMID:26642243 PMID:27356097 PMID:27868075 PMID:28492532 PMID:28744922 PMID:28902581 PMID:29249112 PMID:29572183 PMID:8960473 More...
RGD:1624283
NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977
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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 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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Il18
interleukin 18
ISO
RGD
PMID:21045270
RGD:4889546
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1r1
interleukin 1 receptor, type I
IMP
RGD
PMID:16797208
RGD:5037237
NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417
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Il20ra
interleukin 20 receptor, alpha
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chr10:19,587,421...19,635,801
Ensembl chr10:19,588,318...19,635,801
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Il22ra2
interleukin 22 receptor, alpha 2
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chr10:19,497,776...19,510,429
Ensembl chr10:19,497,746...19,510,429
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Olig3
oligodendrocyte transcription factor 3
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chr10:19,232,287...19,234,352
Ensembl chr10:19,232,281...19,234,352
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Pex7
peroxisomal biogenesis factor 7
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chr10:19,735,836...19,783,420
Ensembl chr10:19,729,646...19,783,435
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Slc35d3
solute carrier family 35, member D3
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chr10:19,723,662...19,728,195
Ensembl chr10:19,723,662...19,727,205
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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 RGD
PMID:11452125
RGD:1600087
NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
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Tnfaip3
tumor necrosis factor, alpha-induced protein 3
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chr10:18,876,658...18,891,158
Ensembl chr10:18,876,658...18,891,405
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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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Aoc3
amine oxidase, copper containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr11:101,221,432...101,230,256
Ensembl chr11:101,221,431...101,232,764
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C1rb
complement component 1, r subcomponent B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 6:124,547,389...124,558,003
Ensembl chr 6:124,547,253...124,558,130
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C3
complement component 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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F2
coagulation factor II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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Gsn
gelsolin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904
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Trf
transferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
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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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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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Cfh
complement component factor h
exacerbates
IMP ISO
RGD
PMID:26802141 PMID:26802141
RGD:108019050 , RGD:108019050
NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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Il17a
interleukin 17A
susceptibility
ISO
associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human)
RGD
PMID:20437253
RGD:4889139
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il27
interleukin 27
IEP
associated with influenza A;protein:increased expression:lung (mouse)
RGD
PMID:24408967
RGD:11556418
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Nfkbia
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
susceptibility
ISO
DNA:SNPs:enhancers: (rs3138053, rs2233406) (human) DNA:SNP: :(rs1050851) (human)
RGD
PMID:17463416 PMID:29407193
RGD:127285388 , RGD:127285391
NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432
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Tirap
toll-interleukin 1 receptor (TIR) domain-containing adaptor protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17322885
NCBI chr 9:35,095,687...35,111,587
Ensembl chr 9:35,095,847...35,111,587
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Tlr9
toll-like receptor 9
IMP
RGD
PMID:17004992
RGD:5130710
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Adam17
a disintegrin and metallopeptidase domain 17
treatment
ISO
RGD
PMID:24491581
RGD:13703038
NCBI chr12:21,373,510...21,423,633
Ensembl chr12:21,373,510...21,423,633
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Aqp4
aquaporin 4
treatment
IEP IMP
