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: Infectious Skin Diseases
Accession: DOID:9000859
browse the term
Definition: Skin diseases caused by bacteria, fungi, parasites, or viruses.
Synonyms: exact_synonym: Infectious Skin Disease
primary_id: MESH:D012874
alt_id: RDO:0005153
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CCL17
C-C motif chemokine ligand 17
ISO
associated with Cystic Fibrosis
RGD
PMID:17898016
RGD:4145612
NCBI chr 6:19,345,929...19,372,972
Ensembl chr 6:19,345,941...19,348,926
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CCR1
C-C motif chemokine receptor 1
ISO
RGD
PMID:15951834
RGD:5688155
NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960
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CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:10946288
RGD:8661731
NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
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CFTR
CF transmembrane conductance regulator
ISO
DNA:mutations: :
RGD
PMID:11243954
RGD:4140482
NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
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ICAM1
intercellular adhesion molecule 1
ISO
RGD
PMID:7743671
RGD:8547590
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IL1A
interleukin 1 alpha
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
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MBL2
mannose binding lectin 2
susceptibility
ISO
Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human) DNA:SNP:intron:1011G>A(human)
RGD
PMID:11474427 PMID:16487239
RGD:4889577 RGD:8693711
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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TLR9
toll like receptor 9
susceptibility
ISO
DNA:SNP:promoter:g.-1237T>C (rs5743836) (human)
RGD
PMID:18275280 PMID:18936185
RGD:5130858 RGD:5130863
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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TNF
tumor necrosis factor
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TNFRSF1A
TNF receptor superfamily member 1A
susceptibility
ISO
DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human)
RGD
PMID:20646338
RGD:5131174
NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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CCL20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chr15:129,172,743...129,176,069
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CD8A
CD8 subunit alpha
ISO
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,029,760
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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FOXP3
forkhead box P3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
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IL10
interleukin 10
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL12B
interleukin 12B
treatment
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:40400714 RGD:7829774
NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929
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IL2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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IL21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:31414711
RGD:127285371
NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
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IL4
interleukin 4
treatment
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:40400714 RGD:7829774
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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IL6
interleukin 6
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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KLRK1
killer cell lectin like receptor K1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192
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MAPK8
mitogen-activated protein kinase 8
treatment
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874
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MYD88
MYD88 innate immune signal transduction adaptor
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,966,137...22,983,109
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NCR1
natural cytotoxicity triggering receptor 1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
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
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
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PTPN11
protein tyrosine phosphatase non-receptor type 11
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003
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PTPN6
protein tyrosine phosphatase non-receptor type 6
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr 5:63,762,109...63,779,086
Ensembl chr 5:63,762,112...63,808,350
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SERPINF1
serpin family F member 1
disease_progression
ISO
mRNA, protein:decreased expression:skin of body (human)
RGD
PMID:23569025
RGD:27226706
NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470
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TGFB1
transforming growth factor beta 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
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TLR2
toll like receptor 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TLR3
toll like receptor 3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291
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TLR4
toll like receptor 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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TLR7
toll like receptor 7
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:9,573,178...9,576,987
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TLR8
toll like receptor 8
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:9,551,284...9,616,762
Ensembl chr X:9,597,604...9,616,757
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TLR9
toll like receptor 9
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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TNF
tumor necrosis factor
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TNFRSF18
TNF receptor superfamily member 18
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405
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AGER
advanced glycosylation end-product specific receptor
ISO
DNA:SNP:promoter:-374T>A (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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CCL19
C-C motif chemokine ligand 19
ISO
associated with Neutropenia;mRNA:increased expression:lung
RGD
PMID:19783686
RGD:5130908
NCBI chr10:32,110,366...32,112,529
Ensembl chr10:32,110,065...32,112,734
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CCR7
C-C motif chemokine receptor 7
ISO
associated with Neutropenia
RGD
PMID:19783686
RGD:5130908
NCBI chr12:21,857,286...21,869,211
Ensembl chr12:21,857,286...21,872,475
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CD209
CD209 molecule
ISO
RGD
PMID:21381282
RGD:5131183
NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
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CFTR
CF transmembrane conductance regulator
severity
ISO
RGD
PMID:22135344
RGD:35673332
NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
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CLEC1A
C-type lectin domain family 1 member A
susceptibility
ISO
ClinVar Annotator: match by term: Aspergillosis, susceptibility to
OMIM ClinVar
PMID:29489751
NCBI chr 5:61,849,042...61,870,288
Ensembl chr 5:61,849,253...61,868,049
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CLEC7A
C-type lectin domain containing 7A
susceptibility
ISO
ClinVar Annotator: match by term: Aspergillosis, susceptibility to
ClinVar OMIM
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868
NCBI chr 5:61,832,910...61,846,441
Ensembl chr 5:61,832,954...61,846,434
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CRP
C-reactive protein, pentraxin-related
treatment
ISO
RGD
PMID:20879853
RGD:9495929
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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IL15
interleukin 15
ISO
DNA:polymorphism (human)
RGD
PMID:16893395
RGD:4981337
NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
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MBL2
mannose binding lectin 2
susceptibility
ISO
RGD
PMID:20064561
RGD:8694071
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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S100B
S100 calcium binding protein B
ISO
DNA:SNP: :427C>T (human)
RGD
PMID:22114731
RGD:8695981
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TLR1
toll like receptor 1
susceptibility
ISO
DNA:SNPs: :p.R80T, p.N248S (human)
RGD
PMID:16461792
RGD:4889535
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
ISO
mRNA:increased expression:lung
RGD
PMID:19781388
RGD:4145322
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
susceptibility
ISO
DNA:SNP: :p.S249P (human)
RGD
PMID:16461792
RGD:4889535
NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic | ClinVar Annotator: match by term: RELA-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28600438 PMID:29758562 PMID:32969189 PMID:35412596 PMID:36926348 More...
NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
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BIRC3
baculoviral IAP repeat containing 3
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr 9:33,003,570...33,020,252
Ensembl chr 9:33,003,276...33,020,242
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LOC100622859
baculoviral IAP repeat-containing protein 2
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr 9:33,041,592...33,062,865
Ensembl chr 9:33,041,663...33,062,854
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CLEC7A
C-type lectin domain containing 7A
susceptibility
ISO
ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis
ClinVar OMIM
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 5:61,832,910...61,846,441
Ensembl chr 5:61,832,954...61,846,434
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IL17F
interleukin 17F
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 6
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29458167 PMID:30290665 PMID:32047491 PMID:32185379 PMID:34587561 PMID:35753512 PMID:35874679 More...
NCBI chr 7:46,058,371...46,066,039
Ensembl chr 7:46,059,002...46,077,048
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TRAF3IP2
TRAF3 interacting protein 2
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 8
ClinVar OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20953186 PMID:20953188 PMID:22513239 PMID:22581863 PMID:24033266 PMID:24120361 PMID:25741868 PMID:28492532 More...
