RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Gram-Positive Bacterial Infections
Accession: DOID:9002823
browse the term
Definition: Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method.
Synonyms: exact_synonym: Gram-Positive Bacterial Infection
narrow_synonym: Enterococcus faecalis infection
primary_id: MESH:D016908
xref: EFO:0000780
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ICOS
inducible T cell costimulator
ISO
RGD
PMID:12421962
RGD:1624276
NCBI chr15:107,350,253...107,370,123
Ensembl chr15:107,350,203...107,370,119
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LOC102163838
non-secretory ribonuclease-like
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21696142
NCBI chr 7:78,179,285...78,180,221
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TLR2
toll like receptor 2
ISO
RGD
PMID:18354210
RGD:7240560
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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ANTXR2
ANTXR cell adhesion molecule 2
ISO
RGD
PMID:17054395
RGD:1599126
NCBI chr 8:137,728,849...137,878,336
Ensembl chr 8:137,618,616...137,878,333
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ELANE
elastase, neutrophil expressed
ISO
protein:increased expression:plasma:
RGD
PMID:19049643
RGD:10450550
NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027
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LOC110258578
interleukin-1 beta-like
disease_progression
ISO
mRNA:decreased expression:multiple (mouse)
RGD
PMID:19075243
RGD:40902812
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RNASEL
ribonuclease L
severity
ISO
RGD
PMID:19075243
RGD:40902812
NCBI chr 9:123,895,045...123,910,386
Ensembl chr 9:123,893,294...123,910,398
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TNF
tumor necrosis factor
disease_progression
ISO
protein:decreased expression:multiple (mouse)
RGD
PMID:19075243
RGD:40902812
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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IL23A
interleukin 23 subunit alpha
ISO
RGD
PMID:16923792
RGD:39457937
NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
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IL4
interleukin 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17387165
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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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 chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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IL23A
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:26455347
RGD:11097134
NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
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IL33
interleukin 33
severity treatment
ISO
RGD
PMID:32156806
RGD:40400894
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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IL27
interleukin 27
ISO
associated with diarrhea;protein:increased expression:blood��serum, feces (human)
RGD
PMID:29140433
RGD:126790495
NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
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MARCO
macrophage receptor with collagenous structure
exacerbates
ISO
RGD
PMID:20810988
RGD:41412193
NCBI chr15:24,502,935...24,541,286
Ensembl chr15:24,503,108...24,541,283
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COMT
catechol-O-methyltransferase
severity
ISO
DNA:missense mutation:cds: (rs4680) (human)
RGD
PMID:20184498
RGD:8662334
NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
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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 chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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TLR2
toll like receptor 2
ISO
mRNA:increased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TLR4
toll like receptor 4
ISO
mRNA:decreased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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CD209
CD209 molecule
susceptibility
ISO
DNA:SNPs:promoter: -939G>A,-871A>G (rs735239) (human)
RGD
PMID:24874302
RGD:39938981
NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
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CXCL8
C-X-C motif chemokine ligand 8
ISO
protein:increased expression:serum (human)
RGD
PMID:16001981
RGD:39939055
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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EREG
epiregulin
susceptibility
ISO
DNA:SNP:exon 4: (rs2367707) (human)
RGD
PMID:30634928
RGD:39457687
NCBI chr 8:70,351,316...70,372,530
Ensembl chr 8:70,351,311...70,372,569
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ASIP
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32937126
NCBI chr17:37,542,615...37,718,787
Ensembl chr17:37,545,474...37,718,779
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GSN
gelsolin
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:9142022
RGD:329333022
NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848
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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 chr16:4,063,037...4,097,112
Ensembl chr16:4,063,071...4,093,198
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IRF1
interferon regulatory factor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 117
OMIM ClinVar
NCBI chr 2:134,776,122...134,783,646
Ensembl chr 2:134,776,129...134,783,801
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BCLAF1
BCL2 associated transcription factor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 1:27,872,167...27,902,980
Ensembl chr 1:27,872,183...27,902,974
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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 chr 3:2,145,178...2,266,377
Ensembl chr 3:2,145,178...2,266,355
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IFNGR1
interferon gamma receptor 1
susceptibility
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar OMIM
PMID:8960473 PMID:8960475 PMID:9142806 PMID:9389728 PMID:9497247 PMID:9806040 PMID:10192386 PMID:10811850 PMID:11583830 PMID:12516030 PMID:12712974 PMID:12743658 PMID:15589309 PMID:16195661 PMID:16690980 PMID:18171304 PMID:18593809 PMID:19488747 PMID:19880337 PMID:19880857 PMID:20015550 PMID:21266457 PMID:21448974 PMID:24033266 PMID:24199198 PMID:25216720 PMID:25592983 PMID:25741868 PMID:26060819 PMID:26173802 PMID:26343451 PMID:27356097 PMID:28492532 PMID:28902581 More...
NCBI chr 1:27,037,151...27,061,095
Ensembl chr 1:27,037,165...27,061,093
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IFNGR2
interferon gamma receptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr13:197,007,303...197,035,604
Ensembl chr13:197,007,303...197,035,604
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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 chr 2:59,707,958...59,736,282
Ensembl chr 2:59,707,961...59,736,282
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IL20RA
interleukin 20 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 1:27,137,545...27,172,341
Ensembl chr 1:27,137,558...27,172,720
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IL22RA2
interleukin 22 receptor subunit alpha 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 1:27,073,481...27,090,635
Ensembl chr 1:27,073,610...27,091,236
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MAP3K5
mitogen-activated protein kinase kinase kinase 5
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 1:27,380,143...27,600,500
Ensembl chr 1:27,380,142...27,600,493
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MAP7
microtubule associated protein 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 1:27,606,021...27,782,754
Ensembl chr 1:27,606,036...27,782,747
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MTFR2
mitochondrial fission regulator 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 1:27,906,162...27,998,861
Ensembl chr 1:27,908,824...28,015,101
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PDE7B
phosphodiesterase 7B
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 1:27,958,261...28,425,754
Ensembl chr 1:27,958,270...28,302,666
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PEX7
peroxisomal biogenesis factor 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 1:27,257,872...27,346,529
Ensembl chr 1:27,257,011...27,346,515
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SLC35D3
solute carrier family 35 member D3
ISO
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 1:27,246,742...27,250,476
Ensembl chr 1:27,246,752...27,250,254
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ANKAR
ankyrin and armadillo repeat containing
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr15:94,276,904...94,336,484
Ensembl chr15:94,274,741...94,336,791
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ASNSD1
asparagine synthetase domain containing 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr15:94,261,910...94,272,129
Ensembl chr15:94,266,701...94,272,119
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C15H2orf88
chromosome 15 C2orf88 homolog
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr15:94,628,283...94,794,114
Ensembl chr15:94,478,021...94,791,775
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COL3A1
collagen type III alpha 1 chain
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363
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COL5A2
collagen type V alpha 2 chain
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191
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GLS
glutaminase
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr15:95,513,414...95,606,029
Ensembl chr15:95,513,446...95,598,311
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HIBCH
3-hydroxyisobutyryl-CoA hydrolase
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,792,985...94,941,266
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INPP1
inositol polyphosphate-1-phosphatase
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr15:94,956,535...94,987,286
Ensembl chr15:94,956,532...94,987,279
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MFSD6
major facilitator superfamily domain containing 6
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr15:95,015,281...95,102,228
Ensembl chr15:95,015,325...95,102,219
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MSTN
myostatin
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr15:94,623,526...94,628,440
Ensembl chr15:94,620,270...94,628,545
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NAB1
NGFI-A binding protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr15:95,248,703...95,295,078
Ensembl chr15:95,248,814...95,295,081
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NEMP2
nuclear envelope integral membrane protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr15:95,111,131...95,513,414
Ensembl chr15:95,097,154...95,140,478
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ORMDL1
ORMDL sphingolipid biosynthesis regulator 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr15:94,359,784...94,377,331
Ensembl chr15:94,359,358...94,377,303
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OSGEPL1
O-sialoglycoprotein endopeptidase like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr15:94,328,924...94,359,328
Ensembl chr15:94,331,064...94,351,564
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PMS1
PMS1 homolog 1, mismatch repair system component
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr15:94,351,603...94,476,505
Ensembl chr15:94,351,630...94,476,506
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SLC40A1
solute carrier family 40 member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr15:94,140,635...94,161,793
Ensembl chr15:94,141,988...94,167,408
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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 chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
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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 chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
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WDR75
WD repeat domain 75
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr15:93,981,054...94,026,479
Ensembl chr15:93,981,215...94,026,707
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ABCD1
ATP binding cassette subfamily D member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,485,076...124,501,742
Ensembl chr X:124,485,076...124,501,741
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ARHGAP4
Rho GTPase activating protein 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,641,222...124,655,312
Ensembl chr X:124,641,226...124,655,279
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ATP2B3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,318,874...124,357,653
Ensembl chr X:124,301,713...124,357,653
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ATP6AP1
ATPase H+ transporting accessory protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,952,532...124,960,344
Ensembl chr X:124,952,500...124,960,343
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AVPR2
vasopressin receptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,638,433...124,640,969
Ensembl chr X:124,638,523...124,640,966
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BCAP31
B cell receptor associated protein 31
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,456,999...124,484,923
Ensembl chr X:124,457,001...124,484,743
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BGN
biglycan
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,282,048...124,295,450
