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: Arbovirus Encephalitis
Accession: DOID:9008926
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Definition: Infections of the brain caused by arthropod-borne viruses (i.e., arboviruses) primarily from the families TOGAVIRIDAE; FLAVIVIRIDAE; BUNYAVIRIDAE; REOVIRIDAE; and RHABDOVIRIDAE. Life cycles of these viruses are characterized by ZOONOSES, with birds and lower mammals serving as intermediate hosts. The virus is transmitted to humans by the bite of mosquitoes (CULICIDAE) or TICKS. Clinical manifestations include fever, headache, alterations of mentation, focal neurologic deficits, and COMA. (From Clin Microbiol Rev 1994 Jan;7(1):89-116; Walton, Brain's Diseases of the Nervous System, 10th ed, p321)
Synonyms: exact_synonym: Arbovirus Encephalitides; Arthropod Borne Encephalitis; Arthropod Borne Viral Encephalitis; Arthropod-Borne Encephalitides; Arthropod-Borne Viral Encephalitides; Mosquito Borne Encephalitis; Mosquito-Borne Encephalitides
primary_id: MESH:D004671
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CAMK2N1
calcium/calmodulin dependent protein kinase II inhibitor 1
ISO
RGD
PMID:17010311
RGD:18337278
NCBI chr 6:78,730,204...78,734,232
Ensembl chr 6:78,730,206...78,733,740
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RIPK3
receptor interacting serine/threonine kinase 3
ameliorates
ISO
RGD
PMID:32265853
RGD:127229907
NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
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CD40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CD40LG
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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IFIH1
interferon induced with helicase C domain 1
ISO
mRNA:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083
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LCN2
lipocalin 2
ISO
mRNA,protein:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644
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RIGI
RNA sensor RIG-I
ISO
mRNA:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr10:33,891,720...33,976,151
Ensembl chr10:33,891,763...33,933,455
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RNASEL
ribonuclease L
disease_progression
ISO
RGD
PMID:16809306
RGD:40902815
NCBI chr 9:123,895,045...123,910,386
Ensembl chr 9:123,893,294...123,910,398
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STING1
stimulator of interferon response cGAMP interactor 1
severity
ISO
RGD
PMID:31415679
RGD:39128224
NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
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TLR3
toll like receptor 3
ISO
mRNA:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291
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CCR5
C-C motif chemokine receptor 5
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:28492532 More...
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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IRF5
interferon regulatory factor 5
disease_progression
ISO
RGD
PMID:25031348
RGD:40924561
NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,687...19,691,243
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MAVS
mitochondrial antiviral signaling protein
severity
ISO
RGD
PMID:28094802
RGD:40903045
NCBI chr17:31,850,646...31,869,273
Ensembl chr17:31,850,900...31,869,188
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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 chr 8:30,552,369...30,635,932
Ensembl chr 8:30,552,400...30,635,867
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S100B
S100 calcium binding protein B
ISO
RGD
PMID:19790244
RGD:5508797
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