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
GViewer not supported for the selected species.
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Icos
inducible T cell costimulator
ISO
RGD
PMID:12421962
RGD:1624276
NCBI chrNW_004624765:12,351,695...12,417,847
Ensembl chrNW_004624765:12,352,042...12,372,861
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Tlr2
toll like receptor 2
ISO
RGD
PMID:18354210
RGD:7240560
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
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Antxr2
ANTXR cell adhesion molecule 2
ISO
RGD
PMID:17054395
RGD:1599126
NCBI chrNW_004624757:10,972,976...11,123,103
Ensembl chrNW_004624757:10,972,692...11,125,898
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Il1b
interleukin 1 beta
disease_progression
ISO
mRNA:decreased expression:multiple (mouse)
RGD
PMID:19075243
RGD:40902812
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
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LOC101715199
neutrophil elastase
ISO
protein:increased expression:plasma:
RGD
PMID:19049643
RGD:10450550
NCBI chrNW_004624828:7,720,020...7,722,842
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Rnasel
ribonuclease L
severity
ISO
RGD
PMID:19075243
RGD:40902812
NCBI chrNW_004624814:11,268,725...11,319,023
Ensembl chrNW_004624814:11,268,698...11,305,221
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Tnf
tumor necrosis factor
disease_progression
ISO
protein:decreased expression:multiple (mouse)
RGD
PMID:19075243
RGD:40902812
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:16923792
RGD:39457937
NCBI chrNW_004624802:11,662,851...11,664,444
Ensembl chrNW_004624802:11,662,753...11,665,418
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Il4
interleukin 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17387165
NCBI chrNW_004624733:39,412,800...39,420,079
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Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
ClinVar Annotator: match by term: Buruli ulcer, susceptibility to
OMIM ClinVar
PMID:16395392
NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300
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Il23a
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:26455347
RGD:11097134
NCBI chrNW_004624802:11,662,851...11,664,444
Ensembl chrNW_004624802:11,662,753...11,665,418
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Il33
interleukin 33
severity treatment
ISO
RGD
PMID:32156806
RGD:40400894
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
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Il27
interleukin 27
ISO
associated with diarrhea;protein:increased expression:blood��serum, feces (human)
RGD
PMID:29140433
RGD:126790495
NCBI chrNW_004624782:13,009,450...13,015,548
Ensembl chrNW_004624782:13,009,564...13,015,440
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Marco
macrophage receptor with collagenous structure
exacerbates
ISO
RGD
PMID:20810988
RGD:41412193
NCBI chrNW_004624732:26,203,345...26,236,001
Ensembl chrNW_004624732:26,203,219...26,236,057
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Comt
catechol-O-methyltransferase
severity
ISO
DNA:missense mutation:cds: (rs4680) (human)
RGD
PMID:20184498
RGD:8662334
NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
DNA:SNP:promoter:g.-251T>A (human)
RGD
PMID:17709521
RGD:150523787
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
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Tlr2
toll like receptor 2
ISO
mRNA:increased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
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Tlr4
toll like receptor 4
ISO
mRNA:decreased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
protein:increased expression:serum (human)
RGD
PMID:16001981
RGD:39939055
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
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Ereg
epiregulin
susceptibility
ISO
DNA:SNP:exon 4: (rs2367707) (human)
RGD
PMID:30634928
RGD:39457687
NCBI chrNW_004624730:1,339,017...1,353,869
Ensembl chrNW_004624730:1,339,518...1,353,429
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Asip
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32937126
NCBI chrNW_004624842:5,079,499...5,084,933
Ensembl chrNW_004624842:5,079,499...5,084,933
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Gsn
gelsolin
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:9142022
RGD:329333022
NCBI chrNW_004624760:13,943,680...14,004,660
Ensembl chrNW_004624760:13,943,888...13,969,905
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Otulin
OTU deubiquitinase with linear linkage specificity
susceptibility
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 chrNW_004624751:11,676,932...11,703,143
Ensembl chrNW_004624751:11,676,850...11,702,061
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Irf1
interferon regulatory factor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 117
OMIM ClinVar
NCBI chrNW_004624733:39,596,565...39,603,428
Ensembl chrNW_004624733:39,596,501...39,603,526
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Bclaf1
BCL2 associated transcription factor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004624886:1,394,556...1,424,294
Ensembl chrNW_004624886:1,394,588...1,424,778
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Card11
caspase recruitment domain family member 11
ISO
ClinVar Annotator: match by term: IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE
ClinVar
PMID:25741868
NCBI chrNW_004624740:29,974,707...30,085,498
Ensembl chrNW_004624740:29,974,689...30,085,981
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Ifngr1
interferon gamma receptor 1
susceptibility
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
OMIM ClinVar
PMID:8960473 PMID:8960475 PMID:9142806 PMID:9389728 PMID:9497247 PMID:9806040 PMID:10192386 PMID:10811850 PMID:11583830 PMID:12516030 PMID:12712974 PMID:12743658 PMID:15589309 PMID: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 chrNW_004624886:618,372...640,954
Ensembl chrNW_004624886:618,289...642,928
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Ifngr2
interferon gamma receptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004624745:21,628,968...21,652,305
Ensembl chrNW_004624745:21,628,797...21,651,652
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Il12rb1
interleukin 12 receptor subunit beta 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:19460324 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chrNW_004624908:1,472,059...1,481,423
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Il20ra
interleukin 20 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004624886:741,022...781,041
Ensembl chrNW_004624886:741,346...780,599
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Il22ra2
interleukin 22 receptor subunit alpha 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004624886:650,376...659,502
Ensembl chrNW_004624886:650,373...659,502
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Map3k5
mitogen-activated protein kinase kinase kinase 5
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004624886:970,415...1,189,595
Ensembl chrNW_004624886:969,623...1,190,709
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Map7
microtubule associated protein 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004624886:1,194,440...1,359,644
Ensembl chrNW_004624886:1,216,878...1,360,123
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Mtfr2
mitochondrial fission regulator 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004624886:1,431,171...1,446,007
Ensembl chrNW_004624886:1,434,253...1,444,462
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Pde7b
phosphodiesterase 7B
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004624886:1,474,076...1,827,608
Ensembl chrNW_004624886:1,473,491...1,827,688
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Pex7
peroxisomal biogenesis factor 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004624886:877,359...944,365
Ensembl chrNW_004624886:876,787...944,911
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Slc35d3
solute carrier family 35 member D3
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chrNW_004624886:867,131...870,282
Ensembl chrNW_004624886:867,631...870,247
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Col3a1
collagen type III alpha 1 chain
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004624899:1,192,078...1,230,528
Ensembl chrNW_004624899:1,192,360...1,230,404
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Col5a2
collagen type V alpha 2 chain
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004624899:1,035,797...1,175,394
Ensembl chrNW_004624899:1,035,964...1,174,844
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CUNH2orf88
chromosome unknown C2orf88 homolog
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004624854:5,770,852...5,846,616
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Gls
glutaminase
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004624854:5,106,419...5,202,445
Ensembl chrNW_004624854:5,108,566...5,202,240
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Hibch
3-hydroxyisobutyryl-CoA hydrolase
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004624854:5,705,067...5,770,145
Ensembl chrNW_004624854:5,705,044...5,769,628
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Inpp1
inositol polyphosphate-1-phosphatase
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004624854:5,660,648...5,686,628
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Mfsd6
major facilitator superfamily domain containing 6
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004624854:5,564,082...5,636,902
Ensembl chrNW_004624854:5,565,792...5,615,488
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Mstn
myostatin
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004624854:5,893,051...5,899,380
Ensembl chrNW_004624854:5,892,938...5,899,473
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Nab1
NGFI-A binding protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004624854:5,393,525...5,423,580
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Nemp2
nuclear envelope integral membrane protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004624854:5,534,535...5,562,172
Ensembl chrNW_004624854:5,540,486...5,557,971
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Slc40a1
solute carrier family 40 member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004624899:685,166...701,725
Ensembl chrNW_004624899:685,097...702,440
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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 chrNW_004624854:5,067,578...5,106,052
Ensembl chrNW_004624854:5,067,535...5,102,106
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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 chrNW_004624854:4,975,724...5,056,940
Ensembl chrNW_004624854:4,976,507...5,057,391
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Wdr75
WD repeat domain 75
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chrNW_004624899:786,447...818,310
Ensembl chrNW_004624899:785,343...818,855
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Abcd1
ATP binding cassette subfamily D member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:421,113...439,961
Ensembl chrNW_004624946:421,132...440,075
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Arhgap4
Rho GTPase activating protein 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:543,542...556,865
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Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:247,032...307,645
Ensembl chrNW_004624946:247,168...307,663
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Atp6ap1
ATPase H+ transporting accessory protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:885,400...902,082
Ensembl chrNW_004624946:884,685...902,365
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Avpr2
arginine vasopressin receptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:541,317...543,397
Ensembl chrNW_004624946:541,362...543,492
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Bcap31
B cell receptor associated protein 31
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:398,901...420,767
Ensembl chrNW_004624946:399,227...419,642
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Bgn
biglycan
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:230,529...241,448
Ensembl chrNW_004624946:230,519...241,850
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Brcc3
BRCA1/BRCA2-containing complex subunit 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624963:142,987...212,190
Ensembl chrNW_004624963:145,580...212,064
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Ccnq
cyclin Q
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:311,291...322,546
Ensembl chrNW_004624946:311,594...322,530
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Clic2
chloride intracellular channel 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624963:21,115...47,757
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Cmc4
C-X9-C motif containing 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624963:212,470...221,697
Ensembl chrNW_004624963:212,030...221,697
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Dkc1
dyskerin pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624963:468,673...479,317
Ensembl chrNW_004624963:469,408...479,207
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Dnase1l1
deoxyribonuclease 1 like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:858,638...869,859
Ensembl chrNW_004624946:864,657...870,396