protein:increased expression:brain:
RGD
PMID:15695511 PMID:15695511
RGD:8698660 , RGD:8698660
NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
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Atm
ataxia telangiectasia mutated
ameliorates
IMP
RGD
PMID:15529270
RGD:126781748
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Camp
cathelicidin antimicrobial peptide
ISO
protein:increased expression:brain, coronal section (rat)
RGD
PMID:19879657
RGD:2316237
NCBI chr 9:109,676,445...109,678,524
Ensembl chr 9:109,676,447...109,678,685
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Cxcl1
C-X-C motif chemokine ligand 1
ISO
RGD
PMID:21109308
RGD:5134982
NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
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Cysltr1
cysteinyl leukotriene receptor 1
disease_progression
ISO
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chr X:105,617,952...105,647,329
Ensembl chr X:105,617,952...105,647,285
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Cysltr2
cysteinyl leukotriene receptor 2
ISO
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chr14:73,263,043...73,286,554
Ensembl chr14:73,263,043...73,286,554
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Ido1
indoleamine 2,3-dioxygenase 1
treatment
IMP
RGD
PMID:24844751
RGD:39939118
NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025
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Il6
interleukin 6
treatment
ISO
protein:increased expression:brain
RGD
PMID:25443778 PMID:8943431 PMID:11581077
RGD:9831197 , RGD:11062107 , RGD:11060264
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Lgals3
lectin, galactose binding, soluble 3
ISO
mRNA, protein:increased expression:brain
RGD
PMID:17706429
RGD:9685206
NCBI chr14:47,611,317...47,623,624
Ensembl chr14:47,605,208...47,623,617
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Lgals9
lectin, galactose binding, soluble 9
ISO
RGD
PMID:17706429
RGD:9685206
NCBI chr11:78,853,805...78,875,750
Ensembl chr11:78,853,800...78,875,772
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Marco
macrophage receptor with collagenous structure
ISO
protein:increased expression:meninges, astrocyte
RGD
PMID:21299846
RGD:41412190
NCBI chr 1:120,402,267...120,432,753
Ensembl chr 1:120,402,267...120,432,753
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Mmp2
matrix metallopeptidase 2
treatment
ISO
RGD
PMID:24419461
RGD:8657111
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp9
matrix metallopeptidase 9
treatment
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:17371820 PMID:24419461
RGD:1642043 , RGD:8657111
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Nod2
nucleotide-binding oligomerization domain containing 2
IEP
mRNA, protein:increased expression:brain
RGD
PMID:25443778
RGD:9831197
NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
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Ntrk2
neurotrophic tyrosine kinase, receptor, type 2
ISO
mRNA:increased expression:brain
RGD
PMID:21603940
RGD:5684913
NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784
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Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
ISO
protein:increased expression:brain, nucleus
RGD
PMID:25443778
RGD:9831197
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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Serping1
serine (or cysteine) peptidase inhibitor, clade G, member 1
treatment
ISO
RGD
PMID:17538891
RGD:8661645
NCBI chr 2:84,595,704...84,605,748
Ensembl chr 2:84,595,731...84,605,788
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Tlr2
toll-like receptor 2
IEP
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
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
IEP
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
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
IEP
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
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
disease_progression
ISO
protein:increased expression:brain mRNA:increased expression:brain (rat)
RGD
PMID:25443778 PMID:31933824
RGD:9831197 , RGD:40903068
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Aicda
activation-induced cytidine deaminase
IMP
RGD
PMID:26456931
RGD:11098923
NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139
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Alox5
arachidonate 5-lipoxygenase
IMP
RGD
PMID:20231413
RGD:4890435
NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139
G
Btk
Bruton agammaglobulinemia tyrosine kinase
ameliorates
IMP
RGD
PMID:30646846
RGD:124715470
NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319
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C3
complement component 3
disease_progression
IMP ISO
associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion protein:decreased expression:serum
RGD
PMID:15972516 PMID:17956621 PMID:20405
RGD:5129509 , RGD:5129523 , RGD:5130163
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Ccl5