NCBI chr 1:77,483,997...77,541,557
Ensembl chr 1:77,487,577...77,541,198
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BRK1
BRICK1 subunit of SCAR/WAVE actin nucleating complex
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr13:66,315,438...66,324,641
Ensembl chr13:66,315,315...66,324,641
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CIDEC
cell death inducing DFFA like effector c
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr13:66,141,836...66,149,801
Ensembl chr13:66,141,839...66,149,703
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CRELD1
cysteine rich with EGF like domains 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:66,194,795...66,203,419
Ensembl chr13:66,194,865...66,203,412
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EMC3
ER membrane protein complex subunit 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr13:66,221,844...66,241,963
Ensembl chr13:66,217,970...66,241,935
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FANCD2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433
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FANCD2OS
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,309,630...66,310,166
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IL17RC
interleukin 17 receptor C
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9 | ClinVar Annotator: match by term: IL17RC-related condition
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25918342 PMID:28492532 More...
NCBI chr13:66,179,298...66,194,750
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IL17RE
interleukin 17 receptor E
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr13:66,164,492...66,177,967
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JAGN1
jagunal homolog 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr13:66,154,855...66,158,329
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PRRT3
proline rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr13:66,200,400...66,211,595
Ensembl chr13:66,200,797...66,211,449
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VHL
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
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GJB2
gap junction protein beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16172043
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
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IFNG
interferon gamma
treatment
ISO
RGD
PMID:29481557
RGD:14975102
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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CLEC7A
C-type lectin domain containing 7A
ISO
ClinVar Annotator: match by term: Candidiasis familial chronic mucocutaneous, autosomal recessive
ClinVar
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868
NCBI chr 5:61,832,910...61,846,441
Ensembl chr 5:61,832,954...61,846,434
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IL17RA
interleukin 17 receptor A
ISO
ClinVar Annotator: match by term: Familial Candidiasis, Recessive
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 5:69,461,280...69,480,343
Ensembl chr 5:69,461,290...69,480,112
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MAPK8
mitogen-activated protein kinase 8
ISO
associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human)
RGD
PMID:31784499
RGD:150340677
NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874
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STAT1
signal transducer and activator of transcription 1
ISO
ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis
ClinVar
PMID:21714643 PMID:21727188 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24343863 PMID:25741868 PMID:26255980 PMID:26494717 PMID:26604104 PMID:28161409 PMID:28427548 PMID:28492532 PMID:28815025 More...
NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
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CAT
catalase
ISO
protein:decreased activity:erythrocyte:
RGD
PMID:9892499
RGD:9479188
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
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CCL2
chemokine (C-C motif) ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CCR1
C-C motif chemokine receptor 1
ISO
RGD
PMID:12874303
RGD:5688168
NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960
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CCR2
C-C motif chemokine receptor 2
ISO
mRNA:increased expression:foot, lymph node
RGD
PMID:12874303
RGD:5688168
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
no_association
ISO
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
RGD
PMID:17214851 PMID:23632983
RGD:8549764 RGD:8549765
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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CD163
CD163 molecule
ISO
mRNA, protein:increased expression:skin of body, blood plasma, CD14-positive monocyte (human)
RGD
PMID:32023254
RGD:127345130
NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
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CD274
CD274 molecule
ISO
RGD
PMID:16358363
RGD:41410801
NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
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COL1A1
collagen type I alpha 1 chain
ISO
DNA:SNPs: :rs1061237, rs2586488 (human)
RGD
PMID:25562121
RGD:11041176
NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
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CXCL8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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FOXP3
forkhead box P3
ISO
mRNA:increased expression:Peripheral blood mononuclear cell:
RGD
PMID:29205403
RGD:38455981
NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
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IFNG
interferon gamma
treatment
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:8154019 PMID:9234779 PMID:20102417 PMID:27999013
RGD:40890273
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IL10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:Peripheral blood mononuclear cell:
CTD RGD
PMID:20102417 PMID:29205403
RGD:38455981
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL13
interleukin 13
treatment
ISO
RGD
PMID:12739821 PMID:18924210
RGD:8549536 RGD:8549561
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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IL17A
interleukin 17A
ISO
mRNA:increased expression:Peripheral blood mononuclear cell:
RGD
PMID:29205403
RGD:38455981
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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IL23A
interleukin 23 subunit alpha
ISO
RGD
PMID:29078003
RGD:39457938
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: marker/mechanism
CTD
PMID:20102417
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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KLRK1
killer cell lectin like receptor K1
treatment
ISO
associated with lymphocytic choriomeningitis
RGD
PMID:26290604
RGD:39128165
NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192
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LOC110258578
interleukin-1 beta-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
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LTA
lymphotoxin alpha
no_association
ISO
DNA:SNP:intron:252A>G (human)
RGD
PMID:16950634
RGD:8548800
NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
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LTB
lymphotoxin beta
ISO
RGD
PMID:17911622
RGD:8548820
NCBI chr 7:23,704,842...23,707,036
Ensembl chr 7:23,704,841...23,706,745
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MMP2
matrix metallopeptidase 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21091666
RGD:8657030
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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PDCD1LG2
programmed cell death 1 ligand 2
ISO
RGD
PMID:16358363
RGD:41410801
NCBI chr 1:216,564,428...216,600,333
Ensembl chr 1:216,553,105...216,657,170
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PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
treatment
ISO
RGD
PMID:27999013
RGD:40890273
NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,084,742
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SLC11A1
solute carrier family 11 member 1
ISO
DNA:insertion/deletion (human)
RGD
PMID:20089160
RGD:5684930
NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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SOD1
superoxide dismutase 1
ISO
protein:increased activity:erythrocyte:
RGD
PMID:9892499
RGD:9479188
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
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STAT4
signal transducer and activator of transcription 4
ISO
RGD
PMID:10458767
RGD:8661703
NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
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TLR2
toll like receptor 2
ISO
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
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
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
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
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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TNF
tumor necrosis factor
no_association
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:promoter:-308G>A (rs1800629) (human)
CTD RGD
PMID:16950634 PMID:20102417
RGD:8548800
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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IDO1
indoleamine 2,3-dioxygenase 1
severity
ISO
associated with atopic dermatitis; protein:increased activity:serum (human)
RGD
PMID:26198597
RGD:11528429
NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
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IFNG
interferon gamma
susceptibility
ISO
DNA:haplotype:: mRNA,protein:decreased expression:peripheral mononuclear cell:
RGD
PMID:21458658
RGD:6480259
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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TMC6
transmembrane channel like 6
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36268689 More...
NCBI chr12:3,825,374...3,848,367
Ensembl chr12:3,825,443...3,844,624
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TMC8
transmembrane channel like 8
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 PMID:17368633 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr12:3,802,344...3,837,413
Ensembl chr12:3,817,049...3,837,363
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TNRC6C
trinucleotide repeat containing adaptor 6C
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:28492532
NCBI chr12:3,847,522...3,939,054
Ensembl chr12:3,847,901...3,935,368
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TMC6
transmembrane channel like 6
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 | ClinVar Annotator: match by term: TMC6-related condition
ClinVar OMIM
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36268689 More...