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Dusp9
dual specificity phosphatase 9
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:359,273...366,310
Ensembl chrNW_004624946:359,377...366,308
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Emd
emerin
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:805,573...808,001
Ensembl chrNW_004624946:801,639...808,162
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F8
coagulation factor VIII
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624963:252,943...424,718
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Fam3a
FAM3 metabolism regulating signaling molecule A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:974,903...981,798
Ensembl chrNW_004624946:972,676...982,049
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Fam50a
family with sequence similarity 50 member A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:909,398...918,972
Ensembl chrNW_004624946:909,401...919,088
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:812,278...836,307
Ensembl chrNW_004624946:812,287...837,273
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Fundc2
FUN14 domain containing 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624963:223,145...250,841
Ensembl chrNW_004624963:226,564...251,113
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G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:989,376...1,001,787
Ensembl chrNW_004624946:986,107...1,001,955
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Gab3
GRB2 associated binding protein 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624963:492,210...573,887
Ensembl chrNW_004624963:492,292...573,878
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Gdi1
GDP dissociation inhibitor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:902,831...908,815
Ensembl chrNW_004624946:902,461...909,613
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Haus7
HAUS augmin like complex subunit 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:190,065...210,003
Ensembl chrNW_004624946:190,127...210,497
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Hcfc1
host cell factor C1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:571,776...591,543
Ensembl chrNW_004624946:571,774...590,247
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Idh3g
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:465,832...472,259
Ensembl chrNW_004624946:461,780...472,336
G
Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
OMIM ClinVar
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 chrNW_004624946:997,571...1,015,748
Ensembl chrNW_004624946:996,814...1,013,379
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Il9r
interleukin 9 receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624913:906,953...918,906
Ensembl chrNW_004624913:908,644...920,658
G
Irak1
interleukin 1 receptor associated kinase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:613,392...618,459
Ensembl chrNW_004624946:613,890...618,445
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L1cam
L1 cell adhesion molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:512,413...533,669
Ensembl chrNW_004624946:513,297...525,009
G
Lage3
L antigen family member 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:951,479...952,962
Ensembl chrNW_004624946:949,343...953,362
G
Mecp2
methyl-CpG binding protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:620,581...685,339
Ensembl chrNW_004624946:628,284...685,246
G
Mpp1
MAGUK p55 scaffold protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624963:445,559...467,976
Ensembl chrNW_004624963:445,588...467,976
G
Mtcp1
mature T cell proliferation 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624963:212,524...218,187
Ensembl chrNW_004624963:215,462...218,187
G
Naa10
N-alpha-acetyltransferase 10, NatA catalytic subunit
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:560,924...570,340
Ensembl chrNW_004624946:559,710...570,372 Ensembl chrNW_004624946:559,710...570,372
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Pdzd4
PDZ domain containing 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:477,125...496,871
Ensembl chrNW_004624946:477,156...496,750
G
Plxna3
plexin A3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:924,956...939,483
Ensembl chrNW_004624946:926,521...939,483
G
Plxnb3
plexin B3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:447,981...460,880
Ensembl chrNW_004624946:450,047...460,718
G
Pnck
pregnancy up-regulated nonubiquitous CaM kinase
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:377,454...391,055
Ensembl chrNW_004624946:376,856...391,192
G
Rab39b
RAB39B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624963:51,978...71,781
Ensembl chrNW_004624963:63,187...73,440
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Rpl10
ribosomal protein L10
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:860,639...863,636
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Slc10a3
solute carrier family 10 member 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:958,850...961,163
Ensembl chrNW_004624946:959,051...960,502
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Slc6a8
solute carrier family 6 member 8
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:389,806...396,653
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Smim9
small integral membrane protein 9
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624963:432,489...434,002
G
Spry3
sprouty RTK signaling antagonist 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624980:209,271...311,332
Ensembl chrNW_004624980:211,744...311,252
G
Srpk3
SRSF protein kinase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:462,108...465,831
Ensembl chrNW_004624946:462,114...465,841
G
Ssr4
signal sequence receptor subunit 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:472,364...475,989
Ensembl chrNW_004624946:472,339...475,989
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Tafazzin
tafazzin, phospholipid-lysophospholipid transacylase
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:871,618...885,331
Ensembl chrNW_004624946:871,901...879,508
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Tex28
testis expressed 28
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:718,330...748,957
G
Tktl1
transketolase like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:760,078...775,073
G
Tmlhe
trimethyllysine hydroxylase, epsilon
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624980:310,630...407,364
Ensembl chrNW_004624980:310,426...406,972
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Trex2
three prime repair exonuclease 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:187,147...188,805
Ensembl chrNW_004624946:187,056...210,497
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Ubl4a
ubiquitin like 4A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624946:955,993...958,424
Ensembl chrNW_004624946:955,993...958,849
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Vamp7
vesicle associated membrane protein 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624980:40,937...94,547
Ensembl chrNW_004624980:40,843...94,528
G
Vbp1
VHL binding protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chrNW_004624963:94,482...129,223
Ensembl chrNW_004624963:93,135...129,198
G
LOC101709509
cytochrome b-245 heavy chain
ISO
ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
OMIM 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 chrNW_004624762:17,759,625...17,793,434
Ensembl chrNW_004624762:17,757,404...17,793,467
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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 chrNW_004624818:8,302,409...8,315,878
Ensembl chrNW_004624818:8,302,957...8,314,590
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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 chrNW_004624818:7,288,206...7,289,499
Ensembl chrNW_004624818:7,288,304...7,289,434
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 chrNW_004624818:8,475,453...8,508,818
Ensembl chrNW_004624818:8,476,562...8,508,786
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 chrNW_004624818:8,217,922...8,221,907
Ensembl chrNW_004624818:8,219,101...8,221,907
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 chrNW_004624818:6,949,484...6,966,195
Ensembl chrNW_004624818:6,949,484...6,966,237
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 chrNW_004624818:8,246,636...8,248,002
Ensembl chrNW_004624818:8,246,646...8,248,005
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B3galt6
beta-1,3-galactosyltransferase 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 chrNW_004624818:8,360,321...8,361,975
Ensembl chrNW_004624818:8,360,849...8,361,817
G
C1qtnf12
C1q and TNF 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 chrNW_004624818:8,347,292...8,352,160
Ensembl chrNW_004624818:8,348,758...8,352,150
G
Calml6
calmodulin like 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 chrNW_004624818:7,920,401...7,921,517
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 chrNW_004624818:6,755,562...6,767,446
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 chrNW_004624818:8,233,547...8,242,547
Ensembl chrNW_004624818:8,233,574...8,242,542
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 chrNW_004624818:6,712,616...6,737,377
Ensembl chrNW_004624818:6,716,695...6,737,883
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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 chrNW_004624818:7,876,727...7,916,762
Ensembl chrNW_004624818:7,882,658...7,918,521
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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 chrNW_004624818:8,283,925...8,287,410
Ensembl chrNW_004624818:8,283,926...8,287,274
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CUNH1orf159
chromosome unknown C1orf159 homolog
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 chrNW_004624818:8,443,253...8,461,489
Ensembl chrNW_004624818:8,443,447...8,461,489
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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 chrNW_004624818:8,267,111...8,283,755
Ensembl chrNW_004624818:8,267,128...8,278,725
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Faap20
FA 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 chrNW_004624818:7,747,602...7,756,968
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 chrNW_004624818:8,120,230...8,126,439
Ensembl chrNW_004624818:8,120,230...8,122,171
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Gabrd
gamma-aminobutyric acid type 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 chrNW_004624818:7,856,797...7,864,552
Ensembl chrNW_004624818:7,856,797...7,864,540
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Gnb1
G protein subunit 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 chrNW_004624818:7,937,061...8,002,798
Ensembl chrNW_004624818:7,936,932...8,003,433
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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 chrNW_004624818:7,516,279...7,517,654
Ensembl chrNW_004624818:7,516,189...7,518,734
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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 chrNW_004624818:8,287,539...8,299,456
Ensembl chrNW_004624818:8,289,929...8,299,254
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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 chrNW_004624818:8,510,657...8,511,749
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Klhl17
kelch like family member 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 chrNW_004624818:8,545,562...8,551,348
Ensembl chrNW_004624818:8,546,137...8,550,603
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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 chrNW_004624818:6,741,029...6,749,919
Ensembl chrNW_004624818:6,740,983...6,750,877
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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 chrNW_004624818:6,867,706...6,945,383
G
Mib2
MIB 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 chrNW_004624818:8,078,677...8,091,448
Ensembl chrNW_004624818:8,077,851...8,099,547
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Mmel1
membrane metalloendopeptidase 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 chrNW_004624818:7,451,213...7,481,988
Ensembl chrNW_004624818:7,453,177...7,485,439
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Mmp23b
matrix metallopeptidase 23B
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 chrNW_004624818:8,074,977...8,077,849
Ensembl chrNW_004624818:8,075,725...8,077,838
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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 chrNW_004624818:7,616,542...7,667,487
Ensembl chrNW_004624818:7,616,738...7,667,130
G
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 chrNW_004624818:8,227,947...8,231,006
Ensembl chrNW_004624818:8,228,005...8,231,009
G
Mxra8
matrix remodeling 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 chrNW_004624818:8,258,707...8,264,821
Ensembl chrNW_004624818:8,261,758...8,264,026
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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 chrNW_004624818:8,006,465...8,025,664
G
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 chrNW_004624818:8,551,379...8,563,760
Ensembl chrNW_004624818:8,551,462...8,563,529
G
Pank4
pantothenate kinase 4 (inactive)
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 chrNW_004624818:7,519,347...7,532,116
Ensembl chrNW_004624818:7,519,382...7,532,108
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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 chrNW_004624818:7,598,467...7,605,067