C-C motif chemokine ligand 5
susceptibility
IMP
RGD
PMID:16455992
RGD:4892130
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Cd14
CD14 antigen
IMP
RGD
PMID:17185649
RGD:4144788
NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:10515841
RGD:4892626
NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919
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Crhr1
corticotropin releasing hormone receptor 1
IMP
RGD
PMID:21774994
RGD:5147472
NCBI chr11:104,021,289...104,066,349
Ensembl chr11:104,023,681...104,066,349
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Crhr2
corticotropin releasing hormone receptor 2
IMP
RGD
PMID:21774994
RGD:5147472
NCBI chr 6:55,067,033...55,110,001
Ensembl chr 6:55,067,034...55,110,001
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Crp
C-reactive protein, pentraxin-related
disease_progression
ISO
RGD
PMID:21281676
RGD:5131293
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Cxcl1
C-X-C motif chemokine ligand 1
IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20958976
RGD:5134957
NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
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Cxcl15
C-X-C motif chemokine ligand 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
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
IEP
protein:increased expression:lung
RGD
PMID:20381636
RGD:5135285
NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938
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Defb3
defensin beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr 8:19,343,377...19,345,355
Ensembl chr 8:19,343,376...19,345,307
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Hc
hemolytic complement
severity
IAGP
RGD
PMID:7814608
RGD:5130159
NCBI chr 2:34,873,341...34,958,518
Ensembl chr 2:34,873,343...34,951,450
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Hmox1
heme oxygenase 1
IEP
associated with influenza;protein:increased expression:lung
RGD
PMID:17348295
RGD:4145366
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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Hp
haptoglobin
ISO
RGD
PMID:19396720
RGD:5147385
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
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Il15
interleukin 15
IEP
protein:increased expression:alveolar macrophage, bronchial epithelial cell
RGD
PMID:17611121
RGD:5000755
NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
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Il15ra
interleukin 15 receptor, alpha chain
IEP
RGD
PMID:17611121
RGD:5000755
NCBI chr 2:11,709,992...11,739,129
Ensembl chr 2:11,710,101...11,739,128
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Il17a
interleukin 17A
IDA
RGD
PMID:19995896
RGD:4888531
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il18
interleukin 18
IMP
RGD
PMID:15770015
RGD:4889960
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il6
interleukin 6
IDA
RGD
PMID:20643849
RGD:4143255
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Lep
leptin
IMP
RGD
PMID:17822444
RGD:5128869
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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Lepr
leptin receptor
IMP
RGD
PMID:21148797
RGD:5128846
NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
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Mapk1
mitogen-activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317
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Mapk3
mitogen-activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991
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Masp2
MBL associated serine protease 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12904520
NCBI chr 4:148,679,079...148,699,939
Ensembl chr 4:148,687,011...148,699,956
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Mbl2
mannose-binding lectin (protein C) 2
no_association
ISO
DNA:polymorphisms:5' utr, exon:multiple (human) DNA:mutations:5' utr, exon:multiple (human)
RGD
PMID:12047967 PMID:18641104
RGD:4889478 , RGD:4889477
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Nos2
nitric oxide synthase 2, inducible
IMP
RGD
PMID:17056580
RGD:4891950
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Pten
phosphatase and tensin homolog
ameliorates
IMP
myeloid knockout
RGD
PMID:20505137
RGD:127285597
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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Sftpd
surfactant associated protein D
severity
IMP
RGD
PMID:16255775
RGD:4143519
NCBI chr14:40,894,169...40,907,155
Ensembl chr14:40,894,171...40,907,106
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
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Sting1
stimulator of interferon response cGAMP interactor 1
IMP
RGD
PMID:29263110
RGD:39128230
NCBI chr18:35,866,731...35,873,607
Ensembl chr18:35,866,732...35,873,607
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Tlr2
toll-like receptor 2
IMP
RGD
PMID:19956717
RGD:4145321
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