Ensembl chr X:124,275,305...124,295,445
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BRCC3
BRCA1/BRCA2-containing complex subunit 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,383,392...125,439,082
Ensembl chr X:125,383,414...125,439,082
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CCNQ
cyclin Q
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,361,003...124,370,072
Ensembl chr X:124,361,006...124,369,867
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CLIC2
chloride intracellular channel 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,546,451...125,560,059
Ensembl chr X:125,546,467...125,570,523
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CMC4
C-X9-C motif containing 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,372,941...125,383,272
Ensembl chr X:125,372,941...125,376,999
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DKC1
dyskerin pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,218,928...125,228,881
Ensembl chr X:125,218,923...125,229,525
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DNASE1L1
deoxyribonuclease 1 like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,931,410...124,937,569
Ensembl chr X:124,931,410...124,939,965
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DUSP9
dual specificity phosphatase 9
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,404,852...124,414,246
Ensembl chr X:124,409,289...124,414,212
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EMD
emerin
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,883,047...124,885,429
Ensembl chr X:124,883,049...124,885,432
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F8
coagulation factor VIII
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,265,330...125,350,853
Ensembl chr X:125,229,450...125,350,853
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F8A1
coagulation factor VIII-associated 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,280,978...125,282,771
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FAM3A
FAM3 metabolism regulating signaling molecule A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,015,985...125,025,119
Ensembl chr X:125,014,714...125,025,104
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FAM50A
family with sequence similarity 50 member A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,967,821...124,973,487
Ensembl chr X:124,967,510...124,973,483
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FLNA
filamin A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,889,934...124,915,000
Ensembl chr X:124,890,162...124,914,992
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FUNDC2
FUN14 domain containing 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,354,032...125,366,029
Ensembl chr X:125,354,021...125,372,610
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G6PD
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,029,147...125,041,040
Ensembl chr X:125,029,150...125,041,040
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GAB3
GRB2 associated binding protein 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,158,148...125,209,080
Ensembl chr X:125,158,154...125,209,035
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GDI1
GDP dissociation inhibitor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,960,835...124,966,833
Ensembl chr X:124,960,990...124,966,832
G
H2AB1
H2A.B variant histone 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,277,575...125,280,752
G
H2AB2
H2A.B variant histone 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,537,401...125,540,026
G
HAUS7
HAUS augmin like complex subunit 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,234,735...124,258,133
Ensembl chr X:124,234,736...124,258,098
G
HCFC1
host cell factor C1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,673,125...124,694,846
Ensembl chr X:124,673,128...124,694,152
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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 chr X:124,528,643...124,537,570
Ensembl chr X:124,528,585...124,537,575
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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 chr X:125,035,575...125,056,445
Ensembl chr X:125,036,508...125,056,453
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IL9R
interleukin 9 receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr 3:41,581,253...41,590,485
Ensembl chr 3:41,583,693...41,594,867
G
IRAK1
interleukin 1 receptor associated kinase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,717,604...124,724,855
Ensembl chr X:124,717,612...124,724,860
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L1CAM
L1 cell adhesion molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,595,649...124,618,292
Ensembl chr X:124,595,651...124,618,307
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LAGE3
L antigen family member 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,001,673...125,003,206
G
LOC102166335
EKC/KEOPS complex subunit LAGE3-like
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,150,593...125,152,014
G
LOC494564
medium-wave-sensitive opsin
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,816,014...124,828,225
G
MECP2
methyl-CpG binding protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,735,523...124,789,063
Ensembl chr X:124,735,656...124,738,659
G
MPP1
MAGUK p55 scaffold protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,230,412...125,252,384
Ensembl chr X:125,229,450...125,350,853
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MTCP1
mature T cell proliferation 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,372,941...125,377,910
Ensembl chr X:125,377,350...125,381,178
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NAA10
N-alpha-acetyltransferase 10, NatA catalytic subunit
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,658,429...124,662,744
Ensembl chr X:124,658,158...124,662,702
G
PDZD4
PDZ domain containing 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,543,845...124,567,477
Ensembl chr X:124,544,944...124,567,369
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PLXNA3
plexin A3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,982,307...124,997,098
Ensembl chr X:124,983,943...124,997,072
G
PLXNB3
plexin B3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,507,953...124,522,780
Ensembl chr X:124,509,526...124,522,767
G
PNCK
pregnancy up-regulated nonubiquitous CaM kinase
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,425,867...124,430,000
Ensembl chr X:124,425,872...124,429,261
G
RAB39B
RAB39B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,520,764...125,528,253
Ensembl chr X:125,520,497...125,527,379
G
RENBP
renin binding protein
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,662,957...124,670,522
Ensembl chr X:124,662,719...124,672,235
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RPL10
ribosomal protein L10
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,927,249...124,929,791
Ensembl chr X:124,926,772...124,929,791
G
SLC10A3
solute carrier family 10 member 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,010,128...125,013,992
Ensembl chr X:125,010,131...125,011,928
G
SLC10A3
solute carrier family 10 member 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,007,121...125,009,657
Ensembl chr X:125,007,122...125,013,980
G
SLC6A8
solute carrier family 6 member 8
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,435,282...124,452,182
Ensembl chr X:124,294,856...124,452,182
G
SMIM9
small integral membrane protein 9
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,254,737...125,262,113
Ensembl chr X:125,255,157...125,259,938
G
SPRY3
sprouty RTK signaling antagonist 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,744,643...125,764,342
Ensembl chr X:125,754,671...125,763,636
G
SRPK3
SRSF protein kinase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,524,102...124,528,607
Ensembl chr X:124,524,083...124,528,945
G
SSR4
signal sequence receptor subunit 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,537,545...124,541,635
Ensembl chr X:124,537,540...124,541,637
G
TAFAZZIN
tafazzin, phospholipid-lysophospholipid transacylase
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,940,036...124,946,275
Ensembl chr X:124,940,031...124,946,273
G
TEX28
testis expressed 28
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,828,222...124,840,093
Ensembl chr X:124,828,225...124,834,315
G
TKTL1
transketolase like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,840,072...124,867,313
Ensembl chr X:124,839,995...124,867,614
G
TMEM187
transmembrane protein 187
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,695,050...124,699,349
G
TMLHE
trimethyllysine hydroxylase, epsilon
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,601,920...125,673,716
Ensembl chr X:125,598,116...125,673,669
G
TREX2
three prime repair exonuclease 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:124,234,736...124,244,193
Ensembl chr X:124,234,738...124,238,598
G
VAMP7
vesicle associated membrane protein 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,863,266...125,917,232
Ensembl chr X:125,863,292...125,917,225
G
VBP1
VHL binding protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:125,485,357...125,506,781
Ensembl chr X:125,480,808...125,506,771
G
GP91-PHOX
NADPH oxidase heavy chain subunit
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 chr X:33,654,656...33,678,346
Ensembl chr X:33,643,648...33,680,580
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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 chr 6:63,579,291...63,593,429
Ensembl chr 6:63,579,304...63,593,435
G
ACTRT2
actin related protein T2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:64,664,484...64,665,774
Ensembl chr 6:64,664,641...64,665,774
G
AGRN
agrin
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,366,017...63,398,311
Ensembl chr 6:63,365,983...63,398,309
G
ANKRD65
ankyrin repeat domain 65
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,678,757...63,686,409
G
ARHGEF16
Rho guanine nucleotide exchange factor 16
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:65,026,490...65,048,545
Ensembl chr 6:65,027,442...65,048,542
G
AURKAIP1
aurora kinase A interacting protein 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,656,120...63,657,568
Ensembl chr 6:63,656,119...63,657,472
G
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 chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112
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 chr 6:63,548,862...63,555,991
Ensembl chr 6:63,548,864...63,553,332
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 chr 6:63,970,359...63,971,973
G
CCDC27
coiled-coil domain containing 27
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:65,242,725...65,254,879
Ensembl chr 6:65,242,602...65,255,727
G
CCNL2
cyclin L2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,659,053...63,668,077
Ensembl chr 6:63,659,054...63,668,047
G
CDK11
cyclin dependent kinase 11
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,804,914...63,819,960
G
CEP104
centrosomal protein 104
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:65,274,092...65,310,735
Ensembl chr 6:65,274,488...65,310,669
G
CFAP74
cilia and flagella associated protein 74
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,976,011...64,038,899
Ensembl chr 6:63,976,346...64,024,562
G
CPTP
ceramide-1-phosphate transfer protein
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,607,991...63,612,325
G
DVL1
dishevelled segment polarity protein 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,628,913
G
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 chr 6:64,160,760...64,169,663
G
FNDC10
fibronectin type III domain containing 10
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,762,059...63,765,483
Ensembl chr 6:63,764,815...63,765,483
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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 chr 6:64,049,665...64,059,644
Ensembl chr 6:64,049,675...64,059,640
G
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 chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,158...63,952,505
G
HES4
hes family bHLH transcription factor 4
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,351,593...63,356,690
Ensembl chr 6:63,351,602...63,356,466
G
HES5
hes family bHLH transcription factor 5
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:64,409,110...64,410,541
Ensembl chr 6:64,408,956...64,410,881
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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 chr 6:63,596,809...63,607,915
Ensembl chr 6:63,596,803...63,607,921
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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 chr 6:63,363,201...63,364,211
Ensembl chr 6:63,363,173...63,364,208
G
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 chr 6:63,320,898...63,328,093
Ensembl chr 6:63,322,184...63,328,259
G
LOC100525876
ATPase family AAA domain-containing protein 3
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,706,155...63,721,574
Ensembl chr 6:63,701,460...63,721,573
G
LOC100624218
MORN repeat-containing protein 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:64,266,184...64,300,980
Ensembl chr 6:64,253,268...64,300,897
G
LRRC47
leucine rich repeat containing 47
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:65,261,990...65,271,745
Ensembl chr 6:65,260,793...65,271,729
G
MEGF6
multiple EGF like domains 6
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:65,055,533...65,141,449
Ensembl chr 6:65,053,389...65,141,380
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 chr 6:63,787,200...63,800,425
