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: A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain. (DO)
Synonyms: exact_synonym: Arteriosclerotic Dementia; 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; acute onset vascular dementia; arteriosclerotic dementias; multifocal dementia; subcortical vascular dementias; vascular dementias
primary_id: MESH:D015140
xref: EFO:0004718 ; 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 PMID:33268848 More...
NCBI chr21:12,324,455...12,608,594
Ensembl chr21:25,684,355...25,995,072
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ATP5F1A
ATP synthase F1 subunit alpha
ISO
RGD
PMID:24448401
RGD:14696801
NCBI chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326
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ATRIP
ATR interacting protein
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 PMID:35307828 More...
NCBI chr 3:48,368,775...48,387,698
Ensembl chr 3:49,450,991...49,469,351
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AVP
arginine vasopressin
ISO
protein:decreased expression:brain
RGD
PMID:18925713
RGD:2303174
NCBI chr20:3,169,094...3,172,900
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BDNF
brain derived neurotrophic factor
treatment
ISO
RGD
PMID:24622829
RGD:10059369
NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
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C1R
complement C1r
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:25741868 PMID:33268848 PMID:35307828
NCBI chr12:7,211,162...7,222,673
Ensembl chr12:7,126,723...7,137,895
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CACNA1A
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:25741868 PMID:33268848
NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
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CCM2
CCM2 scaffold protein
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:28492532 PMID:33268848 PMID:35307828
NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828
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CDK5
cyclin dependent kinase 5
treatment
ISO
RGD
PMID:27118553
RGD:13792766
NCBI chr 7:142,640,630...142,644,785
Ensembl chr 7:154,793,344...154,797,499
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CHMP2B
charged multivesicular body protein 2B
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 3:87,358,297...87,386,556
Ensembl chr 3:89,471,993...89,501,241
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COL4A1
collagen type IV alpha 1 chain
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:28492532 PMID:33268848 PMID:35307828
NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
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COL4A2
collagen type IV alpha 2 chain
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:33268848
NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530
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COLGALT1
collagen beta(1-O)galactosyltransferase 1
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr19:17,042,743...17,070,333
Ensembl chr19:18,013,831...18,043,364
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CREB1
cAMP responsive element binding protein 1
treatment
ISO
RGD
PMID:27923588
RGD:401960869
NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
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DIAPH1
diaphanous related formin 1
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:28492532 PMID:35307828
NCBI chr 5:136,876,396...136,980,097
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DNAJC13
DnaJ heat shock protein family (Hsp40) member C13
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 3:129,492,658...129,612,040
Ensembl chr 3:136,970,007...137,088,775
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EIF4E
eukaryotic translation initiation factor 4E
ISO
protein:decreased expression:hippocampus
RGD
PMID:23053837
RGD:10401142
NCBI chr 4:91,268,463...91,329,800
Ensembl chr 4:101,941,142...101,994,809
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EPO
erythropoietin
ISO
RGD
PMID:17037738
RGD:10400891
NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
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FGFR1
fibroblast growth factor receptor 1
treatment
ISO
RGD
PMID:22500404
RGD:10402076
NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904
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FLT1
fms related receptor tyrosine kinase 1
treatment
ISO
RGD
PMID:22500404
RGD:10402076
NCBI chr13:9,584,850...9,779,542
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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 1:96,548,850...96,573,273
Ensembl chr 1:95,278,665...95,297,893
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GPX1
glutathione peroxidase 1
treatment
ISO
RGD
PMID:24968700
RGD:11352822
NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
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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 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382
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GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167
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GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
severity
ISO
RGD
PMID:25261450
RGD:13792687
NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799
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GSK3B
glycogen synthase kinase 3 beta
treatment
ISO
RGD
PMID:27118553
RGD:13792766
NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771
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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 chr 6:31,476,710...31,491,411
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HTRA1
HtrA serine peptidase 1
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:24500651 PMID:25741868 PMID:33268848 PMID:35307828
NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
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IGF1
insulin like growth factor 1
severity
ISO
mRNA,protein:decreased expression:hippocampus:
RGD
PMID:16181175 PMID:22342912
RGD:10045864 RGD:1598446
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
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IGF1R
insulin like growth factor 1 receptor
ISO
RGD
PMID:16983186
RGD:10045873
NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
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IL1B
interleukin 1 beta
ISO
protein:increased expression:plasma
RGD
PMID:16600299
RGD:1626633
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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ITM2B
integral membrane protein 2B
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:33268848
NCBI chr13:29,383,318...29,412,018