IMP IEP
associated with influenza;protein:increased expression:lung
RGD
PMID:9032201 PMID:17348295
RGD:4143479 , RGD:4145366
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
ameliorates
IEP IDA
RGD
PMID:24752755 PMID:19596984
RGD:126928121 , RGD:127229903
NCBI chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952
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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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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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Gc
vitamin D binding protein
ISO
RGD
PMID:2737695
RGD:5509933
NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757
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H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
DNA:polymorphisms, haplotypes:multiple DNA:polymorphism: :HLA-DQA1*03 (human)
RGD
PMID:17559688 PMID:15789899
RGD:5147792 , RGD:127285392
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
G
H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
DNA:polymorphisms, haplotypes:multiple
RGD
PMID:17559688
RGD:5147792
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
G
H2-Eb1
histocompatibility 2, class II antigen E beta
ISO
DNA:polymorphisms, haplotypes:multiple
RGD
PMID:17559688
RGD:5147792
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
G
Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:14567831
RGD:13702910
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
G
Acta2
actin alpha 2, smooth muscle, aorta
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr19:34,217,736...34,232,985
Ensembl chr19:34,218,490...34,232,990
G
Bax
BCL2-associated X protein
ISO
mRNA:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322
G
Cd36
CD36 molecule
ISO
mRNA:decreased expression:blood, mononuclear cell
RGD
PMID:16741676
RGD:6893529
NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
G
Col1a1
collagen, type I, alpha 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868
G
Col3a1
collagen, type III, alpha 1
ISO
mRNA:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866
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Fcna
ficolin A
ISO
ClinVar Annotator: match by term: Rheumatic heart disease
ClinVar
NCBI chr 2:25,514,677...25,525,448
Ensembl chr 2:25,514,678...25,518,042
G
Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
RGD
PMID:26823728
RGD:13792679
NCBI chr 6:125,138,812...125,143,450
Ensembl chr 6:125,138,678...125,143,430
G
H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
DNA:polymorphisms, haplotypes:multiple DNA:polymorphism, haplotype: :HLA-DQA1*0101, HLA-DQA1*0103, HLA-DQA1*0301 (human)
RGD
PMID:17559688 PMID:29029143
RGD:5147792 , RGD:126925989
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
G
H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
DNA:polymorphisms:cds:HLA-DQB1*08 (human)
RGD
PMID:17578051
RGD:5147630
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
G
H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism:cds:HLA-DRB1*13 (human)
RGD
PMID:17578051 PMID:16426242
RGD:5147630 , RGD:5147643
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
G
Igf1
insulin-like growth factor 1
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
G
Il10
interleukin 10
no_association
ISO
RGD
PMID:16043936
RGD:1598626
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
G
Inhba
inhibin beta-A
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr13:16,178,841...16,206,194
Ensembl chr13:16,186,436...16,206,206
G
Lef1
lymphoid enhancer binding factor 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 3:130,903,972...131,018,006
Ensembl chr 3:130,904,120...131,018,005
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Mir155
microRNA 155
ISO
RGD
PMID:31894293
RGD:151347417
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Snai1
snail family zinc finger 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 2:167,380,115...167,384,734
Ensembl chr 2:167,380,115...167,384,734
G
Socs1
suppressor of cytokine signaling 1
treatment
ISO
RGD
PMID:31894293
RGD:151347417
NCBI chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400
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Twist1
twist basic helix-loop-helix transcription factor 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr12:34,007,670...34,009,830
Ensembl chr12:34,007,670...34,009,828
G
Zeb1
zinc finger E-box binding homeobox 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr18:5,591,330...5,775,468
Ensembl chr18:5,591,860...5,775,467
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Zeb2
zinc finger E-box binding homeobox 2
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 2:44,873,523...45,007,378
Ensembl chr 2:44,873,644...45,007,407
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Gsn
gelsolin
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:25403731
RGD:329333026
NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904
G
Icam1