Ensembl chrNW_004624818:7,597,729...7,605,322
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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 chrNW_004624818:7,533,889...7,595,887
Ensembl chrNW_004624818:7,534,265...7,588,288
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Plekhn1
pleckstrin homology domain containing N1
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 chrNW_004624818:8,537,044...8,545,393
Ensembl chrNW_004624818:8,537,631...8,544,676
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Prdm16
PR/SET domain 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 chrNW_004624818:6,978,436...7,258,366
Ensembl chrNW_004624818:6,978,436...7,258,357
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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 chrNW_004624818:7,758,192...7,846,950
Ensembl chrNW_004624818:7,759,770...7,847,208
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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 chrNW_004624818:7,478,680...7,485,431
Ensembl chrNW_004624818:7,483,001...7,485,431
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Pusl1
pseudouridine 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 chrNW_004624818:8,299,449...8,302,333
Ensembl chrNW_004624818:8,299,449...8,302,320
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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 chrNW_004624818:7,604,854...7,616,457
Ensembl chrNW_004624818:7,605,105...7,616,282
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Rnf223
ring finger protein 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 chrNW_004624818:8,461,662...8,467,044
Ensembl chrNW_004624818:8,461,575...8,467,038
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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 chrNW_004624818:8,563,376...8,581,028
Ensembl chrNW_004624818:8,563,879...8,581,015
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Scnn1d
sodium channel epithelial 1 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 chrNW_004624818:8,316,300...8,321,995
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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 chrNW_004624818:8,362,107...8,371,565
Ensembl chrNW_004624818:8,365,359...8,371,386
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Ski
SKI proto-oncogene
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 chrNW_004624818:7,674,184...7,736,249
Ensembl chrNW_004624818:7,673,203...7,736,255
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Smim1
small integral membrane protein 1 (Vel blood group)
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 chrNW_004624818:6,749,893...6,755,460
Ensembl chrNW_004624818:6,752,595...6,753,126
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Ssu72
SSU72 homolog, RNA polymerase II CTD phosphatase
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 chrNW_004624818:8,147,173...8,177,682
Ensembl chrNW_004624818:8,147,185...8,177,684
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Tas1r3
taste 1 receptor 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 chrNW_004624818:8,279,161...8,282,304
Ensembl chrNW_004624818:8,279,161...8,282,304
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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 chrNW_004624818:8,178,425...8,183,185
Ensembl chrNW_004624818:8,178,451...8,183,043
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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 chrNW_004624818:7,916,889...7,920,138
Ensembl chrNW_004624818:7,918,625...7,920,138
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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 chrNW_004624818:8,213,876...8,217,899
Ensembl chrNW_004624818:8,215,265...8,216,922
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Tnfrsf14
TNF receptor superfamily member 14
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 chrNW_004624818:7,491,473...7,505,185
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Tnfrsf18
TNF 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 chrNW_004624818:8,376,204...8,380,266
Ensembl chrNW_004624818:8,378,131...8,379,974
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Tnfrsf4
TNF 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 chrNW_004624818:8,372,092...8,376,108
Ensembl chrNW_004624818:8,373,810...8,376,204
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Tp73
tumor protein p73
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 chrNW_004624818:6,775,588...6,817,187
Ensembl chrNW_004624818:6,775,599...6,809,289
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Tprg1l
tumor protein p63 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 chrNW_004624818:6,850,479...6,857,979
Ensembl chrNW_004624818:6,850,486...6,858,136
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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 chrNW_004624818:7,435,250...7,447,905
Ensembl chrNW_004624818:7,427,787...7,447,303
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Ttll10
tubulin tyrosine ligase like 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 chrNW_004624818:8,382,673...8,389,891
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Ube2j2
ubiquitin conjugating enzyme E2 J2
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 chrNW_004624818:8,326,592...8,347,108
Ensembl chrNW_004624818:8,326,781...8,347,370
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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 chrNW_004624818:8,204,223...8,208,398
Ensembl chrNW_004624818:8,204,749...8,208,358
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Wrap73
WD repeat containing, antisense to TP73
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 chrNW_004624818:6,838,261...6,850,115
Ensembl chrNW_004624818:6,838,376...6,850,020
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Ifng
interferon gamma
ISO
ClinVar Annotator: match by term: Immunodeficiency 69
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:32163377
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
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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 chrNW_004624731:9,430,702...9,469,961
Ensembl chrNW_004624731:9,430,790...9,473,839
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Tbx21
T-box transcription factor 21
ISO
ClinVar Annotator: match by term: Immunodeficiency 88
ClinVar OMIM
PMID:25741868
NCBI chrNW_004624795:4,442,188...4,453,544
Ensembl chrNW_004624795:4,442,188...4,453,143
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Cxcl10
C-X-C motif chemokine ligand 10
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chrNW_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910
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Cxcl11
C-X-C motif chemokine ligand 11
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chrNW_004624757:14,952,966...14,954,343
Ensembl chrNW_004624757:14,952,851...14,954,905
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Cxcl9
C-X-C motif chemokine ligand 9
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chrNW_004624757:14,995,649...15,009,771
Ensembl chrNW_004624757:14,995,716...15,011,893
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Gpa33
glycoprotein A33
ISO
mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human)
RGD
PMID:29602771
RGD:41404732
NCBI chrNW_004624826:5,152,114...5,183,403
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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 chrNW_004624761:14,733,912...14,831,428
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C3
complement C3
severity
ISO
protein:decreased expression:serum
RGD
PMID:6342123
RGD:7411735
NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946
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Cd163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:22851198 PMID:28355218
RGD:127345133 RGD:39939078
NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349
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Cfb
complement factor B
severity
ISO
RGD
PMID:6342123
RGD:7411735
NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366
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Il27
interleukin 27
ameliorates
ISO
mRNA:decreased expression:skin of body (human)
RGD
PMID:26030183
RGD:126790539
NCBI chrNW_004624782:13,009,450...13,015,548
Ensembl chrNW_004624782:13,009,564...13,015,440
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:SNP:cds:161G>A (human)
RGD
PMID:20650301
RGD:8694069
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
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Batf3
basic leucine zipper ATF-like transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25642632
NCBI chrNW_004624771:18,102,722...18,112,640
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Ccdc122
coiled-coil domain containing 122
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chrNW_004624748:11,194,873...11,242,700
Ensembl chrNW_004624748:11,208,754...11,242,336
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Ccdc88b
coiled-coil domain containing 88B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25642632
NCBI chrNW_004624767:21,973,147...21,987,317
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Cd8a
CD8 subunit alpha
exacerbates
ISO
mRNA:increased expression:blood (human)
RGD
PMID:31784594
RGD:124715449
NCBI chrNW_004624749:16,564,944...16,569,890
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Cxcl8
C-X-C motif chemokine ligand 8
severity
ISO
DNA:SNP:promoter:g.-353T>A (rs4073) (human)
RGD
PMID:30303246
RGD:40400755
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
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Il10
interleukin 10
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
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Il17a
interleukin 17A
severity
ISO
mRNA:decreased expression:epidermis (human)
RGD
PMID:22641009
RGD:8698644
NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136
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Il19
interleukin 19
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chrNW_004624807:4,636,357...4,641,022
Ensembl chrNW_004624807:4,636,374...4,641,022
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Il23r
interleukin 23 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019778
NCBI chrNW_004624742:27,899,934...27,954,145
Ensembl chrNW_004624742:27,901,071...27,941,109
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Lacc1
laccase domain containing 1
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chrNW_004624748:11,150,678...11,194,794
Ensembl chrNW_004624748:11,187,316...11,194,841
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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 chrNW_004624778:106,594...279,325
Ensembl chrNW_004624778:108,761...279,230
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Lta
lymphotoxin alpha
susceptibility
ISO
ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to
OMIM ClinVar
PMID:15052269 PMID:17353895
NCBI chrNW_004624754:24,626,930...24,628,412
Ensembl chrNW_004624754:24,627,318...24,628,182
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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 chrNW_004624796:10,041,483...10,184,458
Ensembl chrNW_004624796:10,145,610...10,180,671 Ensembl chrNW_004624796:10,145,610...10,180,671
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Nod2
nucleotide binding oligomerization domain containing 2
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103
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Parl
presenilin associated rhomboid like
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chrNW_004624730:72,642,828...72,683,820
Ensembl chrNW_004624730:72,642,925...72,683,820
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Pink1
PTEN induced kinase 1
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chrNW_004624764:5,656,207...5,671,260
Ensembl chrNW_004624764:5,656,229...5,671,260
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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 chrNW_004624855:430,148...1,992,121
Ensembl chrNW_004624855:430,260...1,989,747
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Rab32
RAB32, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019778
NCBI chrNW_004624753:7,900,027...7,917,944
Ensembl chrNW_004624753:7,900,267...7,917,854
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Ripk2
receptor interacting serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chrNW_004624744:2,194,339...2,227,498
Ensembl chrNW_004624744:2,201,319...2,226,890
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Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:repeat:promoter (human) DNA:polymorphisms, haplotype (human)
CTD RGD
PMID:10608779 PMID:15755200 PMID:16597321
RGD:5684957 RGD:5684972
NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300
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Tlr1
toll like receptor 1
susceptibility
ISO
ClinVar Annotator: match by term: LPRS1 | ClinVar Annotator: match by term: Leprosy, susceptibility to, 5 DNA:snp:cds:p.I602S (human)
OMIM ClinVar RGD
PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 PMID:25741868 PMID:26729809 More...
RGD:7246917
NCBI chrNW_004624840:7,287,772...7,349,282
Ensembl chrNW_004624840:7,287,781...7,290,162
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Tlr2
toll like receptor 2
susceptibility
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 3
OMIM ClinVar
PMID:11476982 PMID:12646604 PMID:15726416 PMID:19111445 PMID:25741868 PMID:28492532 More...