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KRIT1
KRIT1 ankyrin repeat containing
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:33268848
NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895
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LPA
lipoprotein(a)
ISO
protein:alternative form:plasma:presence of low molecular weight isoform(s) increased risk
RGD
PMID:15211075
RGD:5509891
NCBI chr 6:158,434,394...158,628,028
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MAPK1
mitogen-activated protein kinase 1
treatment
ISO
RGD
PMID:24070657
RGD:405096669
NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
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MAPT
microtubule associated protein tau
treatment
ISO
RGD
PMID:27118553
RGD:13792766
NCBI chr17:11,373,220...11,506,669
Ensembl chr17:11,458,159...11,523,129
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MMP2
matrix metallopeptidase 2
ISO
RGD
PMID:16385583
RGD:1582624
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
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MTHFR
methylenetetrahydrofolate reductase
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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MTOR
mechanistic target of rapamycin kinase
ISO
protein:decreased expression:hippocampus
RGD
PMID:23053837
RGD:10401142
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
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NEFL
neurofilament light chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:29391125
RGD:127285384
NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
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NMNAT2
nicotinamide nucleotide adenylyltransferase 2
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 1:158,768,949...158,948,711
Ensembl chr 1:162,929,609...163,105,524
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NOTCH3
notch receptor 3
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:14714274 PMID:15364702 PMID:16009764 PMID:24840674 PMID:25033846 PMID:25741868 PMID:25914166 PMID:26308724 PMID:26467025 PMID:27844030 PMID:28492532 PMID:30032161 PMID:30402942 PMID:30532056 PMID:33268848 PMID:33310205 PMID:34841502 PMID:35822697 More...
NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
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NOX1
NADPH oxidase 1
treatment
ISO
RGD
PMID:24294978
RGD:329955573
NCBI chr X:90,046,023...90,076,968
Ensembl chr X:100,182,398...100,215,192
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NPPA
natriuretic peptide A
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:28492532 PMID:33268848
NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
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PCNT
pericentrin
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990
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PDE9A
phosphodiesterase 9A
treatment
ISO
RGD
PMID:30916555
RGD:242905183
NCBI chr21:28,963,181...29,088,395
Ensembl chr21:42,275,697...42,398,681
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POLG
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:25741868 PMID:25850945 PMID:26467025 PMID:28492532 PMID:35307828
NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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PON2
paraoxonase 2
ISO
DNA:missense mutation:cds:p.C311S (human)
RGD
PMID:11803456
RGD:1580219
NCBI chr 7:87,362,447...87,392,795
Ensembl chr 7:100,950,074...100,980,433
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PRNP
prion protein (Kanno blood group)
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr20:4,713,616...4,728,847
Ensembl chr20:4,523,155...4,523,916
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PSEN2
presenilin 2
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:26522186 PMID:33268848
NCBI chr 1:202,328,987...202,354,440
Ensembl chr 1:207,320,937...207,346,295
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RPGRIP1L
RPGRIP1 like
susceptibility
ISO
DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human)
RGD
PMID:22425971
RGD:13204815
NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174
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RPS6
ribosomal protein S6
treatment
ISO
RGD
PMID:25767501
RGD:11041644
NCBI chr 9:19,185,455...19,189,504
Ensembl chr 9:19,674,380...19,677,722
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SDHAF1
succinate dehydrogenase complex assembly factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19465911
NCBI chr19:32,911,720...32,912,893
Ensembl chr19:41,660,221...41,660,568
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SLC20A2
solute carrier family 20 member 2
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 8:41,663,200...41,786,314
Ensembl chr 8:39,109,265...39,162,456
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SMAD4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:28492532 PMID:35307828
NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
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SNCA
synuclein alpha
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 4:82,018,585...82,132,938
Ensembl chr 4:92,737,608...92,850,600
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SNCG
synuclein gamma
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:18577885
RGD:6478792
NCBI chr10:83,383,566...83,391,064
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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 chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947
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SST
somatostatin
ISO
protein:decreased expression:brain
RGD
PMID:18925713
RGD:2303174
NCBI chr 3:184,695,561...184,697,091
Ensembl chr 3:193,155,363...193,158,337
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THSD1
thrombospondin type 1 domain containing 1
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr13:33,442,480...33,472,259
Ensembl chr13:52,301,206...52,330,504
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TMEM106B
transmembrane protein 106B
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:33268848
NCBI chr 7:12,905,192...12,931,170
Ensembl chr 7:12,250,010...12,270,693
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TNF
tumor necrosis factor
susceptibility
ISO
DNA:polymorphism:promoter:-850C>T(human)
RGD
PMID:11273064
RGD:13825254
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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TP53
tumor protein p53
ISO
protein:increased expression:brain
RGD
PMID:18083315
RGD:2290557
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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TREX1
three prime repair exonuclease 1
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 PMID:35307828 More...