NCBI chr12:3,825,374...3,848,367
Ensembl chr12:3,825,443...3,844,624
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TMC8
transmembrane channel like 8
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1
ClinVar
PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 PMID:28492532 More...
NCBI chr12:3,802,344...3,837,413
Ensembl chr12:3,817,049...3,837,363
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TMC6
transmembrane channel like 6
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr12:3,825,374...3,848,367
Ensembl chr12:3,825,443...3,844,624
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TMC8
transmembrane channel like 8
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis 2 | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar OMIM
PMID:9536098 PMID:10084299 PMID:12426567 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28646613 More...
NCBI chr12:3,802,344...3,837,413
Ensembl chr12:3,817,049...3,837,363
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CIB1
calcium and integrin binding 1
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3
ClinVar OMIM
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28492532 PMID:28646613 PMID:30068544 More...
NCBI chr 7:55,794,834...55,798,666
Ensembl chr 7:55,794,836...55,798,590
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RHOH
ras homolog family member H
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4
OMIM ClinVar
PMID:22850876 PMID:25741868 PMID:28492532
NCBI chr 8:31,321,005...31,372,366
Ensembl chr 8:31,321,059...31,372,364
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IL7
interleukin 7
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5
OMIM ClinVar
PMID:25981006
NCBI chr 4:57,677,895...57,744,713
Ensembl chr 4:57,684,796...57,744,709
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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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NCSTN
nicastrin
ISO
ClinVar Annotator: match by term: Acne inversa, familial, 1 | ClinVar Annotator: match by term: NCSTN-related condition
OMIM ClinVar
PMID:20929727 PMID:21412258 PMID:22358060 PMID:25693063 PMID:25741868 PMID:26463457 PMID:28492532 PMID:32926179 More...
NCBI chr 4:90,121,209...90,142,934
Ensembl chr 4:90,119,002...90,142,890
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PSENEN
presenilin enhancer, gamma-secretase subunit
ISO
ClinVar Annotator: match by term: Acne inversa, familial, 2
OMIM ClinVar
PMID:20929727 PMID:21412258 PMID:25741868 PMID:27900998 PMID:28287404 PMID:28492532 PMID:28601418 More...
NCBI chr 6:45,171,825...45,174,112
Ensembl chr 6:45,171,825...45,174,102
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PSEN1
presenilin 1
ISO
ClinVar Annotator: match by term: Acne inversa, familial, 3
OMIM ClinVar
PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 PMID:8905716 PMID:8962160 PMID:8986743 PMID:9521423 PMID:9804121 PMID:10327206 PMID:11389157 PMID:11524469 PMID:12433263 PMID:12549925 PMID:14769392 PMID:18045903 PMID:19111578 PMID:20049724 PMID:20157243 PMID:20929727 PMID:21559374 PMID:22242180 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22956200 PMID:23638752 PMID:24463146 PMID:24559647 PMID:25285942 PMID:25299611 PMID:25323700 PMID:25741868 PMID:26337232 PMID:26467025 PMID:27264813 PMID:27930341 PMID:28269784 PMID:28492532 PMID:30054184 PMID:31235249 PMID:31914229 PMID:32087291 PMID:32917274 PMID:35949106 More...
NCBI chr 7:96,478,179...96,567,884
Ensembl chr 7:96,478,190...96,569,130
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NCSTN
nicastrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr 4:90,121,209...90,142,934
Ensembl chr 4:90,119,002...90,142,890
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PSEN1
presenilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr 7:96,478,179...96,567,884
Ensembl chr 7:96,478,190...96,569,130
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PSENEN
presenilin enhancer, gamma-secretase subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr 6:45,171,825...45,174,112
Ensembl chr 6:45,171,825...45,174,102
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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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CCL5
C-C motif chemokine ligand 5
ISO
RGD
PMID:12502811
RGD:4890015
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
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IFNAR1
interferon alpha and beta receptor subunit 1
exacerbates
ISO
RGD
PMID:28264883
RGD:125093738
NCBI chr13:196,925,731...196,951,398
Ensembl chr13:196,925,734...196,952,239
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IFNG
interferon gamma
ISO
RGD
PMID:10366565
RGD:8158034
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IL21
interleukin 21
treatment
ISO
RGD
PMID:24358128
RGD:127285365
NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
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IRF9
interferon regulatory factor 9
exacerbates
ISO
RGD
PMID:28264883
RGD:125093738
NCBI chr 7:75,133,800...75,139,641
Ensembl chr 7:75,126,622...75,139,640
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NFE2L2
NFE2 like bZIP transcription factor 2
ameliorates
ISO
RGD
PMID:31555293
RGD:42722615
NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
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RNASEL
ribonuclease L
severity
ISO
RGD
PMID:17157346
RGD:40902623
NCBI chr 9:123,895,045...123,910,386
Ensembl chr 9:123,893,294...123,910,398
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STAT4
signal transducer and activator of transcription 4
treatment severity
ISO
DNA:SNP:intron:rs7572482 (human) DNA:SNPs, haplotype: :multiple
RGD
PMID:22718836
RGD:8661697
NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
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APOE
apolipoprotein E
ISO
RGD
PMID:17101197
RGD:7771596
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
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C3
complement C3
ISO
RGD
PMID:11509581
RGD:7401276
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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CCL2
chemokine (C-C motif) ligand 2
ISO
mRNA:increased expression:cornea (mouse)
RGD
PMID:9544579
RGD:8549472
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CD274
CD274 molecule
ISO
RGD
PMID:29669784
RGD:41412169
NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
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CD40LG
CD40 ligand
ISO
RGD
PMID:11134274
RGD:8547770
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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CD8A
CD8 subunit alpha
ISO
mRNA:increased expression:trigeminal ganglion (mouse)
RGD
PMID:19151393
RGD:124715454
NCBI chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,029,760
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DOCK8
dedicator of cytokinesis 8
severity
ISO
RGD
PMID:25776845
RGD:11055046
NCBI chr 1:221,257,771...221,491,889
Ensembl chr 1:221,256,009...221,491,953
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IGF2BP1
insulin like growth factor 2 mRNA binding protein 1
ISO
RGD
PMID:30050136
RGD:40902865
NCBI chr12:25,196,955...25,244,660
Ensembl chr12:25,197,058...25,243,272
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IL18
interleukin 18
treatment
ISO
RGD
PMID:9971824
RGD:8655923
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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IL21
interleukin 21
treatment
ISO
mRNA:increased expression:spleen (mouse)
RGD
PMID:16406655 PMID:19233474
RGD:127285367 RGD:127285372
NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
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IL33
interleukin 33
ISO
protein:increased expression:skin
RGD
PMID:26872602
RGD:39939003
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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IRF5
interferon regulatory factor 5
susceptibility
ISO
associated with multiple sclerosis;DNA:SNP: :rs3807306 (human)
RGD
PMID:20861862
RGD:40924643
NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,687...19,691,243
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MBL2
mannose binding lectin 2
disease_progression susceptibility
ISO
DNA:polymorphism:cds:
RGD
PMID:15498041 PMID:19480845
RGD:8693725 RGD:8693727
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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NECTIN1
nectin cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10729168
NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,304
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NECTIN2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10729168 PMID:11602758 PMID:30319691
NCBI chr 6:51,317,386...51,358,665
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PCD1B
CD1B antigen
exacerbates
ISO
RGD
PMID:18614643
RGD:127345112
NCBI chr 4:92,035,122...92,040,724
Ensembl chr 4:92,031,712...92,040,742
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RIPK3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:25316792 PMID:30050136