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
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Tlr6
toll like receptor 6
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chrNW_004624840:7,323,022...7,349,334
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:−308G>A (human)
RGD
PMID:20650301
RGD:8694069
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Tnfsf15
TNF superfamily member 15
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chrNW_004624760:20,386,025...20,408,919
Ensembl chrNW_004624760:20,386,113...20,403,716
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25320285
NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522
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Btk
Bruton tyrosine kinase
ameliorates
ISO
RGD
PMID:23544144
RGD:124713555
NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171
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Cd8a
CD8 subunit alpha
exacerbates disease_progression
ISO
protein:decreased expression:spleen, liver (mouse) protein:increased expression:liver (mouse)
RGD
PMID:2120126 PMID:20348006
RGD:124715456 RGD:124715458
NCBI chrNW_004624749:16,564,944...16,569,890
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Cebpb
CCAAT enhancer binding protein beta
severity
ISO
RGD
PMID:17911624
RGD:40903039
NCBI chrNW_004624790:5,367,808...5,369,686
Ensembl chrNW_004624790:5,368,349...5,369,377
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Cyld
CYLD lysine 63 deubiquitinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23825949
NCBI chrNW_004624757:5,895,912...5,953,485
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Il15
interleukin 15
ISO
protein:increased expression:epithelial cell, intestine
RGD
PMID:9826341
RGD:1626618
NCBI chrNW_004624853:1,059,625...1,144,799
Ensembl chrNW_004624853:1,128,519...1,144,941
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Il17d
interleukin 17D
severity
ISO
RGD
PMID:31244826
RGD:40903065
NCBI chrNW_004624776:16,924,085...16,941,141
Ensembl chrNW_004624776:16,924,085...16,941,729
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Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
RGD
PMID:8855299
RGD:11522760
NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:19923464 PMID:22966045
RGD:39457955 RGD:39457958
NCBI chrNW_004624802:11,662,851...11,664,444
Ensembl chrNW_004624802:11,662,753...11,665,418
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Il33
interleukin 33
treatment
ISO
RGD
PMID:25577440
RGD:40400693
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
ISO
RGD
PMID:26311905
RGD:40890274
NCBI chrNW_004624818:2,751,724...2,789,145
Ensembl chrNW_004624818:2,751,724...2,779,999
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Ripk3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:30975711
RGD:127229912
NCBI chrNW_004624820:8,165,546...8,169,172
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:21098106 PMID:23378430
RGD:39128219 RGD:39128233
NCBI chrNW_004624743:32,277,197...32,283,346
Ensembl chrNW_004624743:32,273,385...32,283,235
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16751399
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16177108 PMID:21699557
NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522
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Il4r
interleukin 4 receptor
ISO
protein:decreased expression:serum
RGD
PMID:21251883
RGD:5128510
NCBI chrNW_004624782:11,981,781...12,008,362
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Tnf
tumor necrosis factor
ISO
RGD
PMID:10318940
RGD:10449456
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Ggt1
gamma-glutamyltransferase 1
ISO
protein:increased activity:blood:
RGD
PMID:1680936
RGD:14747017
NCBI chrNW_004624747:10,030,034...10,048,554
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:insertion/deletion:3' utr (human)
RGD
PMID:11791966
RGD:5684970
NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300
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Foxp3
forkhead box P3
ISO
mRNA:increased expression:peripheral blood:
RGD
PMID:25483347
RGD:38456003
NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679
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LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
ISO
DNA:polymorphisms (human)
RGD
PMID:14522182
RGD:5147828
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
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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 chrNW_004624730:69,941,963...69,959,266
Ensembl chrNW_004624730:69,941,001...69,957,012
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
protein:increased expression:blood plasma, erythrocyte (human)
RGD
PMID:26300588
RGD:11250849
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
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Il17a
interleukin 17A
ISO
RGD
PMID:20797909
RGD:4888520
NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136
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Tnf
tumor necrosis factor
ISO
associated with HIV Infections
RGD
PMID:7640175
RGD:10450731
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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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 chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521
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Cd36
CD36 molecule (CD36 blood group)
ISO
RGD
PMID:20950462
RGD:6893545
NCBI chrNW_004624739:29,341,620...29,441,232
Ensembl chrNW_004624739:29,407,568...29,441,333
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Ifng
interferon gamma
ISO
associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung
RGD
PMID:19060451
RGD:2311490
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
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Ifngr1
interferon gamma receptor 1
ISO
DNA: mutation DNA: missense mutations: cds: I87T; V63G
RGD
PMID:15589309 PMID:21266457
RGD:6480268 RGD:6480429
NCBI chrNW_004624886:618,372...640,954
Ensembl chrNW_004624886:618,289...642,928
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Il22
interleukin 22
ISO
RGD
PMID:19864591
RGD:5147407
NCBI chrNW_004624802:46,585...51,095
Ensembl chrNW_004624802:46,585...51,095
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Ripk3
receptor interacting serine/threonine kinase 3
ameliorates
ISO
RGD
PMID:28401933
RGD:127229921
NCBI chrNW_004624820:8,165,546...8,169,172
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:point mutation (mouse)
RGD
PMID:11821237
RGD:5684969
NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300
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Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11452125
NCBI chrNW_004624854:5,067,578...5,106,052
Ensembl chrNW_004624854:5,067,535...5,102,106
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15316035
NCBI chrNW_004624818:957,597...996,565
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:15316035 PMID:18941223
NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522
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Cftr
CF transmembrane conductance regulator
susceptibility
ISO
DNA:SNP:cds:rs113857788(p.Q1352H)(human) DNA:mutations: :
RGD
PMID:18703788 PMID:19858235 PMID:23514810
RGD:36049751 RGD:4140395 RGD:4140430
NCBI chrNW_004624827:1,704,733...1,893,579
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Ifngr1
interferon gamma receptor 1
susceptibility
ISO
DNA:nonsense mutation ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
RGD ClinVar
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 More...
RGD:1624283
NCBI chrNW_004624886:618,372...640,954
Ensembl chrNW_004624886:618,289...642,928
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Il12b
interleukin 12B
susceptibility
ISO
disseminated BCG and Salmonella enteritidis infection, OMIM:209950 DNA:deletion:intron,exon:homozygous 4.4kb deletion encompassing exons 4 and 5 and associated introns ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive
RGD ClinVar
PMID:9854038
RGD:1600042
NCBI chrNW_004624733:30,146,050...30,156,144
Ensembl chrNW_004624733:30,146,050...30,154,589
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Il18
interleukin 18
ISO
RGD
PMID:21045270
RGD:4889546
NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
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Il1r1
interleukin 1 receptor type 1
ISO
RGD
PMID:16797208
RGD:5037237
NCBI chrNW_004624749:6,661,142...6,737,988
Ensembl chrNW_004624749:6,708,522...6,739,871
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Il20ra
interleukin 20 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chrNW_004624886:741,022...781,041
Ensembl chrNW_004624886:741,346...780,599
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Il22ra2
interleukin 22 receptor subunit alpha 2
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chrNW_004624886:650,376...659,502
Ensembl chrNW_004624886:650,373...659,502
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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 chrNW_004624886:329,887...331,938
Ensembl chrNW_004624886:330,068...330,886
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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 chrNW_004624886:877,359...944,365
Ensembl chrNW_004624886:876,787...944,911
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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 chrNW_004624886:867,131...870,282
Ensembl chrNW_004624886:867,631...870,247
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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
RGD ClinVar
PMID:11452125
RGD:1600087
NCBI chrNW_004624854:5,067,578...5,106,052
Ensembl chrNW_004624854:5,067,535...5,102,106
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Il10
interleukin 10
ISO
protein:increased expression:aqueous humor
RGD
PMID:22583692
RGD:7364832
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
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C1r
complement C1r
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chrNW_004624860:3,675,926...3,684,598
Ensembl chrNW_004624860:3,676,252...3,684,406
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C3
complement C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946
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F2
coagulation factor II, thrombin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chrNW_004624767:1,876,974...1,887,720
Ensembl chrNW_004624767:1,877,024...1,887,958
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Gsn
gelsolin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chrNW_004624760:13,943,680...14,004,660
Ensembl chrNW_004624760:13,943,888...13,969,905
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LOC101719398
serotransferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chrNW_004624730:10,078,165...10,109,349
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Ggt1
gamma-glutamyltransferase 1
ISO
protein:increased activity:blood:
RGD
PMID:1680936
RGD:14747017
NCBI chrNW_004624747:10,030,034...10,048,554
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Ada
adenosine deaminase
ISO
protein:increased expression:serum: protein:increased activity:serum: protein:increased activity:pleural fluid:
RGD
PMID:1689629 PMID:1818842 PMID:18357489 PMID:21860532
RGD:152995280 RGD:152995288 RGD:152995292 RGD:152998934
NCBI chrNW_004624790:9,809,550...9,829,199
Ensembl chrNW_004624790:9,809,492...9,829,883
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Ada2
adenosine deaminase 2
treatment
ISO
RGD
PMID:8656037
RGD:152995258
NCBI chrNW_004624735:10,023,330...10,052,600
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Ccl22
C-C motif chemokine ligand 22
ISO
RGD
PMID:20337996
RGD:4891473
NCBI chrNW_004624746:28,694,879...28,700,711
Ensembl chrNW_004624746:28,694,735...28,700,827
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Foxp3
forkhead box P3
disease_progression
ISO
associated with human immunodeficiency virus infectious disease;
RGD
PMID:21303360
RGD:36947878
NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679
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Il1b
interleukin 1 beta
ISO
DNA:polymorphism: :3953T>C (human)
RGD
PMID:10377182
RGD:4143226
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
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Il1rn
interleukin 1 receptor antagonist
ISO
DNA:repeat (human)
RGD
PMID:10377182
RGD:4143226
NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890
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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:23962500 PMID:25753767 PMID:28844060 PMID:31819557
RGD:126790505 RGD:126790517 RGD:126790523 RGD:126790549
NCBI chrNW_004624782:13,009,450...13,015,548
Ensembl chrNW_004624782:13,009,564...13,015,440
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Il33
interleukin 33
ISO
protein:increased expression:pleural fluid:
RGD
PMID:23301222
RGD:39939042
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:pleura:
RGD
PMID:18715875
RGD:5129700
NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
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Tlr4
toll like receptor 4
ISO
RGD
PMID:18295348
RGD:4144193
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
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Tnc
tenascin C
ISO
protein:increased expression:pleura
RGD
PMID:10950882
RGD:4889594
NCBI chrNW_004624760:20,044,900...20,137,260
Ensembl chrNW_004624760:20,044,826...20,137,616
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Cfh
complement factor H
exacerbates
ISO
RGD
PMID:26802141
RGD:108019050
NCBI chrNW_004624798:3,332,549...3,414,435
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Il17a
interleukin 17A
susceptibility
ISO
associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human)
RGD
PMID:20437253
RGD:4889139
NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136
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Il27
interleukin 27
ISO
associated with influenza A;protein:increased expression:lung (mouse)
RGD
PMID:24408967
RGD:11556418
NCBI chrNW_004624782:13,009,450...13,015,548
Ensembl chrNW_004624782:13,009,564...13,015,440
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Nfkbia
NFKB inhibitor alpha
susceptibility
ISO
DNA:SNP: :(rs1050851) (human) DNA:SNPs:enhancers: (rs3138053, rs2233406) (human)
RGD
PMID:17463416 PMID:29407193
RGD:127285388 RGD:127285391
NCBI chrNW_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205
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Tirap
TIR domain containing adaptor protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17322885
NCBI chrNW_004624812:433,540...445,517
Ensembl chrNW_004624812:439,319...446,646
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Adam17
ADAM metallopeptidase domain 17
treatment
ISO
RGD
PMID:24491581
RGD:13703038
NCBI chrNW_004624969:212,089...254,532
Ensembl chrNW_004624969:212,321...253,328
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Aqp4
aquaporin 4
treatment
ISO
protein:increased expression:brain:
RGD
PMID:15695511
RGD:8698660
NCBI chrNW_004624770:5,581,192...5,593,470
Ensembl chrNW_004624770:5,580,808...5,594,628
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Atm
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:15529270
RGD:126781748
NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216
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Camp
cathelicidin antimicrobial peptide
ISO
protein:increased expression:brain, coronal section (rat)
RGD
PMID:19879657
RGD:2316237
NCBI chrNW_004624730:73,429,893...73,431,104
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Cysltr1
cysteinyl leukotriene receptor 1
disease_progression
ISO
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chrNW_004624836:2,556,269...2,597,008
G
Cysltr2
cysteinyl leukotriene receptor 2
ISO
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chrNW_004624748:6,040,564...6,043,454
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Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:24844751
RGD:39939118
NCBI chrNW_004624780:3,684,941...3,697,506
Ensembl chrNW_004624780:3,685,069...3,697,474
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Il6
interleukin 6
treatment
ISO
protein:increased expression:brain
RGD
PMID:8943431 PMID:11581077 PMID:25443778
RGD:11060264 RGD:11062107 RGD:9831197
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
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Lgals3
galectin 3
ISO
mRNA, protein:increased expression:brain
RGD
PMID:17706429
RGD:9685206
NCBI chrNW_004624731:14,300,138...14,307,843
Ensembl chrNW_004624731:14,298,201...14,304,637
G
Lgals9
galectin 9
ISO
RGD
PMID:17706429
RGD:9685206
NCBI chrNW_004624786:478,048...491,086
G
Marco
macrophage receptor with collagenous structure
ISO
protein:increased expression:meninges, astrocyte
RGD
PMID:21299846
RGD:41412190
NCBI chrNW_004624732:26,203,345...26,236,001
Ensembl chrNW_004624732:26,203,219...26,236,057
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Mmp2
matrix metallopeptidase 2
treatment
ISO
RGD
PMID:24419461
RGD:8657111
NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255
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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 chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
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Nod2
nucleotide binding oligomerization domain containing 2
ISO
mRNA, protein:increased expression:brain
RGD
PMID:25443778
RGD:9831197
NCBI chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103
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Ntrk2
neurotrophic receptor tyrosine kinase 2
ISO
mRNA:increased expression:brain
RGD
PMID:21603940
RGD:5684913
NCBI chrNW_004624809:8,274,736...8,622,287
Ensembl chrNW_004624809:8,276,951...8,616,765
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:brain, nucleus
RGD
PMID:25443778
RGD:9831197
NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272
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Serping1
serpin family G member 1
treatment
ISO
RGD
PMID:17538891
RGD:8661645
NCBI chrNW_004624864:3,091,397...3,103,084
Ensembl chrNW_004624864:3,091,083...3,103,090
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Tlr2
toll like receptor 2
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
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Tlr4
toll like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
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Tnf
tumor necrosis factor
disease_progression
ISO
mRNA:increased expression:brain (rat) protein:increased expression:brain
RGD
PMID:25443778 PMID:31933824
RGD:40903068 RGD:9831197
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Aicda
activation induced cytidine deaminase
ISO
RGD
PMID:26456931
RGD:11098923
NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634
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Alox5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:20231413
RGD:4890435
NCBI chrNW_004624966:168,244...220,430
Ensembl chrNW_004624966:168,250...220,522
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Btk
Bruton tyrosine kinase
ameliorates
ISO
RGD
PMID:30646846
RGD:124715470
NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171
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C3
complement C3
disease_progression
ISO
protein:decreased expression:serum associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion
RGD
PMID:20405 PMID:15972516 PMID:17956621
RGD:5129509 RGD:5129523 RGD:5130163
NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946
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Ccl5
C-C motif chemokine ligand 5
susceptibility
ISO
RGD
PMID:16455992
RGD:4892130
NCBI chrNW_004624875:3,334,136...3,342,085
Ensembl chrNW_004624875:3,334,078...3,341,614
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Cd14
CD14 molecule
ISO
RGD
PMID:17185649
RGD:4144788
NCBI chrNW_004624743:33,372,023...33,374,438
Ensembl chrNW_004624743:33,367,898...33,373,922
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:10515841
RGD:4892626
NCBI chrNW_004624807:7,655,777...7,664,484
Ensembl chrNW_004624807:7,655,620...7,662,362
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Crhr1
corticotropin releasing hormone receptor 1
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chrNW_004624849:2,484,144...2,528,130
Ensembl chrNW_004624849:2,484,109...2,528,223
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Crhr2
corticotropin releasing hormone receptor 2
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chrNW_004624739:114,383...161,010
Ensembl chrNW_004624739:114,342...161,044
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Crp
C-reactive protein
disease_progression
ISO
RGD
PMID:21281676
RGD:5131293
NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:lung
RGD
PMID:20381636
RGD:5135285
NCBI chrNW_004624757:14,995,649...15,009,771
Ensembl chrNW_004624757:14,995,716...15,011,893
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Hmox1
heme oxygenase 1
ISO
associated with influenza;protein:increased expression:lung
RGD
PMID:17348295
RGD:4145366
NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887
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Il15
interleukin 15
ISO
protein:increased expression:alveolar macrophage, bronchial epithelial cell
RGD
PMID:17611121
RGD:5000755
NCBI chrNW_004624853:1,059,625...1,144,799
Ensembl chrNW_004624853:1,128,519...1,144,941
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Il15ra
interleukin 15 receptor subunit alpha
ISO
RGD
PMID:17611121
RGD:5000755
NCBI chrNW_004624775:846,063...877,894
Ensembl chrNW_004624775:847,677...877,604
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Il17a
interleukin 17A
ISO
RGD
PMID:19995896
RGD:4888531
NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136
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Il18
interleukin 18
ISO
RGD
PMID:15770015
RGD:4889960
NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
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Il6
interleukin 6
ISO
RGD
PMID:20643849
RGD:4143255
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
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Lep
leptin
ISO
RGD
PMID:17822444
RGD:5128869
NCBI chrNW_004624783:7,708,820...7,721,610
Ensembl chrNW_004624783:7,708,588...7,721,727
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Lepr
leptin receptor
ISO
RGD
PMID:21148797
RGD:5128846
NCBI chrNW_004624742:29,221,742...29,313,273
Ensembl chrNW_004624742:29,223,392...29,337,049
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Mapk1
mitogen-activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chrNW_004624747:1,296,062...1,389,674
Ensembl chrNW_004624747:1,296,221...1,389,757
G
Mapk3
mitogen-activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chrNW_004624782:13,150,824...13,158,327
Ensembl chrNW_004624782:13,152,039...13,159,113
G
Masp2
MBL associated serine protease 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12904520
NCBI chrNW_004624818:1,745,401...1,759,051
G
Mbl2
mannose binding lectin 2
no_association
ISO
DNA:polymorphisms:5' utr, exon:multiple (human) DNA:mutations:5' utr, exon:multiple (human)
RGD
PMID:12047967 PMID:18641104
RGD:4889477 RGD:4889478
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
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Nos2
nitric oxide synthase 2
ISO
RGD
PMID:17056580
RGD:4891950
NCBI chrNW_004624786:491,944...530,427
Ensembl chrNW_004624786:489,311...528,271
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Pten
phosphatase and tensin homolog
ameliorates
ISO
myeloid knockout
RGD
PMID:20505137
RGD:127285597
NCBI chrNW_004624791:13,975,235...14,056,900
G
Sftpd
surfactant protein D
severity
ISO
RGD
PMID:16255775
RGD:4143519
NCBI chrNW_004624841:6,917,067...6,938,594
Ensembl chrNW_004624841:6,916,849...6,936,077
G
Sirt1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chrNW_004624754:2,304,476...2,332,705
Ensembl chrNW_004624754:2,304,634...2,330,946
G
Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29263110
RGD:39128230
NCBI chrNW_004624743:32,277,197...32,283,346
Ensembl chrNW_004624743:32,273,385...32,283,235
G
Tlr2
toll like receptor 2
ISO
RGD
PMID:19956717
RGD:4145321
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
G
Tnf
tumor necrosis factor
ISO
associated with influenza;protein:increased expression:lung
RGD
PMID:9032201 PMID:17348295
RGD:4143479 RGD:4145366
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Ada
adenosine deaminase
ISO
protein:increased expression:plasma, respiratory system fluid/secretion protein:increased activity:blood, pulmonary alveolar duct protein:increased activity:sputum:
RGD
PMID:2212911 PMID:12194640 PMID:19460251
RGD:152995271 RGD:152995390 RGD:5128854
NCBI chrNW_004624790:9,809,550...9,829,199
Ensembl chrNW_004624790:9,809,492...9,829,883
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Ada2
adenosine deaminase 2
ISO
protein:increased activity:sputum:
RGD
PMID:19460251
RGD:152995271
NCBI chrNW_004624735:10,023,330...10,052,600
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:plasma
RGD
PMID:22022605
RGD:5686405
NCBI chrNW_004624730:69,941,963...69,959,266
Ensembl chrNW_004624730:69,941,001...69,957,012
G
Akt1
AKT serine/threonine kinase 1
susceptibility
ISO
DNA:SNP,haplotype:intron: IVS3+18 C/C (human)
RGD
PMID:20141546
RGD:38676498
NCBI chrNW_004624734:507,880...525,295
Ensembl chrNW_004624734:509,368...525,295
G
Alox5
arachidonate 5-lipoxygenase
susceptibility
ISO
DNA:polymorphism, repeat:promoter, exon:g.760G>A (human)
RGD
PMID:18174194
RGD:4890411
NCBI chrNW_004624966:168,244...220,430
Ensembl chrNW_004624966:168,250...220,522
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Asap1
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25774636
NCBI chrNW_004624735:25,410,002...25,732,847
Ensembl chrNW_004624735:25,409,902...25,732,967
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Atf3