NCBI chr 3:48,387,762...48,389,693
Ensembl chr 3:49,470,222...49,471,331
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TSC2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:28492532 PMID:35307828
NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
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TUBB2A
tubulin beta 2A class IIa
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 6:2,993,653...2,997,570
Ensembl chr 6:3,080,751...3,255,882
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UBQLN2
ubiquilin 2
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr X:48,829,844...48,835,040
Ensembl chr X:56,981,985...56,983,859
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VPS13A
vacuolar protein sorting 13 homolog A
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 9:47,424,921...47,668,150
Ensembl chr 9:76,032,286...76,269,636
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ATRIP
ATR interacting protein
ISO
ClinVar Annotator: match by term: CASIL
ClinVar
PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 PMID:35307828 More...
NCBI chr 3:48,368,775...48,387,698
Ensembl chr 3:49,450,991...49,469,351
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HTRA1
HtrA serine peptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
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NOTCH3
notch receptor 3
ISO
ClinVar Annotator: match by term: CASIL | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type
ClinVar
PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 PMID:10854111 PMID:10969905 PMID:11102981 PMID:11486103 PMID:11559313 PMID:11715067 PMID:11755616 PMID:11771160 PMID:12754354 PMID:12810003 PMID:14714274 PMID:15229130 PMID:15350543 PMID:15364702 PMID:15378071 PMID:15694192 PMID:15834039 PMID:15857853 PMID:16009764 PMID:16256149 PMID:16580020 PMID:16717210 PMID:17122431 PMID:17135568 PMID:19153638 PMID:19174371 PMID:19242647 PMID:19252787 PMID:19293235 PMID:19359623 PMID:19417009 PMID:19542611 PMID:19825845 PMID:20038773 PMID:20071773 PMID:20167921 PMID:20301673 PMID:20935329 PMID:20975277 PMID:21852154 PMID:21940951 PMID:22019870 PMID:22082899 PMID:22218279 PMID:22259617 PMID:22623959 PMID:22664156 PMID:23584202 PMID:23602593 PMID:23844775 PMID:23847153 PMID:24086431 PMID:24139282 PMID:24344756 PMID:24425116 PMID:24480794 PMID:24840674 PMID:24886907 PMID:25033846 PMID:25344745 PMID:25412914 PMID:25604251 PMID:25623805 PMID:25692567 PMID:25741868 PMID:25819272 PMID:25914166 PMID:25929831 PMID:25959358 PMID:26002683 PMID:26261665 PMID:26270344 PMID:26305465 PMID:26308724 PMID:26368811 PMID:26467025 PMID:26646783 PMID:26671140 PMID:27245348 PMID:27844030 PMID:27881154 PMID:27890607 PMID:28334938 PMID:28341077 PMID:28492532 PMID:28534048 PMID:28555127 PMID:28710804 PMID:28860774 PMID:28991717 PMID:29370179 PMID:29544907 PMID:29980472 PMID:30199759 PMID:30311053 PMID:30656190 PMID:30906334 PMID:30956055 PMID:31418856 PMID:31443546 PMID:31554780 PMID:31792094 PMID:31836585 PMID:31915071 PMID:31996268 PMID:32055601 PMID:32122318 PMID:32172663 PMID:32277177 PMID:32457593 PMID:32555735 PMID:32573853 PMID:32581362 PMID:32732295 PMID:33712516 PMID:33942994 PMID:34008892 PMID:34297860 PMID:34335700 PMID:34352628 PMID:34741685 PMID:34881353 PMID:35300531 PMID:36221938 More...
NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
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TREX1
three prime repair exonuclease 1
ISO
ClinVar Annotator: match by term: CASIL
ClinVar
PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 PMID:35307828 More...
NCBI chr 3:48,387,762...48,389,693
Ensembl chr 3:49,470,222...49,471,331
G
NOTCH3
notch receptor 3
ISO
ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, 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:10802804 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:12395806 PMID:12482954 PMID:12754354 PMID:12810003 PMID:12821756 PMID:12821764 PMID:12861102 PMID:14714274 PMID:15229130 PMID:15350543 PMID:15364702 PMID:15378071 PMID:15694192 PMID:15776792 PMID:15827866 PMID:15834039 PMID:15857853 PMID:15995828 PMID:16009764 PMID:16193256 PMID:16256149 PMID:16580020 PMID:16717210 PMID:16730748 PMID:16791082 PMID:16864835 PMID:17122431 PMID:17135568 PMID:17218610 PMID:17323840 PMID:17389000 PMID:17390743 PMID:17729386 PMID:17761910 PMID:17879445 PMID:17879447 PMID:18384453 PMID:18386330 PMID:18386331 PMID:18765654 PMID:18803652 PMID:18948701 PMID:19006080 PMID:19043263 PMID:19080749 PMID:19174371 PMID:19180562 PMID:19242647 PMID:19245392 PMID:19252787 PMID:19259619 PMID:19293235 PMID:19359623 PMID:19417009 PMID:19488902 PMID:19528524 PMID:19539236 PMID:19542611 PMID:19576955 PMID:19683925 PMID:19825845 PMID:20038773 PMID:20071773 PMID:20167921 PMID:20169447 PMID:20301673 PMID:20851625 PMID:20857162 PMID:20935329 PMID:20981092 PMID:21078731 PMID:21345538 PMID:21387384 PMID:21448560 PMID:21555590 PMID:21616505 PMID:21737310 PMID:21786151 PMID:21852154 PMID:21940951 PMID:22006983 PMID:22019870 PMID:22053260 PMID:22082899 PMID:22153900 PMID:22159056 PMID:22206696 PMID:22218279 PMID:22367839 PMID:22373597 PMID:22623959 PMID:22664156 PMID:22688109 PMID:22795385 PMID:22878905 PMID:23025651 PMID:23028706 PMID:23064698 PMID:23412372 PMID:23584202 PMID:23602593 PMID:23623146 PMID:23639391 PMID:23649698 PMID:23844775 PMID:23847153 PMID:24033266 PMID:24086431 PMID:24139282 PMID:24344756 PMID:24425116 PMID:24480794 PMID:24840674 PMID:24844136 PMID:24886907 PMID:24929957 PMID:24936512 PMID:25033846 PMID:25260786 PMID:25326637 PMID:25344745 PMID:25412914 PMID:25604251 PMID:25623805 PMID:25692567 PMID:25741868 PMID:25801821 PMID:25819272 PMID:25834748 PMID:25870235 PMID:25914166 PMID:25929831 PMID:25959358 PMID:25973016 PMID:25980907 PMID:25982499 PMID:26002683 PMID:26261665 PMID:26270344 PMID:26305465 PMID:26308724 PMID:26368811 PMID:26467025 PMID:26618768 PMID:26646783 PMID:26671140 PMID:26715087 PMID:26806700 PMID:26843489 PMID:26850715 PMID:26856460 PMID:26889213 PMID:26894465 PMID:26912635 PMID:27174004 PMID:27206574 PMID:27293347 PMID:27350778 PMID:27423596 PMID:27770446 PMID:27844030 PMID:27881154 PMID:27884173 PMID:27890607 PMID:28166811 PMID:28334938 PMID:28341077 PMID:28479817 PMID:28492532 PMID:28534048 PMID:28601945 PMID:28710804 PMID:28815929 PMID:28860774 PMID:28902129 PMID:28991717 PMID:29363903 PMID:29449082 PMID:29980472 PMID:30031255 PMID:30032161 PMID:30076350 PMID:30199759 PMID:30212743 PMID:30279455 PMID:30311053 PMID:30338453 PMID:30355220 PMID:30402942 PMID:30532056 PMID:30656190 PMID:30906334 PMID:30954774 PMID:30956055 PMID:31028544 PMID:31212292 PMID:31418856 PMID:31433517 PMID:31443546 PMID:31554780 PMID:31680059 PMID:31792094 PMID:31799216 PMID:31813735 PMID:31915071 PMID:31960911 PMID:31998484 PMID:32055601 