Ensembl chr 6:63,787,201...63,800,423
G
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 chr 6:64,436,778...64,470,888
Ensembl chr 6:64,436,642...64,472,759
G
MMP23
matrix metallopeptidase 23
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,801,668...63,804,275
Ensembl chr 6:63,801,965...63,805,046
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MRPL20
mitochondrial ribosomal protein L20
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,670,750...63,675,834
Ensembl chr 6:63,670,755...63,675,839
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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 chr 6:63,630,936...63,635,623
Ensembl chr 6:63,630,938...63,635,456
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NADK
NAD kinase
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,846,650...63,864,137
Ensembl chr 6:63,846,655...63,863,946
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NOC2L
NOC2 like nucleolar associated transcriptional repressor
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,307,703...63,320,799
Ensembl chr 6:63,307,695...63,335,201
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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 chr 6:64,393,092...64,407,443
Ensembl chr 6:64,393,102...64,407,448
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PEX10
peroxisomal biogenesis factor 10
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:64,311,743...64,317,693
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PLCH2
phospholipase C eta 2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:64,325,918...64,392,070
Ensembl chr 6:64,325,952...64,392,068
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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 chr 6:63,328,054...63,336,140
Ensembl chr 6:63,328,605...63,336,138
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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 chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570
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PRKCZ
protein kinase C zeta
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:64,073,343...64,159,187
Ensembl chr 6:64,068,577...64,163,472
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PRXL2B
peroxiredoxin like 2B
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:64,432,187...64,435,328
Ensembl chr 6:64,432,148...64,435,320
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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 chr 6:63,593,539...63,596,921
Ensembl chr 6:63,593,959...63,599,019
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RER1
retention in endoplasmic reticulum sorting receptor 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:64,301,139...64,311,526
Ensembl chr 6:64,301,199...64,311,783
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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 chr 6:63,413,080...63,445,277
Ensembl chr 6:63,413,086...63,414,357
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SAMD11
sterile alpha motif domain containing 11
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,287,449...63,308,231
Ensembl chr 6:63,287,713...63,308,482
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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 chr 6:63,568,171...63,578,623
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SDF4
stromal cell derived factor 4
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,529,853...63,539,979
Ensembl chr 6:63,529,853...63,544,944
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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 chr 6:64,188,265...64,242,596
Ensembl chr 6:64,188,236...64,242,560
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SLC35E2
solute carrier family 35 member E2
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,820,804...63,842,400
Ensembl chr 6:63,820,812...63,835,561
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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 chr 6:65,255,792...65,259,129
Ensembl chr 6:65,255,823...65,259,126
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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 chr 6:63,728,318...63,757,460
Ensembl chr 6:63,728,325...63,755,163
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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 chr 6:63,613,536...63,617,831
Ensembl chr 6:63,607,990...63,617,809
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TMEM240
transmembrane protein 240
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,721,655...63,727,457
Ensembl chr 6:63,721,656...63,727,526
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TMEM52
transmembrane protein 52
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,969,438...63,974,312
Ensembl chr 6:63,969,440...63,974,286
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TMEM88B
transmembrane protein 88B
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,686,542...63,689,298
Ensembl chr 6:63,686,546...63,688,456
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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 chr 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405
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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 chr 6:63,523,850...63,526,672
Ensembl chr 6:63,523,804...63,526,666
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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 chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990
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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 chr 6:65,150,897...65,154,311
Ensembl chr 6:65,150,903...65,154,429
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TTC34
tetratricopeptide repeat domain 34
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:64,478,117...64,499,034
Ensembl chr 6:64,478,408...64,499,986
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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 chr 6:63,494,759...63,513,884
Ensembl chr 6:63,497,597...63,511,918
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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 chr 6:63,556,134...63,568,080
Ensembl chr 6:63,555,488...63,568,017
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VWA1
von Willebrand factor A domain containing 1
ISO
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 6:63,695,195...63,700,296
Ensembl chr 6:63,694,979...63,700,287
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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 chr 6:65,155,201...65,167,091
Ensembl chr 6:65,155,209...65,167,079
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IFNG
interferon gamma
ISO
ClinVar Annotator: match by term: Immunodeficiency 69
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:32163377
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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SPPL2A
signal peptide peptidase like 2A
ISO
ClinVar Annotator: match by term: Immunodeficiency 86
OMIM ClinVar
PMID:23472171 PMID:30127434
NCBI chr 1:121,067,638...121,134,896
Ensembl chr 1:121,067,454...121,134,888
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TBX21
T-box transcription factor 21
ISO
ClinVar Annotator: match by term: Immunodeficiency 88
ClinVar OMIM
PMID:25741868
NCBI chr12:23,996,415...24,009,353
Ensembl chr12:23,996,415...24,009,355
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CXCL10
C-X-C motif chemokine ligand 10
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
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CXCL11
C-X-C motif chemokine ligand 11
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chr 8:71,713,790...71,725,669
Ensembl chr 8:71,713,803...71,725,674
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CXCL9
C-X-C motif chemokine ligand 9
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271
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ABCB1
ATP-binding cassette, sub-family B (MDR/TAP), member 1
ISO
mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human)
RGD
PMID:29602771
RGD:41404732
NCBI chr 9:93,049,955...93,146,469
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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 chr 4:83,904,651...83,943,238
Ensembl chr 4:83,904,915...83,941,563
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KIT
KIT proto-oncogene, receptor tyrosine kinase
ISO
mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human
RGD
PMID:29602771
RGD:41404732
NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734
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C3
complement C3
severity
ISO
protein:decreased expression:serum
RGD
PMID:6342123
RGD:7411735
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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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 chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
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CFB
complement factor B
severity
ISO
RGD
PMID:6342123
RGD:7411735
NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179
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IL27
interleukin 27
ameliorates
ISO
mRNA:decreased expression:skin of body (human)
RGD
PMID:26030183
RGD:126790539
NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
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MBL2
mannose binding lectin 2
susceptibility
ISO
DNA:SNP:cds:161G>A (human)
RGD
PMID:20650301
RGD:8694069
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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BATF3
basic leucine zipper ATF-like transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25642632
NCBI chr 9:130,699,092...130,711,719
Ensembl chr 9:130,699,196...130,712,358
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CCDC122
coiled-coil domain containing 122
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr11:23,159,655...23,199,074
Ensembl chr11:23,159,470...23,198,885
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CCDC88B
coiled-coil domain containing 88B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25642632
NCBI chr 2:7,767,924...7,784,625
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CD8A
CD8 subunit alpha
exacerbates
ISO
mRNA:increased expression:blood (human)
RGD
PMID:31784594
RGD:124715449
NCBI chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,029,760
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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 chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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IL10
interleukin 10
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL17A
interleukin 17A
severity
ISO
mRNA:decreased expression:epidermis (human)
RGD
PMID:22641009
RGD:8698644
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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IL19
interleukin 19
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr 9:67,469,519...67,479,597
Ensembl chr 9:67,469,524...67,479,813
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IL23R
interleukin 23 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019778
NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510
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LACC1
laccase domain containing 1
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr11:23,143,708...23,159,790
Ensembl chr11:23,141,133...23,159,649
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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 chr 5:71,800,337...71,945,828
Ensembl chr 5:71,800,225...71,945,828
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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 chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
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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 chr10:44,107,926...44,226,734
Ensembl chr10:44,107,072...44,226,733
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NOD2
nucleotide binding oligomerization domain containing 2
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
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PARL
presenilin associated rhomboid like
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr13:121,758,734...121,813,679
Ensembl chr13:121,758,738...121,813,638
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PINK1
PTEN induced kinase 1
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 6:78,863,195...78,884,663
Ensembl chr 6:78,863,190...78,884,640
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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 chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872
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RAB32
RAB32, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019778
NCBI chr 1:19,076,301...19,097,647
Ensembl chr 1:19,075,271...19,097,870
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RIPK2
receptor interacting serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 4:47,026,558...47,075,133
Ensembl chr 4:47,027,098...47,074,704
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SLC11A1
solute carrier family 11 member 1
susceptibility
ISO
DNA:polymorphisms, haplotype (human) DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10608779 PMID:15755200 PMID:16597321
RGD:5684957 RGD:5684972
NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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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)
ClinVar RGD OMIM
PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 PMID:25741868 PMID:26729809 More...