activating transcription factor 3
ISO
mRNA,protein:increased expression:lung
RGD
PMID:20856677
RGD:34888225
NCBI chrNW_004624771:18,009,111...18,060,796
Ensembl chrNW_004624771:18,050,039...18,060,802
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C3
complement C3
ISO
RGD
PMID:19472039
RGD:5129500
NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946
G
Ccl1
C-C motif chemokine ligand 1
susceptibility
ISO
DNA:SNP: :multiple (human) mRNA:increased expression:lung, dendritic cell
RGD
PMID:18703681 PMID:19057661
RGD:4891408 RGD:4891409
NCBI chrNW_004624875:2,224,784...2,229,465
G
Ccl19
C-C motif chemokine ligand 19
ISO
mRNA:increased expression:lung
RGD
PMID:19933855
RGD:5130906
NCBI chrNW_004624736:39,088,741...39,090,745
Ensembl chrNW_004624736:39,088,921...39,090,394
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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:15128813 PMID:19335954
RGD:4891879 RGD:4892112
NCBI chrNW_004624875:3,334,136...3,342,085
Ensembl chrNW_004624875:3,334,078...3,341,614
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Cd14
CD14 molecule
susceptibility
ISO
DNA:polymorphism:promoter:c. -159C>T (human) protein:increased expression:monocyte, serum
RGD
PMID:18008256
RGD:4144205
NCBI chrNW_004624743:33,372,023...33,374,438
Ensembl chrNW_004624743:33,367,898...33,373,922
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Cd163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood serum (human) protein:increased expression:blood plasma, CD14-positive monocyte (human)
RGD
PMID:27684274 PMID:27685837
RGD:127285801 RGD:127345136
NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349
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Cd274
CD274 molecule
ISO
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793
RGD:40818418
NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814
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Cd36
CD36 molecule (CD36 blood group)
susceptibility
ISO
DNA:SNPs: :rs1194182, rs10499859(human)
RGD
PMID:28693442
RGD:41412192
NCBI chrNW_004624739:29,341,620...29,441,232
Ensembl chrNW_004624739:29,407,568...29,441,333
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Cd86
CD86 molecule
ISO
protein:decreased expression:sputum, macrophage (human)
RGD
PMID:17713660
RGD:4892339
NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712
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Crp
C-reactive protein
severity
ISO
associated with HIV Infections
RGD
PMID:21197091 PMID:21219690
RGD:5131284 RGD:5131287
NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804
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Cxcl10
C-X-C motif chemokine ligand 10
treatment
ISO
RGD
PMID:29843631
RGD:27095956
NCBI chrNW_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910
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Cxcl8
C-X-C motif chemokine ligand 8
exacerbates
ISO
protein:increased expression:serum (human) RNA:increased expression:blood plasma (human)
RGD
PMID:16001981 PMID:27434276
RGD:150523784 RGD:39939055
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
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Ddit3
DNA damage inducible transcript 3
ISO
mRNA,protein:increased expression:lung
RGD
PMID:20856677
RGD:34888225
NCBI chrNW_004624802:10,437,998...10,443,278
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Egfr
epidermal growth factor receptor
disease_progression
ISO
associated with lung adenocarcinoma;
RGD
PMID:22173705 PMID:29621876
RGD:38599162 RGD:38599176
NCBI chrNW_004624740:584,133...713,205
Ensembl chrNW_004624740:589,606...713,271
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Ereg
epiregulin
susceptibility
ISO
DNA:SNP:exon 4: (rs2367707) (human)
RGD
PMID:30634928
RGD:39457687
NCBI chrNW_004624730:1,339,017...1,353,869
Ensembl chrNW_004624730:1,339,518...1,353,429
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Foxp3
forkhead box P3
susceptibility
ISO
DNA:polymorphism:promoter:-924A>G(human)
RGD
PMID:29020928
RGD:38501101
NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679
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Gbe1
1,4-alpha-glucan branching enzyme 1
ISO
DNA:SNP:intron:rs2307058 (human)
RGD
PMID:28355295
RGD:18337291
NCBI chrNW_004624874:2,157,291...2,444,786
Ensembl chrNW_004624874:2,157,524...2,444,111
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Havcr2
hepatitis A virus cellular receptor 2
ISO
RGD
PMID:21382414
RGD:5135524
NCBI chrNW_004624733:32,521,318...32,527,499
G
Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:32369456
RGD:39939073
NCBI chrNW_004624780:3,684,941...3,697,506
Ensembl chrNW_004624780:3,685,069...3,697,474
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Il13
interleukin 13
ISO
mRNA:increased expression:Leukocytes, Mononuclear
RGD
PMID:10608794
RGD:4145649
NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843
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Il15
interleukin 15
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11742275
RGD:4990461
NCBI chrNW_004624853:1,059,625...1,144,799
Ensembl chrNW_004624853:1,128,519...1,144,941
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Il18
interleukin 18
ISO
protein:increased expression:serum
RGD
PMID:15955140
RGD:4889836
NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:9176116
RGD:4142835
NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154
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Il1b
interleukin 1 beta
severity susceptibility
ISO
protein:increased expression:lung protein:increased expression:bronchioalveolar lavage fluid (human) DNA:polymorphism: :3953T>C (human)
RGD
PMID:10543265 PMID:10631206 PMID:16634865
RGD:4143179 RGD:4143180 RGD:5147843
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
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Il1rl1
interleukin 1 receptor like 1
ISO
RGD
PMID:28128217
RGD:39938965
NCBI chrNW_004624749:6,795,822...6,873,068
Ensembl chrNW_004624749:6,795,748...6,873,701
G
Il1rn
interleukin 1 receptor antagonist
severity
ISO
protein:increased expression:lung, serum
RGD
PMID:10543265 PMID:10631206 PMID:14619382
RGD:4143174 RGD:4143179 RGD:4143180
NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890
G
Il23a
interleukin 23 subunit alpha
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:11801672 PMID:16002675 PMID:20624887 PMID:21156751
RGD:39457949 RGD:39457953 RGD:39458036 RGD:39458038
NCBI chrNW_004624802:11,662,851...11,664,444
Ensembl chrNW_004624802:11,662,753...11,665,418
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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:30948177 PMID:31949807
RGD:126790508 RGD:39456132
NCBI chrNW_004624782:13,009,450...13,015,548
Ensembl chrNW_004624782:13,009,564...13,015,440
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Il27ra
interleukin 27 receptor subunit alpha
ISO
RGD
PMID:15749890
RGD:5128486
NCBI chrNW_004624901:1,274,753...1,288,783
Ensembl chrNW_004624901:1,274,840...1,287,861
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Il33
interleukin 33
ISO
RGD
PMID:28128217
RGD:39938965
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
G
Il4
interleukin 4
severity
ISO
RGD
PMID:20832364
RGD:5128550
NCBI chrNW_004624733:39,412,800...39,420,079
G
Il4r
interleukin 4 receptor
ISO
protein:decreased expression:serum
RGD
PMID:21251883
RGD:5128510
NCBI chrNW_004624782:11,981,781...12,008,362
G
Il6
interleukin 6
ISO
RGD
PMID:20624776
RGD:4143257
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
G
Il6r
interleukin 6 receptor
ISO
protein:decreased expression:T cell
RGD
PMID:20019339
RGD:5128632
NCBI chrNW_004624885:2,910,367...2,946,916
Ensembl chrNW_004624885:2,910,112...2,946,886
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Irf1
interferon regulatory factor 1
ISO
RGD
PMID:11083808
RGD:5128719
NCBI chrNW_004624733:39,596,565...39,603,428
Ensembl chrNW_004624733:39,596,501...39,603,526
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Itih4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:urine
RGD
PMID:29636444
RGD:40903003
NCBI chrNW_004624822:4,397,704...4,411,562
Ensembl chrNW_004624822:4,397,744...4,411,406
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
protein:decreased phosphorylation:macrophage, nucleus
RGD
PMID:19737230
RGD:4889999
NCBI chrNW_004624862:1,537,886...1,540,633
Ensembl chrNW_004624862:1,538,455...1,539,426
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LOC101697345
HLA class II histocompatibility antigen, DP beta 1 chain
ISO
RGD
PMID:18652916
RGD:5144001
NCBI chrNW_004624754:23,661,031...23,672,549
Ensembl chrNW_004624754:23,658,339...23,672,663
G
LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
susceptibility disease_progression
ISO
DNA:polymorphism:cds:HLA-DQB1*0201(human) DNA:polymorphisms (human) DNA:polymorphism: :HLA-DQB1*3:03(human)
RGD
PMID:19230186 PMID:24024195 PMID:28612994
RGD:36049753 RGD:36049765 RGD:5147614
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
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LOC101717043
cytochrome b-245 light chain
no_association
ISO
DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human)
RGD
PMID:16608528
RGD:4780358
NCBI chrNW_004624746:911,852...919,361
Ensembl chrNW_004624746:911,842...919,362
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Lta
lymphotoxin alpha
susceptibility
ISO
DNA:polymorphism:intron:252G>A (human)
RGD
PMID:20180006
RGD:4143234
NCBI chrNW_004624754:24,626,930...24,628,412
Ensembl chrNW_004624754:24,627,318...24,628,182
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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:23617307 PMID:27853145 PMID:28693442
RGD:41412192 RGD:41412194 RGD:41412195
NCBI chrNW_004624732:26,203,345...26,236,001
Ensembl chrNW_004624732:26,203,219...26,236,057
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Mbl2
mannose binding lectin 2
ISO
DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:19199550
RGD:4889452
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
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Mif
macrophage migration inhibitory factor
susceptibility
ISO
DNA:SNP: :rs755622 (human)
RGD
PMID:20439102
RGD:4891004
NCBI chrNW_004624747:10,307,826...10,308,649
Ensembl chrNW_004624747:10,303,919...10,308,821
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Mmp3
matrix metallopeptidase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chrNW_004624878:39,282...47,386
Ensembl chrNW_004624878:39,358...47,075
G
Mmp7
matrix metallopeptidase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chrNW_004624878:345,038...364,986
Ensembl chrNW_004624878:345,038...361,652
G
Mmp8
matrix metallopeptidase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chrNW_004624878:124,396...174,584
Ensembl chrNW_004624878:164,171...175,654
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:16982845
RGD:5130746
NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
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Nfkbia
NFKB inhibitor alpha
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:9379002
RGD:126908014
NCBI chrNW_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205
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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 chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103
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Nos2
nitric oxide synthase 2
ISO
DNA:SNPs:multiple (human)
RGD
PMID:19575238
RGD:4144122
NCBI chrNW_004624786:491,944...530,427
Ensembl chrNW_004624786:489,311...528,271
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Pdcd1
programmed cell death 1
treatment
ISO
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793
RGD:40818418
NCBI chrNW_004624847:5,732,922...5,741,908
Ensembl chrNW_004624847:5,732,767...5,742,269
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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 chrNW_004624736:10,049,428...10,056,849
G
Plaur
plasminogen activator, urokinase receptor
severity
ISO
RGD
PMID:18359089
RGD:6483832
NCBI chrNW_004624907:1,174,648...1,188,919
Ensembl chrNW_004624907:1,174,448...1,189,377
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Ptpn22
protein tyrosine phosphatase non-receptor type 22
ISO
DNA:SNPs:cds:788G>A, 1858C>T (human)
RGD
PMID:19563523
RGD:6484723
NCBI chrNW_004624772:9,472,869...9,552,751
Ensembl chrNW_004624772:9,472,913...9,550,990
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Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
DNA:polymorphism:intron (human) DNA:deletion:3'UTR:
RGD
PMID:21169917 PMID:24024195
RGD:36049753 RGD:5684974
NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300
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Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
associated with HIV Infections;
RGD
PMID:21843574
RGD:6482248
NCBI chrNW_004624754:23,815,464...23,822,480
Ensembl chrNW_004624754:23,815,915...23,822,827