PMID:32122318 PMID:32128266 PMID:32172663 PMID:32196841 PMID:32277177 PMID:32348626 PMID:32387185 PMID:32457593 PMID:32552418 PMID:32555735 PMID:32573853 PMID:32581362 PMID:32612778 PMID:32732295 PMID:32765252 PMID:32912545 PMID:33013620 PMID:33020014 PMID:33061333 PMID:33091750 PMID:33109952 PMID:33161844 PMID:33161845 PMID:33268848 PMID:33310205 PMID:33712516 PMID:33942994 PMID:34008892 PMID:34074565 PMID:34335700 PMID:34374989 PMID:34691145 PMID:34741685 PMID:34841502 PMID:34851492 PMID:35226365 PMID:35401403 PMID:35754959 PMID:35775048 PMID:35822697 PMID:36044383 PMID:36157006 PMID:36300346 PMID:36401683 PMID:36402400 PMID:36479049 PMID:36535904 PMID:36580209 PMID:37479695 More...
NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
G
ARMS2
age-related maculopathy susceptibility 2
ISO
ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
ClinVar
PMID:25741868
NCBI chr10:119,022,726...119,026,201
Ensembl chr10:122,434,856...122,437,551
G
HTRA1
HtrA serine peptidase 1
ISO
ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | ClinVar Annotator: match by term: HTRA1-related autosomal dominant cerebral small vessel disease
OMIM ClinVar
PMID:19387015 PMID:25712943 PMID:25741868 PMID:26063658 PMID:26467025 PMID:27164673 PMID:28402226 PMID:28492532 PMID:29561953 PMID:29895533 PMID:30447605 PMID:30981321 PMID:31316458 PMID:32101834 PMID:32581362 PMID:34220097 More...
NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
G
NOTCH3
notch receptor 3
ISO
ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2
ClinVar
PMID:28492532
NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
G
ARMS2
age-related maculopathy susceptibility 2
ISO
ClinVar Annotator: match by term: CARASIL syndrome
ClinVar
PMID:18316707 PMID:20437615 PMID:26467025 PMID:28492532
NCBI chr10:119,022,726...119,026,201
Ensembl chr10:122,434,856...122,437,551
G
HTRA1
HtrA serine peptidase 1
ISO
ClinVar Annotator: match by term: CARASIL | ClinVar Annotator: match by term: CARASIL syndrome | ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease | ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease
OMIM ClinVar
PMID:11889251 PMID:18316707 PMID:19387015 PMID:20437615 PMID:21115960 PMID:21482952 PMID:22900900 PMID:23963851 PMID:24500651 PMID:24535794 PMID:25506911 PMID:25741868 PMID:25770224 PMID:25772074 PMID:25957642 PMID:26063658 PMID:26467025 PMID:27164673 PMID:27353043 PMID:28492532 PMID:28782182 PMID:29561953 PMID:29895533 PMID:30859180 PMID:31316458 PMID:32101834 PMID:32581362 PMID:33268848 PMID:34220097 PMID:36047879 PMID:36253578 PMID:36261288 PMID:36380532 More...
NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
G
APP
amyloid beta precursor protein
ISO
protein:decreased expression:cerebrospinal fluid:
RGD
PMID:1677459
RGD:10054257
NCBI chr21:12,324,455...12,608,594
Ensembl chr21:25,684,355...25,995,072
G
BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:18938189
RGD:10054050
NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
G
BCL2
BCL2 apoptosis regulator
treatment
ISO
RGD
PMID:18938189
RGD:10054050
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
G
G6PD
glucose-6-phosphate dehydrogenase
treatment
ISO
RGD
PMID:21279683
RGD:10449132
NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674
G
IL2
interleukin 2
severity
ISO
protein:increased secretion:mononuclear cell:
RGD
PMID:8586980
RGD:10047081
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
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