intercellular adhesion molecule 1
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Sele
selectin, endothelial cell
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr 1:163,867,200...163,886,056
Ensembl chr 1:163,875,773...163,885,246
G
Vcam1
vascular cell adhesion molecule 1
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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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
G
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
G
Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8186310
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
G
Cd163
CD163 antigen
exacerbates
IMP
RGD
PMID:32199911
RGD:127285678
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
G
Cd36
CD36 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15690042
NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
G
Csf3
colony stimulating factor 3 (granulocyte)
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27737899
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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Cxcl15
C-X-C motif chemokine ligand 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23661603
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Il10
interleukin 10
treatment
ISO
RGD
PMID:23993644
RGD:7364979
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il2
interleukin 2
IEP
RGD
PMID:21603642
RGD:5147906
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
G
Il4
interleukin 4
susceptibility
ISO
DNA:SNP:promoter:-542C>T (human)
RGD
PMID:18422436
RGD:7829791
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
G
Irak3
interleukin-1 receptor-associated kinase 3
treatment
IEP
RGD
PMID:28954388
RGD:34888230
NCBI chr10:119,977,553...120,038,035
Ensembl chr10:119,977,553...120,038,035
G
Ltf
lactotransferrin
ISO
RGD
PMID:10030017
RGD:7243953
NCBI chr 9:110,848,360...110,871,834
Ensembl chr 9:110,848,339...110,871,835
G
Stat2
signal transducer and activator of transcription 2
ameliorates
IMP
associated with influenza A
RGD
PMID:30337919
RGD:41789626
NCBI chr10:128,106,367...128,128,722
Ensembl chr10:128,106,428...128,128,718
G
Tlr2
toll-like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23661603
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
G
Xrn1
5'-3' exoribonuclease 1
susceptibility
ISO
DNA:snp:intron:c.2339+1477G>A (rs7643377) (human)
RGD
PMID:24847357
RGD:11530009
NCBI chr 9:95,836,803...95,939,859
Ensembl chr 9:95,836,813...95,939,856
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Akt1
thymoma viral proto-oncogene 1
treatment
IMP
RGD
PMID:23613163
RGD:38676477
NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
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Cd86
CD86 antigen
IEP
protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse)
RGD
PMID:20949109
RGD:4892562
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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Cftr
cystic fibrosis transmembrane conductance regulator
IMP
RGD
PMID:28289144
RGD:36049750
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
G
Csf3
colony stimulating factor 3 (granulocyte)
treatment
ISO
RGD
PMID:10228098
RGD:11039478
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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Fn1
fibronectin 1
ISO
RGD
PMID:12065530
RGD:7205474
NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
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Ifnar1
interferon (alpha and beta) receptor 1
susceptibility
IMP
RGD
PMID:19603548
RGD:5490273
NCBI chr16:91,281,016...91,307,411
Ensembl chr16:91,282,126...91,304,329
G
Il10
interleukin 10
IEP
mRNA, protein:increased expression:lung
RGD
PMID:22940620
RGD:7364825
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
G
Il15
interleukin 15
IMP
RGD
PMID:18390740
RGD:4996474
NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
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Il1b
interleukin 1 beta
IGI
RGD
PMID:20065029
RGD:4142828
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Il33
interleukin 33
IEP
mRNA:increased expression:lung:
RGD
PMID:28401938
RGD:40400699
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
G
Nod2
nucleotide-binding oligomerization domain containing 2
IMP
RGD
PMID:20493961
RGD:5131444
NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
G
Prkn
parkin RBR E3 ubiquitin protein ligase
IEP
protein:increased expression:lung (mouse)
RGD
PMID:28663335
RGD:13432209
NCBI chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
severity
IEP IMP
mRNA:increased expression:lung associated with influenza
RGD
PMID:31782850 PMID:31782850
RGD:39131288 , RGD:39131288
NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
G
Ripk3
receptor-interacting serine-threonine kinase 3
treatment
IEP
RGD
PMID:25445964
RGD:127229910
NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322
G
Sftpb
surfactant associated protein B
ameliorates
ISO
RGD
PMID:20007532
RGD:151667448
NCBI chr 6:72,281,594...72,291,354
Ensembl chr 6:72,281,594...72,291,354