RGD:7246917
NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466
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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 chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TLR6
toll like receptor 6
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650
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TNF
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:−308G>A (human)
RGD
PMID:20650301
RGD:8694069
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TNFSF15
TNF superfamily member 15
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 1:255,328,731...255,349,508
Ensembl chr 1:255,328,719...255,349,539
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TNFSF8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25320285
NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
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BTK
Bruton tyrosine kinase
ameliorates
ISO
RGD
PMID:23544144
RGD:124713555
NCBI chr X:82,981,512...83,014,475
Ensembl chr X:82,981,515...83,014,573
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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 chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,029,760
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CEBPB
CCAAT enhancer binding protein beta
severity
ISO
RGD
PMID:17911624
RGD:40903039
NCBI chr17:51,722,633...51,723,673
Ensembl chr17:51,722,426...51,724,305
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CYLD
CYLD lysine 63 deubiquitinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23825949
NCBI chr 6:34,058,091...34,121,939
Ensembl chr 6:34,059,081...34,121,264
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IL15
interleukin 15
ISO
protein:increased expression:epithelial cell, intestine
RGD
PMID:9826341
RGD:1626618
NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
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IL17D
interleukin 17D
severity
ISO
RGD
PMID:31244826
RGD:40903065
NCBI chr11:1,029,219...1,066,086
Ensembl chr11:1,029,109...1,066,085
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IL1RN
interleukin 1 receptor antagonist
susceptibility
ISO
RGD
PMID:8855299
RGD:11522760
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IL23A
interleukin 23 subunit alpha
ISO
RGD
PMID:19923464 PMID:22966045
RGD:39457955 RGD:39457958
NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
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IL33
interleukin 33
treatment
ISO
RGD
PMID:25577440
RGD:40400693
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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MIR21
microRNA mir-21
exacerbates
ISO
RGD
PMID:28589100
RGD:41404664
NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
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MT-2B
metallothionein-2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19576872
NCBI chr 6:18,645,125...18,646,034
Ensembl chr 6:18,645,153...18,646,033
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PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
ISO
RGD
PMID:26311905
RGD:40890274
NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,084,742
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RIPK3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:30975711
RGD:127229912
NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
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STING1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:21098106 PMID:23378430
RGD:39128219 RGD:39128233
NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16751399
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TNFSF8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16177108 PMID:21699557
NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
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IL4R
interleukin 4 receptor
ISO
protein:decreased expression:serum
RGD
PMID:21251883
RGD:5128510
NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
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TNF
tumor necrosis factor
ISO
RGD
PMID:10318940
RGD:10449456
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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SLC11A1
solute carrier family 11 member 1
ISO
DNA:insertion/deletion:3' utr (human)
RGD
PMID:11791966
RGD:5684970
NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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FOXP3
forkhead box P3
ISO
mRNA:increased expression:peripheral blood:
RGD
PMID:25483347
RGD:38456003
NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
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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 chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
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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 chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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IL17A
interleukin 17A
ISO
RGD
PMID:20797909
RGD:4888520
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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TNF
tumor necrosis factor
ISO
associated with HIV Infections
RGD
PMID:7640175
RGD:10450731
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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ACE
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
ISO
associated with pulmonary sarcoidosis;protein:increased expression:blood serum (human)
RGD
PMID:15881283
RGD:40818305
NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
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CD36
CD36 molecule
ISO
RGD
PMID:20950462
RGD:6893545
NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
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DEFB1
defensin, beta 1
ISO
protein:increased expression:plasma, respiratory system fluid/secretion
RGD
PMID:11296379
RGD:4892261
NCBI chr15:38,076,057...38,077,899
Ensembl chr15:38,076,057...38,077,899
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IFNG
interferon gamma
ISO
associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung
RGD
PMID:19060451
RGD:2311490
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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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 chr 1:27,037,151...27,061,095
Ensembl chr 1:27,037,165...27,061,093
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IL22
interleukin 22
ISO
RGD
PMID:19864591
RGD:5147407
NCBI chr 5:32,599,522...32,604,507
Ensembl chr 5:32,599,471...32,604,513
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RIPK3
receptor interacting serine/threonine kinase 3
ameliorates
ISO
RGD
PMID:28401933
RGD:127229921
NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
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SLC11A1
solute carrier family 11 member 1
ISO
DNA:point mutation (mouse)
RGD
PMID:11821237
RGD:5684969
NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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STAT1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11452125
NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
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TNFRSF8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15316035
NCBI chr 6:72,103,309...72,174,882
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TNFSF8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:15316035 PMID:18941223
NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
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CFTR
CF transmembrane conductance regulator
susceptibility
ISO
DNA:mutations: : DNA:SNP:cds:rs113857788(p.Q1352H)(human)
RGD
PMID:18703788 PMID:19858235 PMID:23514810
RGD:36049751 RGD:4140395 RGD:4140430
NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
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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 chr 1:27,037,151...27,061,095
Ensembl chr 1:27,037,165...27,061,093
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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 chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929
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IL18
interleukin 18
ISO
RGD
PMID:21045270
RGD:4889546
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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IL1R1
interleukin 1 receptor type 1
ISO
RGD
PMID:16797208
RGD:5037237
NCBI chr 3:52,192,912...52,334,734
Ensembl chr 3:52,192,915...52,288,485
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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 chr 1:27,137,545...27,172,341
Ensembl chr 1:27,137,558...27,172,720
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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 chr 1:27,073,481...27,090,635
Ensembl chr 1:27,073,610...27,091,236
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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 chr 1:26,800,671...26,801,489
Ensembl chr 1:26,800,671...26,801,489
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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 chr 1:27,257,872...27,346,529
Ensembl chr 1:27,257,011...27,346,515
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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 chr 1:27,246,742...27,250,476
Ensembl chr 1:27,246,752...27,250,254
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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 chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
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TNFAIP3
TNF alpha induced protein 3
ISO
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822
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IL10
interleukin 10
ISO
protein:increased expression:aqueous humor
RGD
PMID:22583692
RGD:7364832
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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C1R
complement C1r
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 5:63,644,097...63,655,149
Ensembl chr 5:63,643,374...63,655,143
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C3
complement C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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F2
coagulation factor II, thrombin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
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GSN
gelsolin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848
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LOC110256000
membrane primary amine oxidase-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr12:19,996,324...20,007,006
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TF
transferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr13:74,930,655...74,970,599
Ensembl chr13:74,930,655...74,972,763
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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 chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245
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ADA2
adenosine deaminase 2
treatment
ISO
RGD
PMID:8656037
RGD:152995258
NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661
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CCL22
C-C motif chemokine ligand 22
ISO
RGD
PMID:20337996
RGD:4891473
NCBI chr 6:19,296,726...19,301,506
Ensembl chr 6:19,296,637...19,302,737
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CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:19159432
RGD:4145106
NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
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CCR5
C-C motif chemokine receptor 5
ISO
protein:increased expression:pleural fluid, natural killer cell (human)
RGD
PMID:19159432
RGD:4145106
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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FOXP3
forkhead box P3
disease_progression
ISO
associated with human immunodeficiency virus infectious disease;
RGD
PMID:21303360
RGD:36947878
NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
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IL1RN
interleukin 1 receptor antagonist
ISO
DNA:repeat (human)
RGD
PMID:10377182
RGD:4143226
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IL27
interleukin 27
exacerbates
ISO
protein:increased expression:alveolar system (human) associated with Pleural Effusion;protein:increased expression:pleural fluid (human)
RGD
PMID:23962500 PMID:25753767 PMID:28844060 PMID:31819557
RGD:126790505 RGD:126790517 RGD:126790523 RGD:126790549
NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
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IL33
interleukin 33
ISO
protein:increased expression:pleural fluid:
RGD
PMID:23301222
RGD:39939042
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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LOC110258578
interleukin-1 beta-like
ISO
DNA:polymorphism: :3953T>C (human)
RGD
PMID:10377182
RGD:4143226
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MMP9
matrix metallopeptidase 9
ISO
protein:increased expression:pleura:
RGD
PMID:18715875
RGD:5129700
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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TLR4
