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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:vascular dementia
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Accession:DOID:8725 term browser browse the term
Definition:An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)
Synonyms:exact_synonym: Arteriosclerotic Dementia;   Arteriosclerotic Dementias;   Binswanger Disease;   Binswanger Encephalopathy;   Binswanger's Disease;   Binswanger's Encephalopathy;   Binswangers Disease;   Chronic Progressive Subcortical Encephalopathy;   Encephalopathy, Binswangers;   Multi Infarct Dementia;   Subcortical Arteriosclerotic Encephalopathies;   Subcortical Arteriosclerotic Encephalopathy;   Subcortical Leukoencephalopathies;   Subcortical Leukoencephalopathy;   Subcortical Vascular Dementia;   Subcortical Vascular Dementias;   acute onset vascular dementia;   multifocal dementia;   vascular dementias
 primary_id: MESH:D015140
 alt_id: RDO:0006843
 xref: ICD10CM:F01;   ICD9CM:290.4;   NCI:C34522;   NCI:C34525
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
vascular dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5F1A ATP synthase F1 subunit alpha ISO RGD PMID:24448401 RGD:14696801 NCBI chr 1:95,738,789...95,750,835
Ensembl chr 1:95,625,800...95,750,875
JBrowse link
G AVP arginine vasopressin ISO protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr17:32,581,234...32,583,145
Ensembl chr17:32,581,230...32,583,427
JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO RGD PMID:24622829 RGD:10059369 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,623,268...32,679,164
JBrowse link
G CDK5 cyclin dependent kinase 5 treatment ISO RGD PMID:27118553 RGD:13792766 NCBI chr18:6,166,914...6,171,157 JBrowse link
G EIF4E eukaryotic translation initiation factor 4E ISO protein:decreased expression:hippocampus RGD PMID:23053837 RGD:10401142 NCBI chr 8:121,409,633...121,464,467
Ensembl chr 8:121,409,731...121,466,899
JBrowse link
G EPO erythropoietin ISO RGD PMID:17037738 RGD:10400891 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 treatment ISO RGD PMID:22500404 RGD:10402076 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 treatment ISO RGD PMID:22500404 RGD:10402076 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,620,700...5,795,264
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit susceptibility ISO associated with stroke;DNA:polymorphism:promoter:-588C>T(human) RGD PMID:17548779 RGD:10402374 NCBI chr 4:123,371,198...123,390,130
Ensembl chr 4:123,371,193...123,390,135
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:24968700 RGD:11352822 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,914,932...31,917,335
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO associated with Alzheimer's disease RGD PMID:25261450 RGD:13792687
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO RGD PMID:25261450 RGD:13792687 NCBI chr 3:32,749,329...33,149,350
Ensembl chr 3:32,752,351...33,143,499
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B severity ISO RGD PMID:25261450 RGD:13792687 NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,526...58,927,583
JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO RGD PMID:27118553 RGD:13792766 NCBI chr13:140,136,109...140,370,197
Ensembl chr13:140,136,158...140,369,574
JBrowse link
G IGF1 insulin like growth factor 1 severity ISO mRNA,protein:decreased expression:hippocampus: RGD PMID:16181175, PMID:22342912 RGD:10045864, RGD:1598446 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:16983186 RGD:10045873 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,925...137,690,666
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO protein:increased expression:plasma RGD PMID:16600299 RGD:1626633
G MAPT microtubule associated protein tau treatment ISO RGD PMID:27118553 RGD:13792766 NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,368
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:16385583 RGD:1582624 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO protein:decreased expression:hippocampus RGD PMID:23053837 RGD:10401142 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
G PON2 paraoxonase 2 ISO DNA:missense mutation:cds:p.C311S (human) RGD PMID:11803456 RGD:1580219 NCBI chr 9:75,027,270...75,051,441
Ensembl chr 9:75,027,097...75,051,422
JBrowse link
G RPGRIP1L RPGRIP1 like susceptibility ISO DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human) RGD PMID:22425971 RGD:13204815 NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,194
JBrowse link
G RPS6 ribosomal protein S6 treatment ISO RGD PMID:25767501 RGD:11041644 NCBI chr 1:203,444,360...203,447,643
Ensembl chr 1:203,444,450...203,451,468
JBrowse link
G SDHAF1 succinate dehydrogenase complex assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19465911 NCBI chr 6:45,374,714...45,376,346 JBrowse link
G SNCA synuclein alpha ISO protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 NCBI chr 8:129,247,724...129,388,307
Ensembl chr 8:129,248,819...129,388,307
JBrowse link
G SNCG synuclein gamma ISO protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 NCBI chr14:87,916,353...87,922,111
Ensembl chr14:87,904,773...87,922,112
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO DNA:SNPs, haplotype: :24489C>T, 34995G>T, 68891C>T (human) RGD PMID:16082694 RGD:1581412 NCBI chr 5:6,719,484...6,784,724
Ensembl chr 5:6,719,487...6,784,672
JBrowse link
G SST somatostatin ISO protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr13:125,337,560...125,338,742
Ensembl chr13:125,337,417...125,338,850
JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-850C>T(human) RGD PMID:11273064 RGD:13825254 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TP53 tumor protein p53 ISO protein:increased expression:brain RGD PMID:18083315 RGD:2290557 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
CADASIL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTRA1 HtrA serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,043,006...132,103,595
JBrowse link
G NOTCH3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CTD
ClinVar
PMID:9388399, PMID:10854111, PMID:11102981, PMID:11755616, PMID:12721871, PMID:15229130, PMID:15364702, PMID:16009764, PMID:16730748, PMID:20935329, PMID:25741868, PMID:26467025, PMID:26856460, PMID:28479817, PMID:29188607, PMID:29980472, PMID:30311386, PMID:30402942 NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
JBrowse link
CADASIL 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH3 notch receptor 3 ISO OMIM NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
JBrowse link
CADASIL 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTRA1 HtrA serine peptidase 1 ISO OMIM NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,043,006...132,103,595
JBrowse link
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTRA1 HtrA serine peptidase 1 ISO OMIM NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,043,006...132,103,595
JBrowse link
Familial Vascular Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Familial vascular leukoencephalopathy ClinVar PMID:9388399, PMID:10854111, PMID:11102981, PMID:11755616, PMID:12721871, PMID:15229130, PMID:15364702, PMID:16009764, PMID:16730748, PMID:20935329, PMID:26467025, PMID:26856460, PMID:28479817, PMID:29188607, PMID:29980472, PMID:30311386, PMID:30402942 NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
JBrowse link
Multi-Infarct Dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APP amyloid beta precursor protein ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:1677459 RGD:10054257 NCBI chr13:189,434,854...189,716,120
Ensembl chr13:189,434,869...189,716,057
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:18938189 RGD:10054050 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,187,260...54,228,144
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:18938189 RGD:10054050 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:21279683 RGD:10449132 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G IL2 interleukin 2 severity ISO protein:increased secretion:mononuclear cell: RGD PMID:8586980 RGD:10047081 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12618
    Diseases of the Aged 998
      dementia 629
        vascular dementia 37
          CADASIL + 2
          Multi-Infarct Dementia 5
Path 2
Term Annotations click to browse term
  disease 12618
    disease of anatomical entity 12151
      nervous system disease 9917
        central nervous system disease 8392
          brain disease 7764
            disease of mental health 5683
              cognitive disorder 1710
                dementia 629
                  vascular dementia 37
                    CADASIL + 2
                    Multi-Infarct Dementia 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.