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: Viral Skin Diseases
Accession: DOID:9001063
browse the term
Definition: Skin diseases caused by viruses.
Synonyms: exact_synonym: Viral Skin Disease
primary_id: MESH:D017193 ; RDO:0005546
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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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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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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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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
protein:increased expression:vaginal secretion:
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
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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
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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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TLR3
toll like receptor 3
susceptibility
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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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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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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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
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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
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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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all