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Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:9062973
RGD:5147851
NCBI chrNW_004624754:23,827,782...23,845,690
Ensembl chrNW_004624754:23,827,706...23,837,356
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Tlr1
toll like receptor 1
ISO
mRNA:increased expression:blood
RGD
PMID:16493059
RGD:4889525
NCBI chrNW_004624840:7,287,772...7,349,282
Ensembl chrNW_004624840:7,287,781...7,290,162
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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:19552525 PMID:19723394 PMID:20113509 PMID:20298136
RGD:4145304 RGD:4145320 RGD:4145323 RGD:4145355
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
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Tlr4
toll like receptor 4
susceptibility severity
ISO
DNA:SNP:intron: rs5030729 (human) protein:increased expression:monocyte DNA:polymorphisms:cds: p. D299F, T399I (human)
RGD
PMID:18008256 PMID:19575238 PMID:20403143
RGD:4144106 RGD:4144122 RGD:4144205
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
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Tnf
tumor necrosis factor
susceptibility disease_progression
ISO
DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human)
RGD
PMID:9176116 PMID:18212516 PMID:20650298
RGD:4142835 RGD:4143388 RGD:4143395
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNPs:5' UTR (human) DNA:SNPs (human) DNA:SNPs:promoter, 3' UTR (human) DNA:SNP (human)
RGD
PMID:15295697 PMID:17236578 PMID:18231846 PMID:18397302 PMID:20231985
RGD:4889830 RGD:4889842 RGD:4889845 RGD:4889849 RGD:4889853
NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514
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Il4r
interleukin 4 receptor
ISO
protein:decreased expression:serum DNA:polymorphism:cds:p.I50V (human)
RGD
PMID:19548368 PMID:21251883
RGD:5128510 RGD:7207069
NCBI chrNW_004624782:11,981,781...12,008,362
G
Gc
GC vitamin D binding protein
ISO
RGD
PMID:2737695
RGD:5509933
NCBI chrNW_004624890:3,274,239...3,318,281
Ensembl chrNW_004624890:3,226,900...3,318,316
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:14567831
RGD:13702910
NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
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LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
ISO
DNA:polymorphisms, haplotypes:multiple
RGD
PMID:17559688
RGD:5147792
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
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Acta2
actin alpha 2, smooth muscle
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chrNW_004624791:15,243,074...15,259,362
Ensembl chrNW_004624791:15,242,432...15,259,508
G
Bax
BCL2 associated X, apoptosis regulator
ISO
mRNA:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506
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Cd36
CD36 molecule (CD36 blood group)
ISO
mRNA:decreased expression:blood, mononuclear cell
RGD
PMID:16741676
RGD:6893529
NCBI chrNW_004624739:29,341,620...29,441,232
Ensembl chrNW_004624739:29,407,568...29,441,333
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Col1a1
collagen type I alpha 1 chain
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071
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Col3a1
collagen type III alpha 1 chain
ISO
mRNA:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chrNW_004624899:1,192,078...1,230,528
Ensembl chrNW_004624899:1,192,360...1,230,404
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Fcn3
ficolin 3
ISO
ClinVar Annotator: match by term: Rheumatic heart disease
ClinVar
NCBI chrNW_004624764:11,265,740...11,269,588
Ensembl chrNW_004624764:11,265,505...11,269,650
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
RGD
PMID:26823728
RGD:13792679
NCBI chrNW_004624860:3,257,805...3,261,736
Ensembl chrNW_004624860:3,257,853...3,261,735
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Igf1
insulin like growth factor 1
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300
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Il10
interleukin 10
no_association
ISO
RGD
PMID:16043936
RGD:1598626
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
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Inhba
inhibin subunit beta A
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chrNW_004624740:19,458,835...19,482,570
Ensembl chrNW_004624740:19,464,289...19,482,888
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Lef1
lymphoid enhancer binding factor 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chrNW_004624830:1,320,034...1,422,774
Ensembl chrNW_004624830:1,321,387...1,424,389
G
LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
ISO
DNA:polymorphisms:cds:HLA-DQB1*08 (human)
RGD
PMID:17578051
RGD:5147630
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
G
Snai1
snail family transcriptional repressor 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chrNW_004624790:5,509,541...5,515,240
Ensembl chrNW_004624790:5,509,311...5,515,266
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Socs1
suppressor of cytokine signaling 1
treatment
ISO
RGD
PMID:31894293
RGD:151347417
NCBI chrNW_004624824:8,444,877...8,446,628
G
Twist1
twist family bHLH transcription factor 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chrNW_004624739:11,352,040...11,354,019
Ensembl chrNW_004624739:11,352,141...11,352,809
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Zeb1
zinc finger E-box binding homeobox 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chrNW_004624805:3,964,448...4,044,546
Ensembl chrNW_004624805:3,964,450...4,042,527
G
Zeb2
zinc finger E-box binding homeobox 2
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chrNW_004624732:44,097,348...44,226,701
Ensembl chrNW_004624732:44,101,613...44,139,997
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Gsn
gelsolin
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:25403731
RGD:329333026
NCBI chrNW_004624760:13,943,680...14,004,660
Ensembl chrNW_004624760:13,943,888...13,969,905
G
Icam1
intercellular adhesion molecule 1
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
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Sele
selectin E
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chrNW_004624826:7,624,852...7,635,330
Ensembl chrNW_004624826:7,626,380...7,635,309
G
Vcam1
vascular cell adhesion molecule 1
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chrNW_004624857:3,606,573...3,625,991
Ensembl chrNW_004624857:3,606,431...3,627,063
G
Sting1
stimulator of interferon response cGAMP interactor 1
severity
ISO
RGD
PMID:31141689
RGD:39128194
NCBI chrNW_004624743:32,277,197...32,283,346
Ensembl chrNW_004624743:32,273,385...32,283,235
G
Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8186310
NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521
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Cd163
CD163 molecule
exacerbates
ISO
RGD
PMID:32199911
RGD:127285678
NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349
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Cd36
CD36 molecule (CD36 blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15690042
NCBI chrNW_004624739:29,341,620...29,441,232
Ensembl chrNW_004624739:29,407,568...29,441,333
G
Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27737899
NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23661603
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
G
Il10
interleukin 10
treatment
ISO
RGD
PMID:23993644
RGD:7364979
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
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Il2
interleukin 2
ISO
RGD
PMID:21603642
RGD:5147906
NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453
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Il4
interleukin 4
susceptibility
ISO
DNA:SNP:promoter:-542C>T (human)
RGD
PMID:18422436
RGD:7829791
NCBI chrNW_004624733:39,412,800...39,420,079
G
Irak3
interleukin 1 receptor associated kinase 3
treatment
ISO
RGD
PMID:28954388
RGD:34888230
NCBI chrNW_004624802:2,042,486...2,098,921
Ensembl chrNW_004624802:2,047,409...2,098,545
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Ltf
lactotransferrin
ISO
RGD
PMID:10030017
RGD:7243953
NCBI chrNW_004624730:74,636,554...74,656,817
Ensembl chrNW_004624730:74,636,522...74,656,886
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Stat2
signal transducer and activator of transcription 2
ameliorates
ISO
associated with influenza A
RGD
PMID:30337919
RGD:41789626
NCBI chrNW_004624802:11,645,851...11,662,812
Ensembl chrNW_004624802:11,648,020...11,660,216
G
Tlr2
toll like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23661603
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
G
Xrn1
5'-3' exoribonuclease 1
susceptibility
ISO
DNA:snp:intron:c.2339+1477G>A (rs7643377) (human)
RGD
PMID:24847357
RGD:11530009
NCBI chrNW_004624730:18,903,506...19,021,392
Ensembl chrNW_004624730:18,907,959...19,020,724
G
Akt1
AKT serine/threonine kinase 1
treatment
ISO
RGD
PMID:23613163
RGD:38676477
NCBI chrNW_004624734:507,880...525,295
Ensembl chrNW_004624734:509,368...525,295
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Cd86
CD86 molecule
ISO
protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse)
RGD
PMID:20949109
RGD:4892562
NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712
G
Cftr
CF transmembrane conductance regulator
ISO
RGD
PMID:28289144
RGD:36049750
NCBI chrNW_004624827:1,704,733...1,893,579
G
Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:10228098
RGD:11039478
NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594
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Fn1
fibronectin 1
ISO
RGD
PMID:12065530
RGD:7205474
NCBI chrNW_004624765:707,872...775,056
Ensembl chrNW_004624765:707,755...775,056
G
Ifnar1
interferon alpha and beta receptor subunit 1
susceptibility
ISO
RGD
PMID:19603548
RGD:5490273
NCBI chrNW_004624745:21,545,846...21,569,719
Ensembl chrNW_004624745:21,546,007...21,572,776
G
Il10
interleukin 10
ISO
mRNA, protein:increased expression:lung
RGD
PMID:22940620
RGD:7364825
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
G
Il15
interleukin 15
ISO
RGD
PMID:18390740
RGD:4996474
NCBI chrNW_004624853:1,059,625...1,144,799
Ensembl chrNW_004624853:1,128,519...1,144,941
G
Il1b
interleukin 1 beta
ISO
RGD
PMID:20065029
RGD:4142828
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
G
Il33
interleukin 33
ISO
mRNA:increased expression:lung:
RGD
PMID:28401938
RGD:40400699
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
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Nod2
nucleotide binding oligomerization domain containing 2
ISO
RGD
PMID:20493961
RGD:5131444
NCBI chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
protein:increased expression:lung (mouse)
RGD
PMID:28663335
RGD:13432209
NCBI chrNW_004624855:430,148...1,992,121
Ensembl chrNW_004624855:430,260...1,989,747
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Ptpn11
protein tyrosine phosphatase non-receptor type 11
severity
ISO
mRNA:increased expression:lung associated with influenza
RGD
PMID:31782850
RGD:39131288
NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670
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Ripk3
receptor interacting serine/threonine kinase 3
treatment
ISO
RGD
PMID:25445964
RGD:127229910
NCBI chrNW_004624820:8,165,546...8,169,172
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Sftpb
surfactant protein B
ameliorates
ISO
RGD
PMID:20007532
RGD:151667448
NCBI chrNW_004624749:17,486,483...17,495,822
Ensembl chrNW_004624749:17,486,518...17,493,846
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Il17a
interleukin 17A
ISO
RGD
PMID:24614654
RGD:9068425
NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136
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Il18
interleukin 18
treatment
ISO
RGD
PMID:21536791
RGD:8655921
NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
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Il33
interleukin 33
treatment
ISO
mRNA,protein:increased expression:skin
RGD
PMID:23892028
RGD:40400893
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
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Ripk3
receptor interacting serine/threonine kinase 3
ameliorates
ISO
RGD
PMID:27524612
RGD:127229915
NCBI chrNW_004624820:8,165,546...8,169,172
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Serpinf1
serpin family F member 1
severity
ISO
RGD
PMID:25515118
RGD:36174009
NCBI chrNW_004624786:4,487,005...4,497,706
Ensembl chrNW_004624786:4,486,978...4,497,585
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Cd86
CD86 molecule
ISO
associated with Encephalomyelitis, Experimental Autoimmune; protein:increased expression:spleen, dendritic cell (mouse)
RGD
PMID:16861672
RGD:4892553
NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712
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Il17a
interleukin 17A
ISO
protein:increased expression:serum (mouse)
RGD
PMID:22384827
RGD:8698662
NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136
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Tlr2