toll like receptor 4
ISO
RGD
PMID:18295348
RGD:4144193
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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TNC
tenascin C
ISO
protein:increased expression:pleura
RGD
PMID:10950882
RGD:4889594
NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376
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CFH
complement factor H
exacerbates
ISO
RGD
PMID:26802141
RGD:108019050
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IL17A
interleukin 17A
susceptibility
ISO
associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human)
RGD
PMID:20437253
RGD:4889139
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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IL27
interleukin 27
ISO
associated with influenza A;protein:increased expression:lung (mouse)
RGD
PMID:24408967
RGD:11556418
NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
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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 chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
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TIRAP
TIR domain containing adaptor protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17322885
NCBI chr 9:53,374,559...53,394,172
Ensembl chr 9:53,375,644...53,394,165
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TLR9
toll like receptor 9
ISO
RGD
PMID:17004992
RGD:5130710
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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ADAM17
ADAM metallopeptidase domain 17
treatment
ISO
RGD
PMID:24491581
RGD:13703038
NCBI chr 3:126,795,513...126,853,995
Ensembl chr 3:126,795,426...126,853,995
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AQP4
aquaporin 4
treatment
ISO
protein:increased expression:brain:
RGD
PMID:15695511
RGD:8698660
NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
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ATM
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:15529270
RGD:126781748
NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552
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CYSLTR1
cysteinyl leukotriene receptor 1
disease_progression
ISO
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chr X:62,380,778...62,407,736
Ensembl chr X:62,380,780...62,456,689
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CYSLTR2
cysteinyl leukotriene receptor 2
ISO
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chr11:18,988,665...19,011,015
Ensembl chr11:18,987,174...19,011,015
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IDO1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:24844751
RGD:39939118
NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
G
IL6
interleukin 6
treatment
ISO
protein:increased expression:brain
RGD
PMID:8943431 PMID:11581077 PMID:25443778
RGD:11060264 RGD:11062107 RGD:9831197
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
G
LGALS3
galectin 3
ISO
mRNA, protein:increased expression:brain
RGD
PMID:17706429
RGD:9685206
NCBI chr 1:184,478,639...184,496,155
Ensembl chr 1:184,478,710...184,497,951
G
LGALS9
galectin 9
ISO
RGD
PMID:17706429
RGD:9685206
NCBI chr12:44,155,079...44,173,634
G
LOC110255221
antibacterial peptide PMAP-37
ISO
protein:increased expression:brain, coronal section (rat)
RGD
PMID:19879657
RGD:2316237
NCBI chr13:31,011,029...31,013,164
G
MARCO
macrophage receptor with collagenous structure
ISO
protein:increased expression:meninges, astrocyte
RGD
PMID:21299846
RGD:41412190
NCBI chr15:24,502,935...24,541,286
Ensembl chr15:24,503,108...24,541,283
G
MMP2
matrix metallopeptidase 2
treatment
ISO
RGD
PMID:24419461
RGD:8657111
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
G
MMP9
matrix metallopeptidase 9
treatment
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:17371820 PMID:24419461
RGD:1642043 RGD:8657111
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
G
NOD2
nucleotide binding oligomerization domain containing 2
ISO
mRNA, protein:increased expression:brain
RGD
PMID:25443778
RGD:9831197
NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
G
NTRK2
neurotrophic receptor tyrosine kinase 2
ISO
mRNA:increased expression:brain
RGD
PMID:21603940
RGD:5684913
NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,405...30,429,882
G
RELA
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:brain, nucleus
RGD
PMID:25443778
RGD:9831197
NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
G
SERPING1
serpin family G member 1
treatment
ISO
RGD
PMID:17538891
RGD:8661645
NCBI chr 2:13,324,160...13,338,826
Ensembl chr 2:13,324,158...13,338,663
G
TLR2
toll like receptor 2
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
G
TLR4
toll like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
G
TLR9
toll like receptor 9
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
G
TNF
tumor necrosis factor
disease_progression
ISO
protein:increased expression:brain mRNA:increased expression:brain (rat)
RGD
PMID:25443778 PMID:31933824
RGD:40903068 RGD:9831197
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
G
AICDA
activation induced cytidine deaminase
ISO
RGD
PMID:26456931
RGD:11098923
NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369
G
ALOX5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:20231413
RGD:4890435
NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,016...90,907,094
G
BTK
Bruton tyrosine kinase
ameliorates
ISO
RGD
PMID:30646846
RGD:124715470
NCBI chr X:82,981,512...83,014,475
Ensembl chr X:82,981,515...83,014,573
G
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 chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
G
C5
complement C5
severity
ISO
RGD
PMID:7814608
RGD:5130159
NCBI chr 1:260,995,662...261,088,868
Ensembl chr 1:260,995,668...261,133,483
G
CCL5
C-C motif chemokine ligand 5
susceptibility
ISO
RGD
PMID:16455992
RGD:4892130
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
G
CD14
CD14 molecule
ISO
RGD
PMID:17185649
RGD:4144788
NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581
G
CHI3L1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:10515841
RGD:4892626
NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131
G
CRHR1
corticotropin releasing hormone receptor 1
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chr12:17,251,361...17,306,308
Ensembl chr12:17,252,020...17,306,285
G
CRHR2
corticotropin releasing hormone receptor 2
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chr18:42,251,755...42,296,457
Ensembl chr18:42,251,749...42,295,467
G
CRP
C-reactive protein, pentraxin-related
disease_progression
ISO
RGD
PMID:21281676
RGD:5131293
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
G
CXCL8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
G
CXCL9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:lung
RGD
PMID:20381636
RGD:5135285
NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271
G
DEFB1
defensin, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr15:38,076,057...38,077,899
Ensembl chr15:38,076,057...38,077,899
G
HMOX1
heme oxygenase 1
ISO
associated with influenza;protein:increased expression:lung
RGD
PMID:17348295
RGD:4145366
G
HP
haptoglobin
ISO
RGD
PMID:19396720
RGD:5147385
NCBI chr 6:14,980,382...14,985,245
G
IL15
interleukin 15
ISO
protein:increased expression:alveolar macrophage, bronchial epithelial cell
RGD
PMID:17611121
RGD:5000755
NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
G
IL15RA
interleukin 15 receptor subunit alpha
ISO
RGD
PMID:17611121
RGD:5000755
NCBI chr10:65,022,227...65,054,385
G
IL17A
interleukin 17A
ISO
RGD
PMID:19995896
RGD:4888531
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
G
IL18
interleukin 18
ISO
RGD
PMID:15770015
RGD:4889960
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
G
IL6
interleukin 6
ISO
RGD
PMID:20643849
RGD:4143255
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
G
LEP
leptin
ISO
RGD
PMID:17822444
RGD:5128869
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
G
LEPR
leptin receptor
ISO
RGD
PMID:21148797
RGD:5128846
NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
G
MAPK1
mitogen-activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
G
MAPK3
mitogen-activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
G
MASP2
MBL associated serine protease 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12904520
NCBI chr 6:71,224,637...71,243,041
Ensembl chr 6:71,224,637...71,243,874
G
MBL2
mannose binding lectin 2
no_association
ISO
DNA:mutations:5' utr, exon:multiple (human) DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:12047967 PMID:18641104
RGD:4889477 RGD:4889478
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
G
NOS2
nitric oxide synthase 2
ISO
RGD
PMID:17056580
RGD:4891950
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
G
PTEN
phosphatase and tensin homolog
ameliorates
ISO
myeloid knockout
RGD
PMID:20505137
RGD:127285597
NCBI chr14:99,929,590...100,021,619
G
SFTPD
surfactant protein D
severity
ISO
RGD
PMID:16255775
RGD:4143519
NCBI chr14:82,051,400...82,069,258
Ensembl chr14:82,051,451...82,067,976
G
SIRT1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,167...71,123,297
G
STING1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29263110
RGD:39128230
NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
G
TLR2
toll like receptor 2
ISO
RGD
PMID:19956717
RGD:4145321
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
G
TNF
tumor necrosis factor
ISO
associated with influenza;protein:increased expression:lung
RGD
PMID:9032201 PMID:17348295
RGD:4143479 RGD:4145366
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
G
TREM1
triggering receptor expressed on myeloid cells 1
ameliorates
ISO
RGD
PMID:19596984 PMID:24752755
RGD:126928121 RGD:127229903
NCBI chr 7:36,510,253...36,531,796
Ensembl chr 7:36,510,253...36,531,796
G
ABCB1
ATP-binding cassette, sub-family B (MDR/TAP), member 1
treatment
ISO
DNA:SNP: :2677G>A (human)
RGD
PMID:26067842
RGD:11098541
NCBI chr 9:93,049,955...93,146,469
G
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 chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245
G
ADA2
adenosine deaminase 2
ISO
protein:increased activity:sputum:
RGD
PMID:19460251
RGD:152995271
NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661
G
ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:plasma
RGD
PMID:22022605
RGD:5686405
NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
G
AKT1
AKT serine/threonine kinase 1
susceptibility
ISO
DNA:SNP,haplotype:intron: IVS3+18 C/C (human)
RGD
PMID:20141546
RGD:38676498
G
ALOX5
arachidonate 5-lipoxygenase
susceptibility
ISO
DNA:polymorphism, repeat:promoter, exon:g.760G>A (human)
RGD
PMID:18174194
RGD:4890411
NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,016...90,907,094
G
AMCF-II
alveolar macrophage-derived chemotactic factor-II
susceptibility
ISO
mRNA:increased expression:lung
RGD
PMID:16790804
RGD:5135246
NCBI chr 8:70,008,225...70,010,360
Ensembl chr 8:70,008,162...70,010,358
G
ASAP1
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25774636
NCBI chr 4:10,103,860...10,451,928
Ensembl chr 4:10,179,758...10,451,929
G
ATF3
activating transcription factor 3
ISO
mRNA,protein:increased expression:lung
RGD
PMID:20856677
RGD:34888225
NCBI chr 9:130,772,259...130,829,678
Ensembl chr 9:130,772,262...130,785,506
G
C3
complement C3
ISO
RGD
PMID:19472039
RGD:5129500
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
G
CCL1
C-C motif chemokine ligand 1
susceptibility
ISO
mRNA:increased expression:lung, dendritic cell DNA:SNP: :multiple (human)
RGD
PMID:18703681 PMID:19057661
RGD:4891408 RGD:4891409
NCBI chr12:40,728,014...40,731,411
Ensembl chr12:40,728,014...40,731,411
G
CCL19
C-C motif chemokine ligand 19
ISO
mRNA:increased expression:lung
RGD
PMID:19933855
RGD:5130906
NCBI chr10:32,110,366...32,112,529
Ensembl chr10:32,110,065...32,112,734
G
CCL2
chemokine (C-C motif) ligand 2
susceptibility
ISO
DNA:polymorphism: :-2518A>G (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16352737 PMID:18940815 PMID:20111728
RGD:4891439
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
G
CCL5
C-C motif chemokine ligand 5
susceptibility
ISO
DNA:snps:5' utr:g.-403G>A rs2280788, g.-28C>G rs2107538 (human) mRNA:increased expression:lung (human)
RGD
PMID:15128813 PMID:19335954
RGD:4891879 RGD:4892112
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
G
CCR2
C-C motif chemokine receptor 2
disease_progression
ISO
RGD
PMID:11438742
RGD:734715
NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
G
CCR5
C-C motif chemokine receptor 5
ISO
protein:decreased expression:blood, T cell (human)
RGD
PMID:16379602
RGD:4892094
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
G
CD14
CD14 molecule
susceptibility
ISO
protein:increased expression:monocyte, serum DNA:polymorphism:promoter:c. -159C>T (human)
RGD
PMID:18008256
RGD:4144205
NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581
G
CD163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood plasma, CD14-positive monocyte (human) protein:increased expression:blood serum (human)
RGD
PMID:27684274 PMID:27685837
RGD:127285801 RGD:127345136
NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
G
CD1D
CD1d molecule
susceptibility
ISO
DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human)