RGD:127229943 RGD:40902865
NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
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RPL30
ribosomal protein L30
ISO
protein:increased serine phosphorylation:ribosome
RGD
PMID:7588575
RGD:11039399
NCBI chr 4:38,702,220...38,720,420
Ensembl chr 4:38,701,720...38,720,780
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APOE
apolipoprotein E
susceptibility
ISO
DNA:polymorphism:exon:
RGD
PMID:11118260
RGD:7771554
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
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AQP4
aquaporin 4
ISO
RGD
PMID:17454447
RGD:8698664
NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
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CALCB
calcitonin-related polypeptide beta
treatment
ISO
RGD
PMID:22761571
RGD:7240516
NCBI chr 2:44,043,135...44,048,651
G
CALCR
calcitonin receptor
treatment
ISO
RGD
PMID:22761571
RGD:7240516
NCBI chr 9:73,279,874...73,403,516
Ensembl chr 9:73,279,879...73,403,436
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CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:22377584
RGD:8661752
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
RGD
PMID:23391218
RGD:8551839
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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CX3CR1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:22377584
RGD:8661752
NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486
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GDNF
glial cell derived neurotrophic factor
ISO
mRNA:increased expression:brain:
RGD
PMID:15950786
RGD:8657070
NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536
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IL1RL1
interleukin 1 receptor like 1
severity
ISO
RGD
PMID:26872602
RGD:39939003
NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
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IRF3
interferon regulatory factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:54,701,733...54,706,079
Ensembl chr 6:54,701,668...54,707,151
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LTA
lymphotoxin alpha
ISO
RGD
PMID:11145686
RGD:8548806
NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
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MMP2
matrix metallopeptidase 2
ISO
protein:increased activity:brain
RGD
PMID:15364410
RGD:8547868
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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MMP9
matrix metallopeptidase 9
treatment
ISO
protein:increased activity:brain
RGD
PMID:15364410 PMID:20483026
RGD:8547867 RGD:8547868
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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STAT4
signal transducer and activator of transcription 4
susceptibility
ISO
RGD
PMID:17266445
RGD:8661706
NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
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TICAM1
TIR domain containing adaptor molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:74,004,566...74,021,100
Ensembl chr 2:74,004,308...74,021,873
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TLR2
toll like receptor 2
disease_progression
ISO
RGD
PMID:14739339 PMID:20806060
RGD:5130178 RGD:8553026
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TLR3
toll like receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291
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TLR4
toll like receptor 4
ISO
RGD
PMID:20806060
RGD:5130178
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
resistance
ISO
mRNA:increased expression:cheek (rat)
RGD
PMID:20806060
RGD:5130178
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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TRAF3
TNF receptor associated factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
G
UNC93B1
unc-93 homolog B1, TLR signaling regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:4,898,414...4,909,833
Ensembl chr 2:4,898,409...4,909,856
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ANKRD37
ankyrin repeat domain 37
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr15:46,445,789...46,450,046
Ensembl chr15:46,445,881...46,450,097
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CCDC110
coiled-coil domain containing 110
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr15:46,494,535...46,503,676
Ensembl chr15:46,491,805...46,546,501
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CFAP96
cilia and flagella associated protein 96
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr15:46,470,680...46,612,173
Ensembl chr15:46,470,765...46,490,006
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CFAP97
cilia and flagella associated protein 97
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr15:46,207,781...46,257,478
Ensembl chr15:46,207,787...46,267,521
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CYP4V2
cytochrome P450 family 4 subfamily V member 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr15:47,038,078...47,068,315
Ensembl chr15:47,046,269...47,068,304
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F11
coagulation factor XI
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr17:9,045,990...9,073,552
Ensembl chr17:9,046,002...9,073,520
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FAM149A
family with sequence similarity 149 member A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr15:46,995,350...47,037,934
Ensembl chr15:46,995,180...47,038,190
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FAT1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715
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KLKB1
kallikrein B1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr15:47,071,581...47,100,272
Ensembl chr15:47,071,556...47,103,622
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LRP2BP
LRP2 binding protein
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr15:46,383,433...46,445,688
Ensembl chr15:46,383,432...46,445,643
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MTNR1A
melatonin receptor 1A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr17:8,597,047...8,618,746
Ensembl chr17:8,596,911...8,617,657
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PDLIM3
PDZ and LIM domain 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr15:46,516,178...46,546,658
Ensembl chr15:46,513,449...46,546,507
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SLC25A4
solute carrier family 25 member 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987
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SNX25
sorting nexin 25
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr15:46,306,967...46,388,404
Ensembl chr15:46,266,762...46,388,324
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SORBS2
sorbin and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr15:46,585,599...46,910,679
Ensembl chr15:46,585,602...46,795,038
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TBK1
TANK binding kinase 1
ISO
ClinVar Annotator: match by term: HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1
ClinVar
PMID:25700176 PMID:25741868 PMID:25803835 PMID:26476236 PMID:26581300 PMID:28492532 More...
NCBI chr 5:28,880,210...28,929,964
Ensembl chr 5:28,880,205...28,929,963
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TLR3
toll like receptor 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis 1 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:9536098 PMID:15042513 PMID:16199547 PMID:17434873 PMID:17576681 PMID:17872438 PMID:19625408 PMID:19763152 PMID:20307669 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:22406018 PMID:24033266 PMID:25118264 PMID:25339207 PMID:25629076 PMID:25741868 PMID:26193622 PMID:26513235 PMID:27872624 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:31268141 PMID:32936395 PMID:33174085 PMID:34813006 More...
NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291
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UFSP2
UFM1 specific peptidase 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr15:46,448,918...46,470,616
Ensembl chr15:46,448,904...46,470,572
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UNC93B1
unc-93 homolog B1, TLR signaling regulator
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis 1 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16973841 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 2:4,898,414...4,909,833
Ensembl chr 2:4,898,409...4,909,856
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AMN
amnion associated transmembrane protein
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
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TRAF3
TNF receptor associated factor 3
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 | ClinVar Annotator: match by term: TRAF3 haploinsufficiency | ClinVar Annotator: match by term: TRAF3-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31681265 PMID:35960817 PMID:36004314 More...
