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: Slow Virus Diseases
Accession: DOID:9004448
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Definition: Diseases of viral origin, characterized by incubation periods of months to years, insidious onset of clinical manifestations, and protracted clinical course. Though the disease process is protracted, viral multiplication may not be unusually slow. Conventional viruses produce slow virus diseases such as SUBACUTE SCLEROSING PANENCEPHALITIS, progressive multifocal leukoencephalopathy (LEUKOENCEPHALOPATHY, PROGRESSIVE MULTIFOCAL), and AIDS. PRION DISEASES were originally considered part of this group.
Synonyms: exact_synonym: Slow Virus Disease
primary_id: MESH:D012897 ; RDO:0004715
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Abcb1a
ATP binding cassette subfamily B member 1A
treatment
ISO
DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human) DNA:SNP: : rs10276036(human)
RGD
PMID:23372834 PMID:24517233
RGD:39456119 , RGD:11098698
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Arhgap44
Rho GTPase activating protein 44
disease_progression
ISO
DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human) DNA:SNP:intron: (rs2072255) (human)
RGD
PMID:28069446 PMID:21107268
RGD:401901288 , RGD:401901289
NCBI chr10:49,655,583...49,822,876
Ensembl chr10:49,655,584...49,824,297
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Bst2
bone marrow stromal cell antigen 2
ISO
DNA:SNPs: :
RGD
PMID:26885809
RGD:14398494
NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979
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Ccl4
C-C motif chemokine ligand 4
ISO
DNA:SNP:3' utr:rs1719153 (human)
RGD
PMID:16773571
RGD:5683896
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Ccr5
C-C motif chemokine receptor 5
ISO
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to
ClinVar
PMID:9742978 PMID:12610055 PMID:12815099
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd209d
CD209d molecule
disease_progression
ISO
associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human)
RGD
PMID:17530998
RGD:39939010
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cd4
Cd4 molecule
ISO
associated with drug dependence; protein:increased expression:temporal lobe (human)
RGD
PMID:16873198
RGD:407420271
NCBI chr 4:157,668,878...157,695,366
Ensembl chr 4:157,668,878...157,695,191
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Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:9499800
RGD:11344976
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd68
Cd68 molecule
ISO
associated with drug dependence; protein:increased expression:temporal lobe (human)
RGD
PMID:16873198
RGD:407420271
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Cd8a
CD8 subunit alpha
ISO
associated with drug dependence; protein:increased expression:temporal lobe (human)
RGD
PMID:16873198
RGD:407420271
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
susceptibility
ISO
DNA:polymorphism:exon:p.K751Q(human)
RGD
PMID:20127180
RGD:5688740
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
associated with pulmonary tuberculosis;protein:increased expression:blood (human)
RGD
PMID:32369456
RGD:39939073
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Ifna1
interferon, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9612607
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to
CTD ClinVar
PMID:9612607 PMID:12854077
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Igf2
insulin-like growth factor 2
ISO
protein:decreased expression:plasma
RGD
PMID:11232005
RGD:5509969
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Il2
interleukin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9861562
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Kir3dl1
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
severity
ISO
DNA:missense mutation:cds: p.I47V (rs643347) (human)
RGD
PMID:29461980
RGD:38676267
NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD
PMID:27382604
RGD:40818276
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Ncr3
natural cytotoxicity triggering receptor 3
ISO
protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD
PMID:27382604
RGD:40818276
NCBI chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799
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RT1-CE15
RT1 class I, locus CE15
susceptibility
ISO
DNA:polymorphism: :HLA-A31
RGD
PMID:19030725
RGD:36049809
NCBI chr20:3,275,575...3,279,074
Ensembl chr20:3,264,172...3,279,563 Ensembl chr20:3,264,172...3,279,563
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RT1-CE16
RT1 class I, locus CE16
susceptibility
ISO
DNA:polymorphism: :HLA-A31
RGD
PMID:19030725
RGD:36049809
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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Tnf
tumor necrosis factor
ISO
RGD
PMID:8548330
RGD:12904035
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:8548330
RGD:12904035
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
RGD
PMID:8548330
RGD:12904035
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Vdr
vitamin D receptor
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Adrb2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Epo
erythropoietin