toll like receptor 2
severity
ISO
RGD
PMID:19179417
RGD:7240559
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
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Tnf
tumor necrosis factor
ISO
associated with Otitis Media
RGD
PMID:8302123
RGD:11554174
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Atm
ATM serine/threonine kinase
exacerbates
ISO
RGD
PMID:27421701
RGD:126779562
NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216
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Btk
Bruton tyrosine kinase
ISO
RGD
PMID:30873567
RGD:124715473
NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:20385761
RGD:39938865
NCBI chrNW_004624780:3,684,941...3,697,506
Ensembl chrNW_004624780:3,685,069...3,697,474
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Ifng
interferon gamma
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
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Il6
interleukin 6
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
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Irak3
interleukin 1 receptor associated kinase 3
severity
ISO
RGD
PMID:22492852
RGD:35316076
NCBI chrNW_004624802:2,042,486...2,098,921
Ensembl chrNW_004624802:2,047,409...2,098,545
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Itgb2
integrin subunit beta 2
susceptibility
ISO
RGD
PMID:11390487
RGD:127345090
NCBI chrNW_004624745:30,452,576...30,479,036
Ensembl chrNW_004624745:30,452,576...30,470,611
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Lamp1
lysosomal associated membrane protein 1
ISO
protein:increased expression:lung, natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chrNW_004624793:661,322...675,603
Ensembl chrNW_004624793:661,342...675,675
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Marco
macrophage receptor with collagenous structure
exacerbates
ISO
RGD
PMID:15263032
RGD:41412189
NCBI chrNW_004624732:26,203,345...26,236,001
Ensembl chrNW_004624732:26,203,219...26,236,057
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:25624454
RGD:40818422
NCBI chrNW_004624847:5,732,922...5,741,908
Ensembl chrNW_004624847:5,732,767...5,742,269
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
treatment
ISO
associated with immunodeficiency 14
RGD
PMID:30093657
RGD:40890269
NCBI chrNW_004624818:2,751,724...2,789,145
Ensembl chrNW_004624818:2,751,724...2,779,999
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
severity
ISO
RGD
PMID:17322108
RGD:38599154
NCBI chrNW_004624739:22,737,376...22,772,696
Ensembl chrNW_004624739:22,737,270...22,772,589
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Ripk3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:33625952
RGD:127229925
NCBI chrNW_004624820:8,165,546...8,169,172
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Tnf
tumor necrosis factor
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:9062973
RGD:5147851
NCBI chrNW_004624754:23,827,782...23,845,690
Ensembl chrNW_004624754:23,827,706...23,837,356
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Ager
advanced glycosylation end-product specific receptor
severity
ISO
RGD
PMID:22698798
RGD:6767307
NCBI chrNW_004624754:24,138,086...24,140,900
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Cbs
cystathionine beta-synthase
severity
ISO
protein:increased expression:macrophages (mouse)
RGD
PMID:31992699
RGD:40903052
NCBI chrNW_004624745:27,676,430...27,687,573
Ensembl chrNW_004624745:27,673,748...27,688,462
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Ccl1
C-C motif chemokine ligand 1
susceptibility
ISO
DNA:SNP: :rs159294, rs210837, rs10491110 (human)
RGD
PMID:19057661
RGD:4891408
NCBI chrNW_004624875:2,224,784...2,229,465
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Cd274
CD274 molecule
ISO
mRNA, protein:increased expression:blood, neutrophil
RGD
PMID:21509782
RGD:41412173
NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814
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Cd86
CD86 molecule
ISO
protein:increased expression:lung (mouse)
RGD
PMID:18292558
RGD:4892329
NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712
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Cd8a
CD8 subunit alpha
susceptibility
ISO
associated with human immunodeficiency virus infectious disease;mRNA:increased expression:whole blood (human) mRNA:decreased expression:blood (human)
RGD
PMID:26725873 PMID:27553407
RGD:124715445 RGD:124715450
NCBI chrNW_004624749:16,564,944...16,569,890
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Cebpb
CCAAT enhancer binding protein beta
ISO
mRNA:increased expression:lung, spleen (mouse)
RGD
PMID:28558034
RGD:40903038
NCBI chrNW_004624790:5,367,808...5,369,686
Ensembl chrNW_004624790:5,368,349...5,369,377
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Ciita
class II major histocompatibility complex transactivator
susceptibility
ISO
knockouts show increased susceptibility to infection by all available criteria including mycobacterial growth, lung damage and survival time
RGD
PMID:12828554
RGD:5491205
NCBI chrNW_004624824:8,099,877...8,156,661
Ensembl chrNW_004624824:8,116,537...8,153,482
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Cish
cytokine inducible SH2 containing protein
susceptibility
ISO
ClinVar Annotator: match by term: Tuberculosis, susceptibility to
OMIM ClinVar
PMID:20484391
NCBI chrNW_004624730:4,434,817...4,440,269
Ensembl chrNW_004624730:4,435,847...4,440,143
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Coro1a
coronin 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16040207
NCBI chrNW_004624782:13,106,416...13,111,394
Ensembl chrNW_004624782:13,105,153...13,111,357
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Cxcl8
C-X-C motif chemokine ligand 8
susceptibility
ISO
DNA:SNP:promoter:-251A>T (human) protein:increased expression:blood plasma, erythrocyte (human)
RGD
PMID:26300588 PMID:32393145
RGD:11250849 RGD:150520198
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:serum
RGD
PMID:19281538
RGD:5135308
NCBI chrNW_004624757:14,995,649...15,009,771
Ensembl chrNW_004624757:14,995,716...15,011,893
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Ereg
epiregulin
susceptibility
ISO
DNA:SNP:intron: (rs7675690) (human)
RGD
PMID:22170233
RGD:39457686
NCBI chrNW_004624730:1,339,017...1,353,869
Ensembl chrNW_004624730:1,339,518...1,353,429
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Has1
hyaluronan synthase 1
ISO
RGD
PMID:19876387
RGD:9588638
NCBI chrNW_004624832:3,327,626...3,341,928
Ensembl chrNW_004624832:3,329,920...3,336,290
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Ifng
interferon gamma
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against
OMIM ClinVar
PMID:10663562 PMID:11053629 PMID:12788577 PMID:18414898
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
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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
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 More...
NCBI chrNW_004624886:618,372...640,954
Ensembl chrNW_004624886:618,289...642,928
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Il12rb1
interleukin 12 receptor subunit beta 1
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar
PMID:9603733 PMID:12591909 PMID:28492532
NCBI chrNW_004624908:1,472,059...1,481,423
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Il15
interleukin 15
ISO
mRNA:altered expression:lung, spleen
RGD
PMID:16367949
RGD:4987456
NCBI chrNW_004624853:1,059,625...1,144,799
Ensembl chrNW_004624853:1,128,519...1,144,941
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Il22
interleukin 22
ISO
RGD
PMID:21767990
RGD:5147402
NCBI chrNW_004624802:46,585...51,095
Ensembl chrNW_004624802:46,585...51,095
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Il27
interleukin 27
exacerbates
ISO
mRNA:increased expression:blood (human) associated with Pleural Effusion;protein:increased expression:pleural effusion (human)
RGD
PMID:25511588 PMID:26282876
RGD:11086047 RGD:126790514
NCBI chrNW_004624782:13,009,450...13,015,548
Ensembl chrNW_004624782:13,009,564...13,015,440
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Il33
interleukin 33
ISO
associated with Pleural Effusion;protein:increased expression:pleural biopsy
RGD
PMID:25755791
RGD:40400701
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
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Irak3
interleukin 1 receptor associated kinase 3
ISO
mRNA, protein:increased expression:sputum (human)
RGD
PMID:19535630
RGD:36049800
NCBI chrNW_004624802:2,042,486...2,098,921
Ensembl chrNW_004624802:2,047,409...2,098,545
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Irgm
immunity related GTPase M
ISO
OMIM
NCBI chrNW_004624733:41,241,488...41,248,162
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LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
susceptibility
ISO
associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-DQB1*05
RGD
PMID:19030725
RGD:36049809
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
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Mapkapk3
MAPK activated protein kinase 3
ISO
ClinVar Annotator: match by term: Tuberculosis, susceptibility to
ClinVar
PMID:20484391
NCBI chrNW_004624730:4,446,815...4,492,753
Ensembl chrNW_004624730:4,446,850...4,476,630
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
ISO
DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human)
RGD
PMID:31586142
RGD:42722614
NCBI chrNW_004624787:14,355,330...14,381,353
Ensembl chrNW_004624787:14,355,791...14,381,251
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Nrg1
neuregulin 1
susceptibility
ISO
DNA:SNP, haplotype: (rs16879814)
RGD
PMID:25919455
RGD:39456091
NCBI chrNW_004624780:11,297,306...11,525,236
Ensembl chrNW_004624780:11,301,182...12,424,066
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:27865385
RGD:41412174
NCBI chrNW_004624847:5,732,922...5,741,908
Ensembl chrNW_004624847:5,732,767...5,742,269
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
RGD
PMID:30514491
RGD:38599199
NCBI chrNW_004624739:22,737,376...22,772,696
Ensembl chrNW_004624739:22,737,270...22,772,589
G
Ripk3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:29892302
RGD:127229926
NCBI chrNW_004624820:8,165,546...8,169,172
G
Slc11a1
solute carrier family 11 member 1
susceptibility
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by
OMIM ClinVar
PMID:16103355 PMID:25741868
NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300
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Sp110
SP110 nuclear body protein
susceptibility
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar OMIM
PMID:16803959 PMID:16816019 PMID:17149599 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chrNW_004624843:3,894,200...3,919,417
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:15863395
RGD:1581371
NCBI chrNW_004624872:4,505,796...4,513,247
Ensembl chrNW_004624872:4,505,522...4,513,742
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29791904
RGD:39128196
NCBI chrNW_004624743:32,277,197...32,283,346
Ensembl chrNW_004624743:32,273,385...32,283,235
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Tirap
TIR domain containing adaptor protein
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
OMIM ClinVar
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868
NCBI chrNW_004624812:433,540...445,517
Ensembl chrNW_004624812:439,319...446,646
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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 chrNW_004624840:7,287,772...7,349,282
Ensembl chrNW_004624840:7,287,781...7,290,162
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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 chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
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Tlr4
toll like receptor 4
ISO
RGD
PMID:12218133
RGD:4144821
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
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Tlr6
toll like receptor 6
susceptibility
ISO
DNA:missense mutations:cds:multiple (human)
RGD
PMID:18091991
RGD:7246918
NCBI chrNW_004624840:7,323,022...7,349,334
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:20537163
RGD:4143229
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
DNA:snp:3' utr:g.*215C>T rs3397 (human)
RGD
PMID:20007930
RGD:5131209
NCBI chrNW_004624818:894,470...922,806
Ensembl chrNW_004624818:896,150...922,710
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30202016
NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522
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Vdr
vitamin D receptor
susceptibility
ISO
associated with HIV Infections;DNA:SNPs:3' UTR (human)
RGD
PMID:18712587
RGD:4889839
NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514
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Cd163
CD163 molecule
ISO
protein:increased expression:duodenum, macrophage (human)
RGD
PMID:19664628
RGD:149735573
NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all