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
Accession: DOID:8725
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 .
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App
amyloid beta precursor protein
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:22312439 PMID:25104557 PMID:25174650 PMID:25604855 PMID:26242991 PMID:26467025 PMID:27312774 PMID:28492532
NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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Atp5f1a
ATP synthase F1 subunit alpha
ISO
RGD
PMID:24448401
RGD:14696801
NCBI chr18:74,156,553...74,164,490
Ensembl chr18:74,156,553...74,164,495
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Avp
arginine vasopressin
IEP
protein:decreased expression:brain
RGD
PMID:18925713
RGD:2303174
NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
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Bdnf
brain-derived neurotrophic factor
treatment
IEP
RGD
PMID:24622829
RGD:10059369
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
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C1r
complement C1r
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:25741868
NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:25741868
NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
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Ccm2
CCM2 scaffold protein
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
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Cdk5
cyclin-dependent kinase 5
treatment
IEP
RGD
PMID:27118553
RGD:13792766
NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
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Col4a1
collagen type IV alpha 1 chain
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
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Col4a2
collagen type IV alpha 2 chain
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
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Eif4e
eukaryotic translation initiation factor 4E
IEP
protein:decreased expression:hippocampus
RGD
PMID:23053837
RGD:10401142
NCBI chr 2:243,819,616...243,853,987
Ensembl chr 2:243,820,661...243,852,631
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Epo
erythropoietin
IEP
RGD
PMID:17037738
RGD:10400891
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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Fgfr1
Fibroblast growth factor receptor 1
treatment
IEP
RGD
PMID:22500404
RGD:10402076
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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Flt1
Fms related receptor tyrosine kinase 1
treatment
IEP
RGD
PMID:22500404
RGD:10402076
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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Gclm
glutamate cysteine ligase, modifier subunit
susceptibility
ISO
associated with stroke;DNA:polymorphism:promoter:-588C>T(human)
RGD
PMID:17548779
RGD:10402374
NCBI chr 2:225,827,504...225,847,876
Ensembl chr 2:225,827,504...225,847,874
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Gpx1
glutathione peroxidase 1
treatment
IEP
RGD
PMID:24968700
RGD:11352822
NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
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Grin1
glutamate ionotropic receptor NMDA type subunit 1
ISO
associated with Alzheimer's disease
RGD
PMID:25261450
RGD:13792687
NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
ISO
RGD
PMID:25261450
RGD:13792687
NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
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Grin2b
glutamate ionotropic receptor NMDA type subunit 2B
severity
ISO
RGD
PMID:25261450
RGD:13792687
NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
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Gsk3b
glycogen synthase kinase 3 beta
treatment
IDA
RGD
PMID:27118553
RGD:13792766
NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
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Hspa1a
heat shock protein family A (Hsp70) member 1A
ISO
DNA:polymorphism: :-110A>C(human)
RGD
PMID:15832029
RGD:10402403
NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
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Htra1
HtrA serine peptidase 1
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:24500651
NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
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Igf1
insulin-like growth factor 1
severity
ISO IEP
mRNA,protein:decreased expression:hippocampus:
RGD
PMID:16181175 , PMID:22342912
RGD:1598446 , RGD:10045864
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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Igf1r
insulin-like growth factor 1 receptor
ISO
RGD
PMID:16983186
RGD:10045873
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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Il1b
interleukin 1 beta
ISO
protein:increased expression:plasma
RGD
PMID:16600299
RGD:1626633
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Itm2b
integral membrane protein 2B
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
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Krit1
KRIT1, ankyrin repeat containing
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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Mapt
microtubule-associated protein tau
treatment
IDA
RGD
PMID:27118553
RGD:13792766
NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
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Mmp2
matrix metallopeptidase 2
IEP
RGD
PMID:16385583
RGD:1582624
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Mtor
mechanistic target of rapamycin kinase
IEP
protein:decreased expression:hippocampus
RGD
PMID:23053837
RGD:10401142
NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
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Notch3
notch receptor 3
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:26308724 PMID:26467025 PMID:27844030
NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
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Nppa
natriuretic peptide A
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
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Pon2
paraoxonase 2
ISO
DNA:missense mutation:cds:p.C311S (human)
RGD
PMID:11803456
RGD:1580219
NCBI chr 4:30,344,705...30,380,119
Ensembl chr 4:30,344,709...30,380,119
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Psen2
presenilin 2
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
NCBI chr13:98,513,600...98,539,347
Ensembl chr13:98,513,570...98,530,724
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Rpgrip1l
Rpgrip1-like
susceptibility
ISO
DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human)
RGD
PMID:22425971
RGD:13204815
NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
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Rps6
ribosomal protein S6
treatment
IEP
RGD
PMID:25767501
RGD:11041644
NCBI chr 5:105,197,821...105,200,681
Ensembl chr 5:105,197,857...105,200,148
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Sdhaf1
succinate dehydrogenase complex assembly factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19465911
NCBI chr 1:88,779,476...88,780,425
Ensembl chr 1:90,948,976...90,949,332
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Snca
synuclein alpha
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:18577885
RGD:6478792
NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
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Sncg
synuclein, gamma
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:18577885
RGD:6478792
NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
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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 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
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Sst
somatostatin
IEP
protein:decreased expression:brain
RGD
PMID:18925713
RGD:2303174
NCBI chr11:80,358,172...80,359,449
Ensembl chr11:80,358,211...80,359,444
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Tmem106b
transmembrane protein 106B
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
NCBI chr 4:39,517,679...39,534,491
Ensembl chr 4:39,517,548...39,535,169
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:polymorphism:promoter:-850C>T(human)
RGD
PMID:11273064
RGD:13825254
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Tp53
tumor protein p53
IEP
protein:increased expression:brain
RGD
PMID:18083315
RGD:2290557
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Htra1
HtrA serine peptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
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Notch3
notch receptor 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CTD ClinVar
PMID:15229130 PMID:25741868 PMID:26467025
NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
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Notch3
notch receptor 3
ISO
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 ClinVar Annotator: match by term: Recurrent subcortical infarcts
OMIM ClinVar
PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 PMID:10712431 PMID:10716263 PMID:10854111 PMID:10969905 PMID:11102981 PMID:11486103 PMID:11559313 PMID:11571335 PMID:11706120 PMID:11715067 PMID:11755616 PMID:11757773 PMID:11771160 PMID:11784372 PMID:12136071 PMID:12146805 PMID:12196662 PMID:12482954 PMID:12721871 PMID:12754354 PMID:12810003 PMID:12821756 PMID:12821764 PMID:12861102 PMID:14714274 PMID:15229130 PMID:15287509 PMID:15350543 PMID:15364702 PMID:15378071 PMID:15694192 PMID:15776792 PMID:15827866 PMID:15834039 PMID:15857853 PMID:15981641 PMID:15995828 PMID:16009764 PMID:16580020 PMID:16717210 PMID:16730748 PMID:16864835 PMID:17122431 PMID:17323840 PMID:17390743 PMID:17879447 PMID:18765654 PMID:18803652 PMID:18948701 PMID:19006080 PMID:19043263 PMID:19174371 PMID:19180562 PMID:19242647 PMID:19245392 PMID:19252787 PMID:19259619 PMID:19293235 PMID:19359623 PMID:19417009 PMID:19528524 PMID:19542611 PMID:19576955 PMID:19825845 PMID:20038773 PMID:20071773 PMID:20167921 PMID:20301673 PMID:20851625 PMID:20857162 PMID:20935329 PMID:20981092 PMID:21387384 PMID:21555590 PMID:21616505 PMID:21737310 PMID:21852154 PMID:21940951 PMID:22006983 PMID:22019870 PMID:22082899 PMID:22153900 PMID:22159056 PMID:22218279 PMID:22367839 PMID:22373597 PMID:22623959 PMID:22664156 PMID:22795385 PMID:22878905 PMID:22936449 PMID:23025651 PMID:23412372 PMID:23584202 PMID:23602593 PMID:23639391 PMID:23649698 PMID:23844775 PMID:23847153 PMID:24033266 PMID:24086431 PMID:24139282 PMID:24344756 PMID:24425116 PMID:24886907 PMID:24929957 PMID:24936512 PMID:25260786 PMID:25326637 PMID:25344745 PMID:25412914 PMID:25604251 PMID:25623805 PMID:25741868 PMID:25801821 PMID:25819272 PMID:25834748 PMID:25870235 PMID:25929831 PMID:25973016 PMID:25980907 PMID:26002683 PMID:26261665 PMID:26270344 PMID:26308724 PMID:26368811 PMID:26467025 PMID:26646783 PMID:26715087 PMID:26806700 PMID:26850715 PMID:26856460 PMID:26889213 PMID:26894465 PMID:27174004 PMID:27293347 PMID:27350778 PMID:27423596 PMID:27770446 PMID:27844030 PMID:27881154 PMID:27884173 PMID:27890607 PMID:28334938 PMID:28479817 PMID:28492532 PMID:28601945 PMID:28710804 PMID:28991717 PMID:29188607 PMID:29449082 PMID:29980472 PMID:30311053 PMID:30402942 PMID:30956055 PMID:31028544 PMID:32581362
NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
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Htra1
HtrA serine peptidase 1
ISO
ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
ClinVar OMIM
PMID:19387015 PMID:25741868 PMID:26063658 PMID:30981321 PMID:32101834 PMID:32581362
NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
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Htra1
HtrA serine peptidase 1
ISO
ClinVar Annotator: match by term: CARASIL ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ClinVar Annotator: match by OMIM:600142
OMIM ClinVar
PMID:11889251 PMID:18316707 PMID:19387015 PMID:21115960 PMID:21482952 PMID:22900900 PMID:23963851 PMID:24500651 PMID:24535794 PMID:25741868 PMID:25770224 PMID:25772074 PMID:25957642 PMID:26063658 PMID:26467025 PMID:27164673 PMID:32101834 PMID:32581362
NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
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App
amyloid beta precursor protein
ISO
protein:decreased expression:cerebrospinal fluid:
RGD
PMID:1677459
RGD:10054257
NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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Bax
BCL2 associated X, apoptosis regulator
treatment
IEP
RGD
PMID:18938189
RGD:10054050
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
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Bcl2
BCL2, apoptosis regulator
treatment
IEP
RGD
PMID:18938189
RGD:10054050
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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G6pd
glucose-6-phosphate dehydrogenase
treatment
IEP
RGD
PMID:21279683
RGD:10449132
NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
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Il2
interleukin 2
severity
ISO
protein:increased secretion:mononuclear cell:
RGD
PMID:8586980
RGD:10047081
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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