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: Flavivirus Infections
Accession: DOID:9004146
browse the term
Definition: Infections with viruses of the genus FLAVIVIRUS, family FLAVIVIRIDAE.
Synonyms: exact_synonym: Flavivirus infection; Flavivirus infectious disease
primary_id: MESH:D018177
xref: EFO:1001326
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IFNA2
interferon alpha 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16902856
NCBI chr12:58,468,018...58,469,825
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PRF1
perforin 1
ISO
mRNA:increased expression:brain, spleen
RGD
PMID:21908734
RGD:6482795
NCBI chr 9:60,692,544...60,698,000
Ensembl chr 9:60,692,600...60,698,465
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CD209
CD209 molecule
severity
ISO
DNA:SNP:promoter: -336G>A (human) ClinVar Annotator: match by term: Dengue fever, protection against | ClinVar Annotator: match by term: Dengue virus, susceptibility to
RGD OMIM ClinVar
PMID:15564514 PMID:15838506 PMID:16274635 PMID:16379498 PMID:25741868
RGD:39939064
NCBI chr 6:7,219,576...7,235,755
Ensembl chr 6:7,228,378...7,235,208
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FCGR2A
Fc fragment of IgG receptor IIa
severity
ISO
DNA:polymorphism:cds:p.H131R(human)
RGD
PMID:26240159
RGD:13463456
NCBI chr20:2,480,710...2,512,429
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GC
GC vitamin D binding protein
ISO
protein:increased expression:plasma
RGD
PMID:19845402
RGD:5509870
NCBI chr 7:20,254,604...20,298,384
Ensembl chr 7:20,253,879...20,298,265
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IDO1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:31821895
RGD:39939074
NCBI chr 8:37,930,910...37,950,790
Ensembl chr 8:37,930,562...37,946,505
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IL1RL1
interleukin 1 receptor like 1
treatment
ISO
RGD
PMID:30098206
RGD:39938828
NCBI chr14:5,966,551...6,020,391
Ensembl chr14:6,005,061...6,020,265
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IL33
interleukin 33
severity
ISO
RGD
PMID:30098206
RGD:39938828
NCBI chr12:73,235,585...73,283,665
Ensembl chr12:73,237,406...73,252,436
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LOC103217855
C-X-C chemokine receptor type 2
treatment
ISO
RGD
PMID:30098206
RGD:39938828
NCBI chr10:104,012,906...104,025,599
Ensembl chr10:104,022,811...104,023,893
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LOC103234663
interferon lambda-1
ameliorates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:28238051
RGD:126848771
NCBI chr 6:33,901,382...33,904,356
Ensembl chr 6:33,901,801...33,903,894
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MAPK8
mitogen-activated protein kinase 8
ISO
protein:increased phosphorylation:liver (mouse)
RGD
PMID:28188818
RGD:150340680
NCBI chr 9:43,356,603...43,489,066
Ensembl chr 9:43,356,308...43,393,425
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STAT2
signal transducer and activator of transcription 2
susceptibility
ISO
RGD
PMID:21075352 PMID:21379341
RGD:41789625 RGD:41789629
NCBI chr11:52,297,890...52,316,089
Ensembl chr11:52,297,543...52,316,105
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CD1D
CD1d molecule
disease_progression
ISO
protein:increased expression:cd14-positive monocyte (human)
RGD
PMID:24945350
RGD:127345113
NCBI chr20:5,726,307...5,733,355
Ensembl chr20:5,727,049...5,730,061
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CD209
CD209 molecule
severity susceptibility
ISO
DNA:SNPs:introns, promoter:multiple (human) DNA:SNP:promoter: -336 A>G (rs4804803) (human)
RGD
PMID:15838506 PMID:21245921
RGD:39938993 RGD:41410809
NCBI chr 6:7,219,576...7,235,755
Ensembl chr 6:7,228,378...7,235,208
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CLEC5A
C-type lectin domain containing 5A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18496526
NCBI chr21:110,629,443...110,650,350
Ensembl chr21:110,632,181...110,649,204
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FCGR2A
Fc fragment of IgG receptor IIa
susceptibility
ISO
DNA:polymorphism:cds:p.H131R(human)
RGD
PMID:22817980
RGD:11040906
NCBI chr20:2,480,710...2,512,429
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IL21
interleukin 21
severity
ISO
protein:increased expression:blood serum (human)
RGD
PMID:24858204
RGD:127285368
NCBI chr 7:69,859,793...69,872,237
Ensembl chr 7:69,863,535...69,872,025
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LOC103234663
interferon lambda-1
ameliorates
ISO
DNA:SNP:enhancer:-1043C>T (rs7247086) (human)
RGD
PMID:31981768
RGD:126848742
NCBI chr 6:33,901,382...33,904,356
Ensembl chr 6:33,901,801...33,903,894
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MICB
MHC class I polypeptide-related sequence B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22001756
NCBI chr17:40,518,365...40,532,637
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OSBP
oxysterol binding protein
ISO
mRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:28241052
RGD:41404654
NCBI chr 1:14,009,735...14,053,232
Ensembl chr 1:14,010,020...14,051,605
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PLCE1
phospholipase C epsilon 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22001756
NCBI chr 9:87,214,166...87,559,010
Ensembl chr 9:87,214,355...87,555,733
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SLC6A4
solute carrier family 6 member 4
severity
ISO
DNA;polymorphism:5'utr: (rs25531) (human)
RGD
PMID:30452889
RGD:38676265
NCBI chr16:23,929,196...23,969,665
Ensembl chr16:23,927,311...23,955,616
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TAP2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:18071882
RGD:6482261
NCBI chr17:39,266,870...39,277,658
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CAMK2N1