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TICAM1
TIR domain containing adaptor molecule 1
susceptibility
ISO
ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 4
OMIM ClinVar
PMID:22105173 PMID:24033266 PMID:25741868 PMID:26513235 PMID:28492532
NCBI chr 2:74,004,566...74,021,100
Ensembl chr 2:74,004,308...74,021,873
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IRF3
interferon regulatory factor 3
susceptibility
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7
OMIM ClinVar
PMID:25741868 PMID:26216125 PMID:26513235 PMID:28492532
NCBI chr 6:54,701,733...54,706,079
Ensembl chr 6:54,701,668...54,707,151
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APOE
apolipoprotein E
treatment
ISO
RGD
PMID:18515564
RGD:7771550
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
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ATM
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:24370835
RGD:126781690
NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552
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CCL2
chemokine (C-C motif) ligand 2
severity
ISO
associated with Herpes Simplex, Type 1
RGD
PMID:16997857
RGD:8548890
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CCL20
C-C motif chemokine ligand 20
ISO
RGD
PMID:15287366
RGD:7483593
NCBI chr15:129,172,743...129,176,069
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CCR5
C-C motif chemokine receptor 5
ISO
RGD
PMID:16476970 PMID:18798077
RGD:8551819 RGD:8551837
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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CCR6
C-C motif chemokine receptor 6
ISO
RGD
PMID:15287366
RGD:7483593
NCBI chr 1:2,016,600...2,034,172
Ensembl chr 1:2,018,608...2,019,821
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CD274
CD274 molecule
ISO
RGD
PMID:16253242
RGD:41410794
NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
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CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:18798077
RGD:8551819
NCBI chr X:57,592,032...57,595,706
Ensembl chr X:57,592,038...57,595,692
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EIF2AK2
eukaryotic translation initiation factor 2 alpha kinase 2
treatment
ISO
RGD
PMID:15670795
RGD:40902819
NCBI chr 3:103,041,029...103,096,741
Ensembl chr 3:103,041,221...103,096,738
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IFNB1
interferon beta 1
treatment
ISO
RGD
PMID:15670795
RGD:40902819
NCBI chr 1:201,850,935...201,851,495
Ensembl chr 1:201,850,935...201,851,495
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IFNG
interferon gamma
ISO
RGD
PMID:12162877
RGD:8157603
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IL10
interleukin 10
treatment
ISO
RGD
PMID:22467659
RGD:7364834
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL1RN
interleukin 1 receptor antagonist
treatment
ISO
human protein in a mouse model
RGD
PMID:15258192
RGD:8549793
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IL21
interleukin 21
treatment
ISO
RGD
PMID:21204603 PMID:29370719
RGD:127285376 RGD:127285545
NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
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IL23A
interleukin 23 subunit alpha
ISO
mRNA;increased expression:trigeminal ganglion (mouse)
RGD
PMID:12162874
RGD:39457946
NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
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KDR
kinase insert domain receptor
treatment
ISO
protein:increased expression:cornea:
RGD
PMID:16951377
RGD:8549742
NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
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LOC110258578
interleukin-1 beta-like
ISO
mRNA:increased expression:cornea
RGD
PMID:10624423
RGD:7401196
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RNASEL
ribonuclease L
treatment
ISO
RGD
PMID:15670795
RGD:40902819
NCBI chr 9:123,895,045...123,910,386
Ensembl chr 9:123,893,294...123,910,398
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STAT4
signal transducer and activator of transcription 4
susceptibility
ISO
RGD
PMID:17266445
RGD:8661706
NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
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TLR2
toll like receptor 2
ISO
RGD
PMID:17686871
RGD:7794851
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:increased expression:cornea:
RGD
PMID:17667620 PMID:17686871
RGD:7794851 RGD:8552970
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
RGD
PMID:17686871
RGD:7794851
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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TNF
tumor necrosis factor
ISO
mRNA:increased expression:cornea
RGD
PMID:10624423 PMID:12162877
RGD:7401196 RGD:8157603
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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CD163
CD163 molecule
ISO
protein:increased expression:dermis (human)
RGD
PMID:29603182
RGD:127285799
NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
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GJB2
gap junction protein beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16172043
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
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IL17D
interleukin 17D
sexual_dimorphism
ISO
mRNA:increased expression:apocrine gland (human)
RGD
PMID:32031713
RGD:40903066
NCBI chr11:1,029,219...1,066,086
Ensembl chr11:1,029,109...1,066,085
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LCN2
lipocalin 2
disease_progression
ISO
RGD
PMID:28256718
RGD:126781708
NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644
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MEFV
MEFV innate immunity regulator, pyrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 3:38,934,573...38,948,609
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NLRP3
NLR family pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228
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NOD2
nucleotide binding oligomerization domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
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PSTPIP1
proline-serine-threonine phosphatase interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 7:57,100,212...57,145,278
Ensembl chr 7:57,102,757...57,146,751
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TNF
tumor necrosis factor
ISO
DNA:polymorphism,haplotype:promoter:-238G>A(human)
RGD
PMID:23106544
RGD:7777155
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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CARD9
caspase recruitment domain family member 9
susceptibility
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
OMIM ClinVar
PMID:9536098 PMID:9835960 PMID:16199547 PMID:17576681 PMID:19864672 PMID:21983784 PMID:22730530 PMID:23335372 PMID:24033266 PMID:24068945 PMID:24131138 PMID:24231284 PMID:24704721 PMID:25702837 PMID:25731871 PMID:25741868 PMID:25933095 PMID:26038974 PMID:26521038 PMID:26679537 PMID:26961233 PMID:27490946 PMID:27777981 PMID:28252032 PMID:28492532 PMID:28842327 PMID:29080677 PMID:29307770 PMID:29890237 PMID:30136218 PMID:30429846 PMID:30537277 PMID:30809743 PMID:30837984 PMID:31102464 PMID:31414217 PMID:31469433 PMID:32888943 PMID:33414972 PMID:33558980 PMID:33872781 PMID:34234782 PMID:35628702 PMID:35727133 More...
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ENTR1
endosome associated trafficking regulator 1
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
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INPP5E
inositol polyphosphate-5-phosphatase E
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
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PMPCA
peptidase, mitochondrial processing subunit alpha
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
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SNAPC4
small nuclear RNA activating complex polypeptide 4
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
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IL21R
interleukin 21 receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency 31C
ClinVar
PMID:25741868
NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152
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STAT1
signal transducer and activator of transcription 1
ISO
ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | ClinVar Annotator: match by term: Candidiasis, familial, 7 | ClinVar Annotator: match by term: Immunodeficiency 31C
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21714643 PMID:21727188 PMID:22195034 PMID:22730530 PMID:22847544 PMID:23245795 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24188975 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25288569 PMID:25326637 PMID:25367169 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26479788 PMID:26494717 PMID:26513235 PMID:26604104 PMID:26743090 PMID:27114460 PMID:27379765 PMID:27577878 PMID:28011069 PMID:28161409 PMID:28258222 PMID:28427548 PMID:28492532 PMID:28597685 PMID:28622416 PMID:28753426 PMID:28815025 PMID:30317461 PMID:30442829 PMID:31362757 PMID:31448411 PMID:31677808 PMID:32582194 PMID:32888943 PMID:33679782 More...
NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
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ADA2
adenosine deaminase 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661
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ARVCF
ARVCF delta catenin family member
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,058
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ATP6V1E1
ATPase H+ transporting V1 subunit E1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:69,752,644...69,772,038
Ensembl chr 5:69,747,700...69,771,990
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BCL2L13
BCL2 like 13
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:69,779,290...69,846,638
Ensembl chr 5:69,778,950...69,855,272
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BID
BH3 interacting domain death agonist
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:69,849,007...69,874,647
Ensembl chr 5:69,849,002...69,875,853
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C14H22orf39
chromosome 14 C22orf39 homolog
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,106,984...51,112,385
Ensembl chr14:51,106,991...51,112,359
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CDC45
cell division cycle 45
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606
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CECR2
CECR2 histone acetyl-lysine reader
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:69,621,871...69,747,730
Ensembl chr 5:69,621,959...69,740,958
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CLDN5
claudin 5
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,161,490...51,162,382
Ensembl chr14:51,161,042...51,163,482
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COMT
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
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DGCR2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:50,881,260...50,935,603
Ensembl chr14:50,877,872...50,935,564
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ESS2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:50,945,121...50,956,018
Ensembl chr14:50,945,122...50,955,983
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GNB1L
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,306,561...51,343,040
Ensembl chr14:51,305,039...51,343,029
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GP1BB
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
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GSC2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:50,956,315...50,960,424
Ensembl chr14:50,957,991...50,960,193
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HDHD5
haloacid dehalogenase like hydrolase domain containing 5
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:69,499,891...69,512,559
Ensembl chr 5:69,500,285...69,512,611
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HIRA
histone cell cycle regulator
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409
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IL17RA
interleukin 17 receptor A
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 | ClinVar Annotator: match by term: Immunodeficiency 51
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 PMID:24552284 PMID:24552285 PMID:25741868 PMID:26607704 PMID:26871944 PMID:27930337 PMID:28492532 More...
NCBI chr 5:69,461,280...69,480,343
Ensembl chr 5:69,461,290...69,480,112
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LOC110256626
proline dehydrogenase 1, mitochondrial
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,624,919...51,644,467
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MICAL3
microtubule associated monooxygenase, calponin and LIM domain containing 3
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:69,887,884...70,132,969
Ensembl chr 5:69,887,892...70,059,494
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MRPL40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,102,900...51,105,769
Ensembl chr14:51,102,613...51,105,767
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PEX26
peroxisomal biogenesis factor 26
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:70,133,024...70,142,515
Ensembl chr 5:70,133,024...70,142,503
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RTL10
retrotransposon Gag like 10
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,338,134...51,342,383
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SEPTIN5
septin 5
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,252,815...51,260,851
Ensembl chr14:51,252,815...51,261,244
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SLC25A1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...50,978,039
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TANGO2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,443,597...51,464,370
Ensembl chr14:51,443,638...51,464,367
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TBX1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
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TMEM121B
transmembrane protein 121B
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:69,484,204...69,488,489
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TSSK2
testis specific serine kinase 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:50,943,017...50,944,093
Ensembl chr14:50,943,017...50,944,093
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TUBA8
tubulin alpha 8
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:70,154,251...70,174,001
Ensembl chr 5:70,153,922...70,179,970
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TXNRD2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262
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UFD1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072
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USP18
ubiquitin specific peptidase 18
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 5:70,183,321...70,227,990
Ensembl chr 5:70,183,308...70,229,572
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TLR3
toll like receptor 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 83, susceptibility to viral infections
ClinVar OMIM
PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:24033266 PMID:25339207 PMID:25741868 PMID:26193622 PMID:26513235 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:31268141 PMID:32936395 PMID:33174085 PMID:34813006 More...
NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291
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AGER
advanced glycosylation end-product specific receptor
ISO
RGD
PMID:21423669
RGD:5508765
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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CCL2
chemokine (C-C motif) ligand 2
severity
ISO
RGD
PMID:11160230
RGD:11528533
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CCL20
C-C motif chemokine ligand 20
ISO
protein:increased expression:lung
RGD
PMID:20926800
RGD:7483599
NCBI chr15:129,172,743...129,176,069
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CCR6
C-C motif chemokine receptor 6
disease_progression
ISO
RGD
PMID:17379855
RGD:7483617
NCBI chr 1:2,016,600...2,034,172
Ensembl chr 1:2,018,608...2,019,821
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CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:17298426
RGD:5135501
NCBI chr X:57,592,032...57,595,706
Ensembl chr X:57,592,038...57,595,692
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CYP2C49
cytochrome P450 2C49
treatment
ISO
DNA:polymorphisms:cds:
RGD
PMID:26861072
RGD:124713410
NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455
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ELANE
elastase, neutrophil expressed
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027
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GP91-PHOX
NADPH oxidase heavy chain subunit
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chr X:33,654,656...33,678,346
Ensembl chr X:33,643,648...33,680,580
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IL17A
interleukin 17A
severity
ISO
RGD
PMID:21807912
RGD:8698654
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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MBL2
mannose binding lectin 2
ISO
DNA:SNP:exon:rs5030737(human)
RGD
PMID:17311505
RGD:8693758
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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PTX3
pentraxin 3
severity
ISO
DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527 protein:increased expression:bronchoalveolar lavage fluid (human)
RGD
PMID:28487045 PMID:30275011
RGD:38501097 RGD:38508892
NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
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S100B
S100 calcium binding protein B
ISO
RGD
PMID:21423669
RGD:5508765
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TLR2
toll like receptor 2
ISO
RGD
PMID:16113258
RGD:8553022
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
susceptibility
ISO
DNA:polymorphism:exon:p.D299G(human)
RGD
PMID:18275280
RGD:5130863
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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CCL2
chemokine (C-C motif) ligand 2
treatment
ISO
RGD
PMID:12917249
RGD:11528529
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CD209
CD209 molecule
susceptibility
ISO
DNA:SNPs:3'utr,intron:multiple
RGD
PMID:22384201
RGD:39938996
NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
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FGF2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
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IL1A
interleukin 1 alpha
ISO
DNA:polymorphism, haplotype:promoter:-889C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
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ITIH4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:respiratory system fluid/secretion, serum
RGD
PMID:24360996
RGD:40903005
NCBI chr13:34,928,455...34,948,250
Ensembl chr13:34,928,439...34,948,229
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LOC110258578
interleukin-1 beta-like
ISO