treatment
ISO
RGD
PMID:20818790
RGD:10395393
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Gc
GC, vitamin D binding protein
ISO
associated with HIV Infections;protein:increased expression:cerebrospinal fluid:
RGD
PMID:17929958
RGD:5509882
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Il1b
interleukin 1 beta
IEP
protein:increased expression:neocortex
RGD
PMID:17678975
RGD:1626641
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Insr
insulin receptor
severity
ISO
protein:increased expression:cerebrospinal fluid, plasma
RGD
PMID:22629383
RGD:10403033
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Irs1
insulin receptor substrate 1
severity
ISO
protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte
RGD
PMID:22629383
RGD:10403033
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
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Nefl
neurofilament light chain
ISO
associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human) protein:increased expression:CSF (human)
RGD
PMID:30105502 PMID:27400930
RGD:127284876 , RGD:127284885
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Npy
neuropeptide Y
severity
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:8815163
RGD:10431910
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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Oprm1
opioid receptor, mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
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Pdgfb
platelet derived growth factor subunit B
ISO
RGD
PMID:21368226
RGD:6482787
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Slc6a4
solute carrier family 6 member 4
ISO
RGD
PMID:25404050
RGD:38676266
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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Agtr1a
angiotensin II receptor, type 1a
ISO
RGD
PMID:2
RGD:1303381
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Agtr2
angiotensin II receptor, type 2
ISO
RGD
PMID:2
RGD:1303381
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Egf
epidermal growth factor
ISO
RGD
PMID:19357719
RGD:6906909
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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Hp
haptoglobin
ISO
protein:increased expression:urine
RGD
PMID:19279121
RGD:11041816
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Mtor
mechanistic target of rapamycin kinase
ISO
RGD
PMID:23678040 PMID:23678040
RGD:7245474 , RGD:7245474
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Myh9
myosin, heavy chain 9
ISO
protein:decreased expression:glomerulus
RGD
PMID:22313957
RGD:6903274
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Notch4
notch receptor 4
IEP
protein: increased expression: kidney
RGD
PMID:20706108
RGD:6480788
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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Nphs1
NPHS1 adhesion molecule, nephrin
treatment
ISO
RGD
PMID:19188342 PMID:17229913
RGD:38596324 , RGD:38599164
NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
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Klrk1
killer cell lectin like receptor K1
treatment
ISO
RGD
PMID:23018378
RGD:39018554
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10861090
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Cd4
Cd4 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9546790
NCBI chr 4:157,668,878...157,695,366
Ensembl chr 4:157,668,878...157,695,191
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9379333
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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Trem2
triggering receptor expressed on myeloid cells 2
ISO
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
ClinVar
PMID:12080485 PMID:12754369 PMID:12883936 PMID:12925681 PMID:15883308 PMID:18546367 PMID:21834902 PMID:23150934 PMID:23318515 PMID:23399524 PMID:23582655 PMID:23870839 PMID:24899047 PMID:24990881 PMID:25615530 PMID:25741868 PMID:27995897 PMID:28492532 PMID:28559417 PMID:28768830 PMID:29142083 PMID:29557178 PMID:30042649 PMID:30242731 PMID:33969597 More...
NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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Tyrobp
transmembrane immune signaling adaptor Tyrobp
ISO ISS
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:10888890 PMID:11109371 PMID:12370476 PMID:15883308 PMID:17125796 PMID:17430113 PMID:20500450 PMID:22082900 PMID:25741868 PMID:27658901 PMID:28492532 PMID:28620717 PMID:31996268 PMID:36133075 More...
NCBI chr 1:85,672,931...85,676,856
Ensembl chr 1:85,672,994...85,676,848
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Nefl
neurofilament light chain
ISO
associated with relapsing-remitting multiple sclerosis;protein:increased expression:serum (human)
RGD
PMID:33903203 PMID:30761586
RGD:127284888 , RGD:127285025
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Ace
angiotensin I converting enzyme
ISO
DNA:insertion/deletion:
RGD
PMID:16741935
RGD:40400901
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ifnl1
interferon, lambda 1
ISO
protein:increased expression:blood serum (human)
RGD
PMID:30077763
RGD:126848745
NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
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