RGD
PMID:30972222
RGD:127345096
NCBI chr 4:92,096,670...92,101,177
Ensembl chr 4:92,094,700...92,101,095
G
CD209
CD209 molecule
susceptibility
ISO
CTD Direct Evidence: marker/mechanism associated with HIV Seropositivity; DNA:SNP:promoter: -336A>G (rs4804803) (human) DNA:SNPs:promoter:-139G>A, -336A>G, -871A>G (rs2287886,rs4804803,rs735239) (human)
CTD RGD
PMID:16379498 PMID:19126442 PMID:24874302
RGD:39938981 RGD:39939062
NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
G
CD274
CD274 molecule
ISO
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793
RGD:40818418
NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
G
CD36
CD36 molecule
susceptibility
ISO
DNA:SNPs: :rs1194182, rs10499859(human)
RGD
PMID:28693442
RGD:41412192
NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
G
CD86
CD86 molecule
ISO
protein:decreased expression:sputum, macrophage (human)
RGD
PMID:17713660
RGD:4892339
NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
G
CRP
C-reactive protein, pentraxin-related
severity
ISO
associated with HIV Infections
RGD
PMID:21197091 PMID:21219690
RGD:5131284 RGD:5131287
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
G
CXCL10
C-X-C motif chemokine ligand 10
treatment
ISO
RGD
PMID:29843631
RGD:27095956
NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
G
CXCL2
chemokine (C-X-C motif) ligand 2
disease_progression
ISO
RGD
PMID:20454613
RGD:5135037
NCBI chr 8:70,157,253...70,159,145
Ensembl chr 8:70,157,214...70,159,138
G
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 chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
G
CYBA
cytochrome b-245 alpha chain
no_association
ISO
DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human)
RGD
PMID:16608528
RGD:4780358
NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420
G
DDIT3
DNA damage inducible transcript 3
ISO
mRNA,protein:increased expression:lung
RGD
PMID:20856677
RGD:34888225
NCBI chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,445...22,789,829
G
EGFR
epidermal growth factor receptor
disease_progression
ISO
associated with lung adenocarcinoma;
RGD
PMID:22173705 PMID:29621876
RGD:38599162 RGD:38599176
NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
G
EREG
epiregulin
susceptibility
ISO
DNA:SNP:exon 4: (rs2367707) (human)
RGD
PMID:30634928
RGD:39457687
NCBI chr 8:70,351,316...70,372,530
Ensembl chr 8:70,351,311...70,372,569
G
FOXP3
forkhead box P3
susceptibility
ISO
DNA:polymorphism:promoter:-924A>G(human)
RGD
PMID:29020928
RGD:38501101
NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
G
GBE1
1,4-alpha-glucan branching enzyme 1
ISO
DNA:SNP:intron:rs2307058 (human)
RGD
PMID:28355295
RGD:18337291
NCBI chr13:173,634,401...173,909,646
Ensembl chr13:173,634,454...173,914,756
G
HAVCR2
hepatitis A virus cellular receptor 2
ISO
RGD
PMID:21382414
RGD:5135524
NCBI chr16:66,138,157...66,160,568
Ensembl chr16:66,139,535...66,160,538
G
IDO1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:32369456
RGD:39939073
NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
G
IL13
interleukin 13
ISO
mRNA:increased expression:Leukocytes, Mononuclear
RGD
PMID:10608794
RGD:4145649
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
G
IL15
interleukin 15
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11742275
RGD:4990461
NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
G
IL18
interleukin 18
ISO
protein:increased expression:serum
RGD
PMID:15955140
RGD:4889836
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
G
IL1A
interleukin 1 alpha
ISO
RGD
PMID:9176116
RGD:4142835
NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
G
IL1RL1
interleukin 1 receptor like 1
ISO
RGD
PMID:28128217
RGD:39938965
NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
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
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 chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
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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 chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
G
IL27RA
interleukin 27 receptor subunit alpha
ISO
RGD
PMID:15749890
RGD:5128486
NCBI chr 2:65,127,278...65,149,665
Ensembl chr 2:65,127,287...65,149,740
G
IL33
interleukin 33
ISO
RGD
PMID:28128217
RGD:39938965
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
G
IL4
interleukin 4
severity
ISO
RGD
PMID:20832364
RGD:5128550
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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IL4R
interleukin 4 receptor
ISO
protein:decreased expression:serum
RGD
PMID:21251883
RGD:5128510
NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
G
IL6
interleukin 6
ISO
RGD
PMID:20624776
RGD:4143257
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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IL6R
interleukin 6 receptor
ISO
protein:decreased expression:T cell
RGD
PMID:20019339
RGD:5128632
NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282
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IRF1
interferon regulatory factor 1
ISO
RGD
PMID:11083808
RGD:5128719
NCBI chr 2:134,776,122...134,783,646
Ensembl chr 2:134,776,129...134,783,801
G
ITIH4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:urine
RGD
PMID:29636444
RGD:40903003
NCBI chr13:34,928,455...34,948,250
Ensembl chr13:34,928,439...34,948,229
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JUN
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
protein:decreased phosphorylation:macrophage, nucleus
RGD
PMID:19737230
RGD:4889999
NCBI chr 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636
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LCN2
lipocalin 2
disease_progression exacerbates
ISO
RGD
PMID:19050270 PMID:30534124
RGD:126779558 RGD:126779565
NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644
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LOC110258578
interleukin-1 beta-like
severity susceptibility
ISO
protein:increased expression:lung DNA:polymorphism: :3953T>C (human) protein:increased expression:bronchioalveolar lavage fluid (human)
RGD
PMID:10543265 PMID:10631206 PMID:16634865
RGD:4143179 RGD:4143180 RGD:5147843
G
LTA
lymphotoxin alpha
susceptibility
ISO
DNA:polymorphism:intron:252G>A (human)
RGD
PMID:20180006
RGD:4143234
NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
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MARCO
macrophage receptor with collagenous structure
susceptibility
ISO
DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human) DNA:SNP: :rs12998782(human) DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human)
RGD
PMID:23617307 PMID:27853145 PMID:28693442
RGD:41412192 RGD:41412194 RGD:41412195
NCBI chr15:24,502,935...24,541,286
Ensembl chr15:24,503,108...24,541,283
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MBL2
mannose binding lectin 2
ISO
DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:19199550
RGD:4889452
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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MIF
macrophage migration inhibitory factor
susceptibility
ISO
DNA:SNP: :rs755622 (human)
RGD
PMID:20439102
RGD:4891004
NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068
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MIR30A
microRNA mir-30a
disease_progression
ISO
RGD
PMID:25866116
RGD:35668864
NCBI chr 1:51,412,827...51,412,933
Ensembl chr 1:51,412,827...51,412,933
G
MMP3
matrix metallopeptidase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000
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MMP7
matrix metallopeptidase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080
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MMP8
matrix metallopeptidase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chr 9:33,384,034...33,397,637
Ensembl chr 9:33,384,033...33,396,947
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MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:16982845
RGD:5130746
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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NFKBIA
NFKB inhibitor alpha
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:9379002
RGD:126908014
NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
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NOD2
nucleotide binding oligomerization domain containing 2
susceptibility
ISO
DNA:SNPs:CDs:p.P268S, R702W, A725G (human)
RGD
PMID:18419343
RGD:5131510
NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
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NOS2
nitric oxide synthase 2
ISO
DNA:SNPs:multiple (human)
RGD
PMID:19575238
RGD:4144122
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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PDCD1
programmed cell death 1
treatment
ISO
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793
RGD:40818418
NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
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PDCD1LG2
programmed cell death 1 ligand 2
ISO
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793
RGD:40818418
NCBI chr 1:216,564,428...216,600,333
Ensembl chr 1:216,553,105...216,657,170
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PLAUR
plasminogen activator, urokinase receptor
severity
ISO
RGD
PMID:18359089
RGD:6483832
NCBI chr 6:50,489,773...50,505,453
Ensembl chr 6:50,489,777...50,505,418
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PTPN22
protein tyrosine phosphatase non-receptor type 22
ISO
DNA:SNPs:cds:788G>A, 1858C>T (human)
RGD
PMID:19563523
RGD:6484723
NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
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SFTPA1
surfactant protein A1
susceptibility
ISO
DNA:SNP:intron:1416C>T (human) DNA:SNPs:exons:307G>A, 776C>T (human)
RGD
PMID:12476938 PMID:16292672
RGD:4144874 RGD:4144875
NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393
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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 chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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TAP1
transporter 1, ATP binding cassette subfamily B member
ISO
associated with HIV Infections;
RGD
PMID:21843574
RGD:6482248
NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,771...25,074,843
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TAP2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:9062973
RGD:5147851
NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,045,685...25,056,300
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TLR1
toll like receptor 1
ISO
mRNA:increased expression:blood
RGD
PMID:16493059
RGD:4889525
NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466
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TLR2
toll like receptor 2
susceptibility
ISO
DNA:polymorphism:intron (human) DNA:SNP: :rs1816702 (human) DNA:polymorphisms: :multiple (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 chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TLR4
toll like receptor 4
severity susceptibility
ISO
protein:increased expression:monocyte DNA:polymorphisms:cds: p. D299F, T399I (human) DNA:SNP:intron: rs5030729 (human)
RGD
PMID:18008256 PMID:19575238 PMID:20403143
RGD:4144106 RGD:4144122 RGD:4144205
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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TLR9
toll like receptor 9
ISO
DNA:snps:multiple (human)
RGD
PMID:19771452
RGD:5130704
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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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 chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TREM1
triggering receptor expressed on myeloid cells 1
disease_progression
ISO
RGD
PMID:29844416
RGD:126925977
NCBI chr 7:36,510,253...36,531,796
Ensembl chr 7:36,510,253...36,531,796
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VDR
vitamin D receptor
susceptibility
ISO
DNA:SNPs:5' UTR (human) DNA:SNPs:promoter, 3' UTR (human) DNA:SNPs (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 chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
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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 chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
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GC
GC vitamin D binding protein
ISO
RGD
PMID:2737695
RGD:5509933
NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262
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ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:14567831
RGD:13702910
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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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 chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713
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BAX
BCL2 associated X, apoptosis regulator
ISO
mRNA:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140
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CD209
CD209 molecule
ISO
protein:increased expression:left cardiac atrium, dendritic cell (human)
RGD
PMID:30261069
RGD:41410815
NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