DNA:polymorphism, haplotype: :-511C>T (human)
RGD
PMID:18484169
RGD:4142867
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MBL2
mannose binding lectin 2
treatment
ISO
RGD
PMID:17335555
RGD:8693746
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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PTX3
pentraxin 3
susceptibility no_association
ISO
protein:increased expression:bronchoalveolar lavage fluid, plasma (human) DNA:SNP:intron:rs1840680 (human) protein:increased expression:plasma DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527
RGD
PMID:29020397 PMID:29964232
RGD:38501098 RGD:38508894
NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
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VEGFA
vascular endothelial growth factor A
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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AGER
advanced glycosylation end-product specific receptor
ISO
protein:increased expression:brain
RGD
PMID:25014011
RGD:8695986
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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ARG1
arginase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21232540
NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,046...32,028,988
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BTK
Bruton tyrosine kinase
susceptibility
ISO
RGD
PMID:28783468
RGD:124715477
NCBI chr X:82,981,512...83,014,475
Ensembl chr X:82,981,515...83,014,573
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C3
complement C3
ISO
RGD
PMID:15378355
RGD:7401274
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:10899907
RGD:8661227
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
disease_progression
ISO
associated with HIV Infections;protein:increased expression:blood, T cell
RGD
PMID:10553079 PMID:17457607
RGD:8551832 RGD:8551841
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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CRP
C-reactive protein, pentraxin-related
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218153
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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DUSP1
dual specificity phosphatase 1
treatment
ISO
RGD
PMID:21471446
RGD:7771536
NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086
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DUSP6
dual specificity phosphatase 6
treatment
ISO
RGD
PMID:21471446
RGD:7771536
NCBI chr 5:93,303,058...93,307,510
Ensembl chr 5:93,302,975...93,307,504
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IFNG
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:2145107 PMID:16540374 PMID:17218153
RGD:7829781
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IL10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374 PMID:20404924
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL18
interleukin 18
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10768930 PMID:16879623
RGD:8655909
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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IL2
interleukin 2
ISO
RGD
PMID:6224858
RGD:8693326
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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IL21
interleukin 21
exacerbates
ISO
protein:increased expression:popliteal lymph node (mouse)
RGD
PMID:22429963
RGD:127285547
NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
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IL27
interleukin 27
exacerbates
ISO
RGD
PMID:25466588
RGD:126790552
NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
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IL4
interleukin 4
treatment
ISO
protein:increased expression:serum
RGD
PMID:2145107 PMID:2521244
RGD:7829781 RGD:7829820
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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ITGB2
integrin subunit beta 2
ameliorates
ISO
RGD
PMID:14502280
RGD:127285813
NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107
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MCL1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670606
NCBI chr 4:98,562,092...98,567,014
Ensembl chr 4:98,534,812...98,567,006
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SLC6A4
solute carrier family 6 member 4
ISO
lupoid leishmaniasis;protein:increased expression:skin of body (human)
RGD
PMID:23989888
RGD:36947873
NCBI chr12:46,285,995...46,328,377
Ensembl chr12:46,285,997...46,314,378
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TNFRSF18
TNF receptor superfamily member 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20139272
NCBI chr 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405
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TNFSF4
TNF superfamily member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10637281
NCBI chr 9:115,535,185...115,857,457
Ensembl chr 9:115,550,569...115,659,263
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TREM1
triggering receptor expressed on myeloid cells 1
severity
ISO
RGD
PMID:24453980
RGD:126925972
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
ISO
RGD
PMID:17551101
RGD:8158083
NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
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TLR2
toll like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29253318
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TLR2
toll like receptor 2
ISO
protein:increased expression,altered expression:cytoplasm,membrane, nucleus:
RGD
PMID:24617037
RGD:8553046
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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IFNG
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7854095
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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LTA
lymphotoxin alpha
ISO
DNA:polymorphism:intron
RGD
PMID:7595196
RGD:8548799
NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
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TNF
tumor necrosis factor
ISO
DNA:SNP:promoter:-308G>A (human)
RGD
PMID:7595196
RGD:8548799
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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IL1R1
interleukin 1 receptor type 1
ISO
RGD
PMID:19168746
RGD:8662882
NCBI chr 3:52,192,912...52,334,734
Ensembl chr 3:52,192,915...52,288,485
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TLR4
toll like receptor 4
ISO
RGD
PMID:11884755
RGD:7794682
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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IL13
interleukin 13
severity
ISO
protein:increased expression:serum
RGD
PMID:22805723
RGD:8549600
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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CCR5
C-C motif chemokine receptor 5
ISO
RGD
PMID:18292527
RGD:4892087
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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CD28
CD28 molecule
ISO
RGD
PMID:20713624
RGD:5131616
NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,203...107,162,935
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CFB
complement factor B
ISO
RGD
PMID:7921333
RGD:7421526
NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179
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ICAM1
intercellular adhesion molecule 1
ISO
RGD
PMID:17003484
RGD:8547589
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IDO1
indoleamine 2,3-dioxygenase 1
ISO
mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse)
RGD
PMID:27992577
RGD:39939072
NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
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IL18
interleukin 18
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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IL1RL1
interleukin 1 receptor like 1
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
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IL33
interleukin 33
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
G
LOC110258578
interleukin-1 beta-like
treatment
ISO
RGD
PMID:28992214
RGD:39938858
G
MMP2
matrix metallopeptidase 2
ISO
RGD
PMID:19765107
RGD:8657058
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:19765107
RGD:8657058
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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TNF
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:−308G>A(human)
RGD
PMID:17145373
RGD:7401182
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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PTX3
pentraxin 3
ISO
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
RGD
PMID:29964232
RGD:38508894
NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
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CAT
catalase
treatment
ISO
RGD
PMID:17884035
RGD:9479747
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
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CCL20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:21715145
RGD:7483622
NCBI chr15:129,172,743...129,176,069
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CLU
clusterin
ISO
RGD
PMID:11085517
RGD:8746700
NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764
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FGF10
fibroblast growth factor 10
ISO
protein:increased expression:skin (mouse)
RGD
PMID:24582960
RGD:126928134
NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,470...28,777,509
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MIR21
microRNA mir-21
ameliorates
ISO
RGD
PMID:21646541
RGD:41404663
NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
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NRG1
neuregulin 1
ISO
DNA:hypermethylation:
RGD
PMID:31892232
RGD:39456089
NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,630,679...52,839,505
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TLR2
toll like receptor 2
ISO
protein:increased expression,altered expression:cytoplasm,membrane, nucleus:
RGD
PMID:24617037
RGD:8553046
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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IRF1
interferon regulatory factor 1
treatment