G
Il17a
interleukin 17A
IMP
RGD
PMID:24614654
RGD:9068425
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
G
Il18
interleukin 18
treatment
IDA
RGD
PMID:21536791
RGD:8655921
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
G
Il33
interleukin 33
treatment
IEP IDA
mRNA,protein:increased expression:skin
RGD
PMID:23892028 PMID:23892028
RGD:40400893 , RGD:40400893
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
G
Ripk3
receptor-interacting serine-threonine kinase 3
ameliorates
IMP
RGD
PMID:27524612
RGD:127229915
NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322
G
Serpinf1
serine (or cysteine) peptidase inhibitor, clade F, member 1
severity
IMP
RGD
PMID:25515118
RGD:36174009
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
G
Cd86
CD86 antigen
IEP
associated with Encephalomyelitis, Experimental Autoimmune; protein:increased expression:spleen, dendritic cell (mouse)
RGD
PMID:16861672
RGD:4892553
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
G
Il17a
interleukin 17A
IEP
protein:increased expression:serum (mouse)
RGD
PMID:22384827
RGD:8698662
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
G
Lcn2
lipocalin 2
IEP
mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium
RGD
PMID:16153241
RGD:126781709
NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264
G
Mx1
MX dynamin-like GTPase 1
ISO
associated with pharyngitis;protein:increased expression:blood (human)
RGD
PMID:28077283
RGD:126777682
NCBI chr16:97,248,235...97,264,106
Ensembl chr16:97,248,235...97,264,107
G
Tlr2
toll-like receptor 2
severity
IMP
RGD
PMID:19179417
RGD:7240559
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
G
Tnf
tumor necrosis factor
ISO
associated with Otitis Media
RGD
PMID:8302123
RGD:11554174
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
Atm
ataxia telangiectasia mutated
exacerbates
IMP
RGD
PMID:27421701
RGD:126779562
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
G
Btk
Bruton agammaglobulinemia tyrosine kinase
IMP
RGD
PMID:30873567
RGD:124715473
NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319
G
Cd209b
CD209b antigen
severity
IMP
RGD
PMID:16134084
RGD:39938986
NCBI chr 8:3,967,655...3,976,841
Ensembl chr 8:3,967,655...3,976,844
G
Ido1
indoleamine 2,3-dioxygenase 1
IEP
mRNA:increased expression:lung (mouse)
RGD
PMID:20385761
RGD:39938865
NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025
G
Ifng
interferon gamma
IEP
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
G
Il6
interleukin 6
IEP
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
G
Irak3
interleukin-1 receptor-associated kinase 3
severity
IMP
RGD
PMID:22492852
RGD:35316076
NCBI chr10:119,977,553...120,038,035
Ensembl chr10:119,977,553...120,038,035
G
Itgb2
integrin beta 2
susceptibility
IMP
RGD
PMID:11390487
RGD:127345090
NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
G
Lamp1
lysosomal-associated membrane protein 1
IEP
protein:increased expression:lung, natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr 8:13,209,161...13,225,338
Ensembl chr 8:13,209,161...13,225,338
G
Marco
macrophage receptor with collagenous structure
exacerbates
IMP
RGD
PMID:15263032
RGD:41412189
NCBI chr 1:120,402,267...120,432,753
Ensembl chr 1:120,402,267...120,432,753
G
Ncr1
natural cytotoxicity triggering receptor 1
severity
IMP
RGD
PMID:21887255
RGD:40818252
NCBI chr 7:4,340,714...4,348,183
Ensembl chr 7:4,340,723...4,348,163
G
Pdcd1
programmed cell death 1
treatment
IMP
RGD
PMID:25624454
RGD:40818422
NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
G
Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
treatment
IMP
associated with immunodeficiency 14
RGD
PMID:30093657
RGD:40890269
NCBI chr 4:149,733,625...149,787,023
Ensembl chr 4:149,733,625...149,787,028
G
Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
severity
IMP
RGD
PMID:17322108
RGD:38599154
NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658
G
Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
IMP
RGD
PMID:33625952
RGD:127229925
NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322
G
Tnf
tumor necrosis factor
IEP
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
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
G
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
G
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
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 chr17:34,573,763...34,588,466
Ensembl chr17:34,573,796...34,588,469
G
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
G
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 PMID:25741868 More...
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
susceptibility
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
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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Cd163
CD163 antigen
ISO
protein:increased expression:duodenum, macrophage (human)
RGD
PMID:19664628
RGD:149735573
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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