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CD36
CD36 molecule
ISO
mRNA:decreased expression:blood, mononuclear cell
RGD
PMID:16741676
RGD:6893529
NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
G
COL1A1
collagen type I alpha 1 chain
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
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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 chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363
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GAPDH
glyceraldehyde-3-phosphate dehydrogenase
ISO
RGD
PMID:26823728
RGD:13792679
NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991
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IGF1
insulin like growth factor 1
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
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IL10
interleukin 10
no_association
ISO
RGD
PMID:16043936
RGD:1598626
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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INHBA
inhibin subunit beta A
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr12:53,115,379...53,117,128 NCBI chr18:52,889,684...52,909,260
Ensembl chr18:52,889,684...52,900,967
G
LEF1
lymphoid enhancer binding factor 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 8:113,824,511...113,944,078
Ensembl chr 8:113,825,161...113,944,070
G
MIR155
microRNA mir-155
ISO
RGD
PMID:31894293
RGD:151347417
NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
G
MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:16406300
RGD:1582623
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
G
SNAI1
snail family transcriptional repressor 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr17:51,546,446...51,552,498
Ensembl chr17:51,546,477...51,552,499
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SOCS1
suppressor of cytokine signaling 1
treatment
ISO
RGD
PMID:31894293
RGD:151347417
NCBI chr 3:31,879,143...31,883,041
Ensembl chr 3:31,881,225...31,884,967
G
TWIST1
twist family bHLH transcription factor 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 9:88,286,911...88,290,131
Ensembl chr 9:88,289,407...88,290,015
G
ZEB1
zinc finger E-box binding homeobox 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr10:42,013,114...42,216,139
Ensembl chr10:42,013,084...42,214,205
G
ZEB2
zinc finger E-box binding homeobox 2
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr15:7,498,879...7,631,347
Ensembl chr15:7,499,026...7,632,655
G
GSN
gelsolin
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:25403731
RGD:329333026
NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848
G
ICAM1
intercellular adhesion molecule 1
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
G
SELE
selectin E
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr 4:81,289,061...81,299,657
G
VCAM1
vascular cell adhesion molecule 1
severity
ISO
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222
G
STING1
stimulator of interferon response cGAMP interactor 1
severity
ISO
RGD
PMID:31141689
RGD:39128194
NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
G
ACE
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8186310
NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
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CD163
CD163 molecule
exacerbates
ISO
RGD
PMID:32199911
RGD:127285678
NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
G
CD36
CD36 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15690042
NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
G
CSF3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27737899
NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753
G
CXCL8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23661603
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
G
IL10
interleukin 10
treatment
ISO
RGD
PMID:23993644
RGD:7364979
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
G
IL2
interleukin 2
ISO
RGD
PMID:21603642
RGD:5147906
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
G
IL4
interleukin 4
susceptibility
ISO
DNA:SNP:promoter:-542C>T (human)
RGD
PMID:18422436
RGD:7829791
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
G
IRAK3
interleukin 1 receptor associated kinase 3
treatment
ISO
RGD
PMID:28954388
RGD:34888230
NCBI chr 5:30,524,704...30,601,067
Ensembl chr 5:30,526,793...30,609,921
G
LTF
lactotransferrin
ISO
RGD
PMID:10030017
RGD:7243953
NCBI chr13:29,413,886...29,445,751
Ensembl chr13:29,413,886...29,445,739
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STAT2
signal transducer and activator of transcription 2
ameliorates
ISO
associated with influenza A
RGD
PMID:30337919
RGD:41789626
NCBI chr 5:21,733,030...21,748,960
Ensembl chr 5:21,733,035...21,751,354
G
TLR2
toll like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23661603
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
G
XRN1
5'-3' exoribonuclease 1
susceptibility
ISO
DNA:snp:intron:c.2339+1477G>A (rs7643377) (human)
RGD
PMID:24847357
RGD:11530009
NCBI chr13:83,063,810...83,174,497
Ensembl chr13:83,065,957...83,174,477
G
AKT1
AKT serine/threonine kinase 1
treatment
ISO
RGD
PMID:23613163
RGD:38676477
G
CD86
CD86 molecule
ISO
protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse)
RGD
PMID:20949109
RGD:4892562
NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
G
CFTR
CF transmembrane conductance regulator
ISO
RGD
PMID:28289144
RGD:36049750
NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
G
CSF3
colony stimulating factor 3
treatment
ISO
RGD
PMID:10228098
RGD:11039478
NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753
G
FN1
fibronectin 1
ISO
RGD
PMID:12065530
RGD:7205474
NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014
G
IFNAR1
interferon alpha and beta receptor subunit 1
susceptibility
ISO
RGD
PMID:19603548
RGD:5490273
NCBI chr13:196,925,731...196,951,398
Ensembl chr13:196,925,734...196,952,239
G
IL10
interleukin 10
ISO
mRNA, protein:increased expression:lung
RGD
PMID:22940620
RGD:7364825
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
G
IL15
interleukin 15
ISO
RGD
PMID:18390740
RGD:4996474
NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
G
IL33
interleukin 33
ISO
mRNA:increased expression:lung:
RGD
PMID:28401938
RGD:40400699
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
G
LOC110258578
interleukin-1 beta-like
ISO
RGD
PMID:20065029
RGD:4142828
G
NOD2
nucleotide binding oligomerization domain containing 2
ISO
RGD
PMID:20493961
RGD:5131444
NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
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PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
protein:increased expression:lung (mouse)
RGD
PMID:28663335
RGD:13432209
NCBI chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872
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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 chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003
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RIPK3
receptor interacting serine/threonine kinase 3
treatment
ISO
RGD
PMID:25445964
RGD:127229910
NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
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SFTPB
surfactant protein B
ameliorates
ISO
RGD
PMID:20007532
RGD:151667448
NCBI chr 3:59,101,940...59,113,442
Ensembl chr 3:59,101,981...59,112,396
G
IL17A
interleukin 17A
ISO
RGD
PMID:24614654
RGD:9068425
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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IL18
interleukin 18
treatment
ISO
RGD
PMID:21536791
RGD:8655921
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
G
IL33
interleukin 33
treatment
ISO
mRNA,protein:increased expression:skin
RGD
PMID:23892028
RGD:40400893
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
G
RIPK3
receptor interacting serine/threonine kinase 3
ameliorates
ISO
RGD
PMID:27524612
RGD:127229915
NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
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SERPINF1
serpin family F member 1
severity
ISO
RGD
PMID:25515118
RGD:36174009
NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470
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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 chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
G
IL17A
interleukin 17A
ISO
protein:increased expression:serum (mouse)
RGD
PMID:22384827
RGD:8698662
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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LCN2
lipocalin 2
ISO
mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium
RGD
PMID:16153241
RGD:126781709
NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644
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MX1
MX dynamin like GTPase 1
ISO
associated with pharyngitis;protein:increased expression:blood (human)
RGD
PMID:28077283
RGD:126777682
NCBI chr13:204,843,049...204,868,927
Ensembl chr13:204,843,754...204,868,922
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TLR2
toll like receptor 2
severity
ISO
RGD
PMID:19179417
RGD:7240559
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TNF
tumor necrosis factor
ISO
associated with Otitis Media
RGD
PMID:8302123
RGD:11554174
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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ATM
ATM serine/threonine kinase
exacerbates
ISO
RGD
PMID:27421701
RGD:126779562
NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552
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BTK
Bruton tyrosine kinase
ISO
RGD
PMID:30873567
RGD:124715473
NCBI chr X:82,981,512...83,014,475
Ensembl chr X:82,981,515...83,014,573
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IDO1
indoleamine 2,3-dioxygenase 1
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:20385761
RGD:39938865
NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
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IFNG
interferon gamma
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IL6
interleukin 6
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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IRAK3
interleukin 1 receptor associated kinase 3
severity
ISO
RGD
PMID:22492852
RGD:35316076
NCBI chr 5:30,524,704...30,601,067
Ensembl chr 5:30,526,793...30,609,921
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ITGB2
integrin subunit beta 2
susceptibility
ISO
RGD
PMID:11390487
RGD:127345090
NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107
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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 chr11:78,600,818...78,617,587
Ensembl chr11:78,600,713...78,617,615
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MARCO
macrophage receptor with collagenous structure
exacerbates
ISO
RGD
PMID:15263032
RGD:41412189
NCBI chr15:24,502,935...24,541,286
Ensembl chr15:24,503,108...24,541,283
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NCR1
natural cytotoxicity triggering receptor 1
severity
ISO
RGD
PMID:21887255
RGD:40818252
NCBI chr 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990
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PDCD1
programmed cell death 1
treatment
ISO
RGD
PMID:25624454
RGD:40818422
NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
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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 chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,084,742
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PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
severity
ISO
RGD
PMID:17322108
RGD:38599154
NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
G
RIPK3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:33625952
RGD:127229925
NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
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TNF
tumor necrosis factor
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TAP2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:9062973
RGD:5147851
NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,045,685...25,056,300
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AGER
advanced glycosylation end-product specific receptor
severity
ISO
RGD
PMID:22698798
RGD:6767307
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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BTNL2
butyrophilin like 2
susceptibility no_association
ISO
DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human)
RGD
PMID:17347014 PMID:20176143
RGD:9685035 RGD:9685036
NCBI chr 7:24,789,988...24,809,920
Ensembl chr 7:24,790,614...24,807,432
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CBS
cystathionine beta-synthase
severity
ISO
protein:increased expression:macrophages (mouse)
RGD
PMID:31992699
RGD:40903052
NCBI chr13:206,205,942...206,231,363
Ensembl chr13:206,205,946...206,230,248
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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 chr12:40,728,014...40,731,411
Ensembl chr12:40,728,014...40,731,411
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CCL2
chemokine (C-C motif) ligand 2
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar
PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 PMID:25741868 More...