ISO
DNA:SNPs,haplotype: :rs839, rs9282763(human)
RGD
PMID:18454680
RGD:42722608
NCBI chr 2:134,776,122...134,783,646
Ensembl chr 2:134,776,129...134,783,801
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MTHFR
methylenetetrahydrofolate reductase
treatment
ISO
DNA:SNP:exon:rs1801133(human)
RGD
PMID:18454680
RGD:42722608
NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
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ADA
adenosine deaminase
ISO
protein:altered activity:serum,lymphocyte
RGD
PMID:22169893
RGD:152995407
NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245
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TLR4
toll like receptor 4
ISO
RGD
PMID:19740386
RGD:7794681
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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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
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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
G
IL18
interleukin 18
treatment
ISO
RGD
PMID:16129701
RGD:8655932
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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IL5
interleukin 5
severity
ISO
RGD
PMID:9824515
RGD:11354934
NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
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IL1A
interleukin 1 alpha
ISO
RGD
PMID:7835923
RGD:7794724
NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
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CCL11
chemokine (C-C motif) ligand 11
ISO
protein:increased expression:plasma, respiratory system fluid/secretion
RGD
PMID:16168564
RGD:7248410
NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893
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IL4
interleukin 4
treatment
ISO
RGD
PMID:26732352
RGD:11534298
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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OLIG2
oligodendrocyte transcription factor 2
ISO
RGD
PMID:25773181
RGD:40902825
NCBI chr13:196,596,838...196,602,197
Ensembl chr13:196,599,822...196,600,793
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AICDA
activation induced cytidine deaminase
ISO
mRNA:altered expression:Bcell,CD4Tcell
RGD
PMID:31001826
RGD:32716386
NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369
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CCL4
C-C motif chemokine ligand 4
ISO
protein:increased expression:serum
RGD
PMID:21991751
RGD:5683905
NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082
G
CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:24818662
RGD:8661728
NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
G
CCR2
C-C motif chemokine receptor 2
ISO
protein:increased expression:blood, T cell
RGD
PMID:15379987
RGD:6893393
NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,376,343
G
CCR5
C-C motif chemokine receptor 5
treatment
ISO
RGD
PMID:24617012
RGD:14401738
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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CD163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:28355218
RGD:127345133
NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
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CD40
CD40 molecule
treatment
ISO
RGD
PMID:14573667
RGD:8547750
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CD40LG
CD40 ligand
ISO
RGD
PMID:14573667
RGD:8547750
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
G
CRP
C-reactive protein, pentraxin-related
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10467834
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
G
CSF2
colony stimulating factor 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:8035028 PMID:17404324
RGD:10449527
NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155
G
CXCL10
C-X-C motif chemokine ligand 10
ISO
mRNA:increased expression:liver
RGD
PMID:16239557
RGD:27095947
NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
G
CXCL8
C-X-C motif chemokine ligand 8
treatment susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:promoter:g.-251A>T (human)
CTD RGD
PMID:22461696 PMID:25821028 PMID:32984951
RGD:150523789 RGD:150523791
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
G
HMOX1
heme oxygenase 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22461696 PMID:23729024
RGD:42724459
G
IFNG
interferon gamma
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:1901333 PMID:3104456 PMID:7854095 PMID:27999013
RGD:40890273 RGD:8158041
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
G
IL10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15716043 PMID:17404324 PMID:22461696 PMID:29745990
RGD:14975172
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL10RA
interleukin 10 receptor subunit alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15716043
NCBI chr 9:45,310,527...45,324,557
Ensembl chr 9:45,310,534...45,325,168
G
IL18
interleukin 18
susceptibility
ISO
RGD
PMID:16879623
RGD:8655922
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
G
IL27
interleukin 27
ISO
mRNA, protein:increased expression:spleen, liver (mouse)
RGD
PMID:27245409
RGD:126790520
NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
G
IL2RB
interleukin 2 receptor subunit beta
susceptibility
ISO
DNA:polymorphisms:exon:8777, 8838(human)
RGD
PMID:17108990
RGD:42724466
NCBI chr 5:10,610,094...10,650,315
Ensembl chr 5:10,628,962...10,650,314
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IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7554475 PMID:17404324 PMID:22461696
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
G
IRF5
interferon regulatory factor 5
ISO
protein:increased expression:CD4 T cell, nucleus
RGD
PMID:30067973 PMID:32038622
RGD:40924560 RGD:40924629
NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,687...19,691,243
G
LOC110258578
interleukin-1 beta-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17404324
G
LTA
lymphotoxin alpha
severity
ISO
DNA:polymorphisms
RGD
PMID:12438370 PMID:15579454
RGD:8548784 RGD:8548789
NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
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LTB
lymphotoxin beta
ISO
RGD
PMID:12115620
RGD:8548822
NCBI chr 7:23,704,842...23,707,036
Ensembl chr 7:23,704,841...23,706,745
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MBL2
mannose binding lectin 2
susceptibility disease_progression
ISO
protein:increased expression:serum: DNA:polymorphism:promoter: DNA:SNPs,haplotype:promoter,exon:
RGD
PMID:17357060 PMID:22995279 PMID:26297290
RGD:11522692 RGD:8693721 RGD:8693726
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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MIR155
microRNA mir-155
ISO
RGD
PMID:31182615
RGD:21081525
NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
G
MIR21
microRNA mir-21
treatment
ISO
RGD
PMID:31608064
RGD:40925951
NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
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NFE2L2
NFE2 like bZIP transcription factor 2
treatment
ISO
RGD
PMID:23729024
RGD:42724459
NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
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PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
treatment
ISO
RGD
PMID:27999013
RGD:40890273
NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,084,742
G
SLC11A1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16597321 PMID:17067929
RGD:5684944
NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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STAT4
signal transducer and activator of transcription 4
ISO
RGD
PMID:24242758
RGD:8661696
NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
G
TLR2
toll like receptor 2
disease_progression
ISO
RGD
PMID:23589575
RGD:15090808
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
G
TNF
tumor necrosis factor
severity
ISO
DNA:polymorphisms CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:1901333 PMID:12438370 PMID:15579454 PMID:22461696
RGD:8548784 RGD:8548789
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
G
CXCR4
C-X-C motif chemokine receptor 4
ISO
ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
OMIM ClinVar
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 PMID:17803866 PMID:18436740 PMID:19043667 PMID:19476565 PMID:19956569 PMID:20472031 PMID:20736454 PMID:21070597 PMID:22748845 PMID:23009155 PMID:23794067 PMID:25571909 PMID:25662009 PMID:25741868 PMID:28353164 PMID:28492532 PMID:29659363 PMID:30819232 PMID:31313072 PMID:31493092 PMID:32784523 PMID:34573280 PMID:35947323 PMID:36089616 More...
NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232
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DARS1
aspartyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr15:15,810,497...15,885,706
Ensembl chr15:15,810,618...15,885,706
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LOC100625897
lactase-phlorizin hydrolase
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr15:16,094,277...16,154,467
G
MCM6
minichromosome maintenance complex component 6
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr15:15,923,638...15,978,587
Ensembl chr15:15,923,681...15,985,405
G
MIR128-1
microRNA mir-128-1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr15:16,273,557...16,273,638
Ensembl chr15:16,273,551...16,273,659
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R3HDM1
R3H domain containing 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr15:16,230,961...16,414,358
Ensembl chr15:16,230,922...16,413,990
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RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr15:16,756,368...16,893,148
Ensembl chr15:16,763,990...16,816,754
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UBXN4
UBX domain protein 4
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr15:16,162,115...16,206,511
Ensembl chr15:16,160,304...16,206,329
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ZRANB3
zinc finger RANBP2-type containing 3
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr15:16,414,291...16,727,659
Ensembl chr15:16,414,757...16,727,841
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