calcium/calmodulin dependent protein kinase II inhibitor 1
ISO
RGD
PMID:17010311
RGD:18337278
NCBI chr20:112,064,718...112,068,505
Ensembl chr20:112,065,581...112,067,256
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RIPK3
receptor interacting serine/threonine kinase 3
ameliorates
ISO
RGD
PMID:32265853
RGD:127229907
NCBI chr24:1,318,265...1,322,610
Ensembl chr24:1,318,216...1,322,462
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CD40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566
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CD40LG
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr X:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639
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IFIH1
interferon induced with helicase C domain 1
ISO
mRNA:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr10:47,676,799...47,732,310
Ensembl chr10:47,676,920...47,732,264
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LCN2
lipocalin 2
ISO
mRNA,protein:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr12:9,976,278...9,981,087
Ensembl chr12:9,976,614...9,980,870
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RIGI
RNA sensor RIG-I
ISO
mRNA:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr12:47,729,040...47,800,995
Ensembl chr12:47,729,076...47,799,570
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RNASEL
ribonuclease L
disease_progression
ISO
RGD
PMID:16809306
RGD:40902815
NCBI chr25:46,779,221...46,795,854
Ensembl chr25:46,779,700...46,795,842
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STING1
stimulator of interferon response cGAMP interactor 1
severity
ISO
RGD
PMID:31415679
RGD:39128224
NCBI chr23:42,153,576...42,160,903
Ensembl chr23:42,153,026...42,160,907
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TLR3
toll like receptor 3
ISO
mRNA:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr 7:131,991,068...132,014,366
Ensembl chr 7:131,991,029...132,016,232
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CCR5
C-C motif chemokine receptor 5
susceptibility
ISO
ClinVar Annotator: match by term: West Nile virus, susceptibility to
ClinVar OMIM
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 PMID:9140404 PMID:9207783 PMID:9466996 PMID:9511755 PMID:9585595 PMID:9600249 PMID:9768627 PMID:10520641 PMID:10615909 PMID:10803840 PMID:11081537 PMID:11403804 PMID:11403814 PMID:11517319 PMID:11781692 PMID:12874407 PMID:15744032 PMID:15863470 PMID:16216086 PMID:16248677 PMID:16418398 PMID:19017985 PMID:19073967 PMID:25741868 PMID:28492532 More...
NCBI chr22:7,803,794...7,818,112
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IRF5
interferon regulatory factor 5
disease_progression
ISO
RGD
PMID:25031348
RGD:40924561
NCBI chr21:97,536,803...97,549,576
Ensembl chr21:97,537,790...97,549,945
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MAVS
mitochondrial antiviral signaling protein
severity
ISO
RGD
PMID:28094802
RGD:40903045
NCBI chr 2:34,534,433...34,555,406
Ensembl chr 2:34,541,229...34,552,823
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RFC1
replication factor C subunit 1
susceptibility
ISO
DNA:silent mutation:CDS:p.P847P (rs2066786) (human)
RGD
PMID:21881118
RGD:41410434
NCBI chr27:10,936,445...11,013,457
Ensembl chr27:10,936,461...11,006,679
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S100B
S100 calcium binding protein B
ISO
RGD
PMID:19790244
RGD:5508797
NCBI chr 2:90,188,820...90,194,986
Ensembl chr 2:90,188,639...90,195,023
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STAT2
signal transducer and activator of transcription 2
susceptibility
ISO
RGD
PMID:31043530
RGD:41789622
NCBI chr11:52,297,890...52,316,089
Ensembl chr11:52,297,543...52,316,105
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ATF4
activating transcription factor 4
ISO
mRNA:increased expression:brain
RGD
PMID:30241539
RGD:32733625
NCBI chr19:22,092,046...22,094,184
Ensembl chr19:22,091,667...22,095,230
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ATG16L1
autophagy related 16 like 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28694387
NCBI chr10:119,286,609...119,331,226
Ensembl chr10:119,286,751...119,333,267
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DDIT3
DNA damage inducible transcript 3
ISO
mRNA:increased expression:brain
RGD
PMID:30241539
RGD:32733625
NCBI chr11:53,424,693...53,429,094
Ensembl chr11:53,424,868...53,425,576
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EDEM1
ER degradation enhancing alpha-mannosidase like protein 1
ISO
mRNA:increased expression:brain
RGD
PMID:30241539
RGD:32733625
NCBI chr22:41,253,861...41,286,185
Ensembl chr22:41,253,989...41,282,140
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ERN1
endoplasmic reticulum to nucleus signaling 1
ISO
RGD
PMID:30241539
RGD:32733625
NCBI chr16:57,145,080...57,233,757
Ensembl chr16:57,145,191...57,236,230
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HSPA5
heat shock protein family A (Hsp70) member 5
ISO
mRNA,protein:increased expression:brain
RGD
PMID:30241539
RGD:32733625
NCBI chr12:12,920,705...12,925,888
Ensembl chr12:12,920,710...12,927,431
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PPP1R15A
protein phosphatase 1 regulatory subunit 15A
ISO
mRNA:increased expression:brain
RGD
PMID:30241539
RGD:32733625
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STAT2
signal transducer and activator of transcription 2
susceptibility
ISO
human gene in a mouse model
RGD
PMID:28278235 PMID:29746837
RGD:41789627 RGD:41789631
NCBI chr11:52,297,890...52,316,089
Ensembl chr11:52,297,543...52,316,105
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XBP1
X-box binding protein 1
ISO
protein:increased expression:cerebellum, mesocephalon
RGD
PMID:30241539
RGD:32733625
NCBI chr19:11,670,605...11,677,168
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