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CCL4
C-C motif chemokine ligand 4
severity
ISO
associated with human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human)
RGD
PMID:31276515
RGD:41404639
NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082
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CD209
CD209 molecule
susceptibility
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar OMIM
PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868
NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
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CD274
CD274 molecule
ISO
mRNA, protein:increased expression:blood, neutrophil
RGD
PMID:21509782
RGD:41412173
NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
G
CD86
CD86 molecule
ISO
protein:increased expression:lung (mouse)
RGD
PMID:18292558
RGD:4892329
NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
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CD8A
CD8 subunit alpha
susceptibility
ISO
associated with human immunodeficiency virus infectious disease;mRNA:increased expression:whole blood (human) mRNA:decreased expression:blood (human)
RGD
PMID:26725873 PMID:27553407
RGD:124715445 RGD:124715450
NCBI chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,029,760
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CEBPB
CCAAT enhancer binding protein beta
ISO
mRNA:increased expression:lung, spleen (mouse)
RGD
PMID:28558034
RGD:40903038
NCBI chr17:51,722,633...51,723,673
Ensembl chr17:51,722,426...51,724,305
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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 chr 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780
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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 chr13:33,086,280...33,090,540
Ensembl chr13:33,085,286...33,090,858
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CORO1A
coronin 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16040207
NCBI chr 3:18,336,813...18,342,381
Ensembl chr 3:18,336,898...18,342,396
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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 chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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CXCL9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:serum
RGD
PMID:19281538
RGD:5135308
NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271
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CYP2B6B
cytochrome P450 family 2 subfamily B member 6B
treatment
ISO
DNA:SNPs: :c.516G>T (rs3745274) and c.785A>G (rs2279343)(human) associated with human immunodeficiency virus infectious disease; ;DNA:SNP: :516G>T (rs3745274)(human)
RGD
PMID:28389387 PMID:30239753
RGD:41410886 RGD:41412160
NCBI chr 6:49,158,175...49,173,872
Ensembl chr 6:49,110,812...49,178,334
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CYP2C49
cytochrome P450 2C49
treatment
ISO
DNA:polymorphisms:: CYP2C19*17(rs12248560),CYP2C19*2 (c.681C>A; rs4244285)(human)
RGD
PMID:27393733
RGD:124713542
NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455
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EREG
epiregulin
susceptibility
ISO
DNA:SNP:intron: (rs7675690) (human)
RGD
PMID:22170233
RGD:39457686
NCBI chr 8:70,351,316...70,372,530
Ensembl chr 8:70,351,311...70,372,569
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HAS1
hyaluronan synthase 1
ISO
RGD
PMID:19876387
RGD:9588638
NCBI chr 6:58,303,274...58,313,486
Ensembl chr 6:58,302,799...58,313,486
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HP
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr 6:14,980,382...14,985,245
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IFNG
interferon gamma
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against
ClinVar OMIM
PMID:10663562 PMID:11053629 PMID:12788577 PMID:18414898
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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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
ClinVar OMIM
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 chr 1:27,037,151...27,061,095
Ensembl chr 1:27,037,165...27,061,093
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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 chr 2:59,707,958...59,736,282
Ensembl chr 2:59,707,961...59,736,282
G
IL15
interleukin 15
ISO
mRNA:altered expression:lung, spleen
RGD
PMID:16367949
RGD:4987456
NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
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IL22
interleukin 22
ISO
RGD
PMID:21767990
RGD:5147402
NCBI chr 5:32,599,522...32,604,507
Ensembl chr 5:32,599,471...32,604,513
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IL27
interleukin 27
exacerbates
ISO
associated with Pleural Effusion;protein:increased expression:pleural effusion (human) mRNA:increased expression:blood (human)
RGD
PMID:25511588 PMID:26282876
RGD:11086047 RGD:126790514
NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
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IL33
interleukin 33
ISO
associated with Pleural Effusion;protein:increased expression:pleural biopsy
RGD
PMID:25755791
RGD:40400701
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
G
IRAK3
interleukin 1 receptor associated kinase 3
ISO
mRNA, protein:increased expression:sputum (human)
RGD
PMID:19535630
RGD:36049800
NCBI chr 5:30,524,704...30,601,067
Ensembl chr 5:30,526,793...30,609,921
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KLRK1
killer cell lectin like receptor K1
treatment
ISO
RGD
PMID:16619285 PMID:23922903
RGD:39018558 RGD:39128143
NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192
G
MAPKAPK3
MAPK activated protein kinase 3
ISO
ClinVar Annotator: match by term: Tuberculosis, susceptibility to
ClinVar
PMID:20484391
NCBI chr13:33,097,329...33,125,820
Ensembl chr13:33,097,393...33,125,818
G
NFE2L2
NFE2 like bZIP transcription factor 2
treatment
ISO
DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human)
RGD
PMID:31586142
RGD:42722614
NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
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NRG1
neuregulin 1
susceptibility
ISO
DNA:SNP, haplotype: (rs16879814)
RGD
PMID:25919455
RGD:39456091
NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,630,679...52,839,505
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PDCD1
programmed cell death 1
treatment
ISO
RGD
PMID:27865385
RGD:41412174
NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
G
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
RGD
PMID:30514491
RGD:38599199
NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
G
RIPK3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:29892302
RGD:127229926
NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
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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 chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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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 chr15:131,169,911...131,226,543
Ensembl chr15:131,169,917...131,226,544
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SP140
SP140 nuclear body protein
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar
PMID:16803959 PMID:16816019 PMID:17149599 PMID:25741868 PMID:28492532
NCBI chr15:131,225,305...131,292,172
Ensembl chr15:131,226,626...131,292,170
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SPP1
secreted phosphoprotein 1
ISO
RGD
PMID:15863395
RGD:1581371
NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
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STING1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29791904
RGD:39128196
NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
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TIRAP
TIR domain containing adaptor protein
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar OMIM
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868
NCBI chr 9:53,374,559...53,394,172
Ensembl chr 9:53,375,644...53,394,165
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TLR1
toll like receptor 1
susceptibility
ISO
DNA:snps, haplotype:cds:p.N248S, p.S602I (human)
RGD
PMID:18091991
RGD:7246918
NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466
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TLR2
toll like receptor 2
susceptibility
ISO
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
OMIM ClinVar
PMID:14979495 PMID:16081826 PMID:22992740 PMID:25741868 PMID:28492532
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TLR4
toll like receptor 4
ISO
RGD
PMID:12218133
RGD:4144821
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
G
TLR6
toll like receptor 6
susceptibility
ISO
DNA:missense mutations:cds:multiple (human)
RGD
PMID:18091991
RGD:7246918
NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650
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TNF
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:20537163
RGD:4143229
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
DNA:snp:3' utr:g.*215C>T rs3397 (human)
RGD
PMID:20007930
RGD:5131209
NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
G
TNFSF8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30202016
NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
G
VDR
vitamin D receptor
susceptibility
ISO
associated with HIV Infections;DNA:SNPs:3' UTR (human)
RGD
PMID:18712587
RGD:4889839
NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
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CD163
CD163 molecule
ISO
protein:increased expression:duodenum, macrophage (human)
RGD
PMID:19664628
RGD:149735573
NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
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