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: intracranial arterial disease
Accession: DOID:13089
browse the term
Definition: Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.
Synonyms: exact_synonym: Arterial Brain Disease; Arterial Brain Diseases; Arterial Brain Disorder; Arterial Brain Disorders; Intracranial Arterial Disorder; Intracranial Arterial Disorders; intracranial arterial diseases
primary_id: MESH:D020765 ; RDO:0005158
xref: EFO:1000990
For additional species annotation, visit the
Alliance of Genome Resources .
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APP
amyloid beta precursor protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31939705
NCBI chr13:189,434,854...189,716,120
Ensembl chr13:189,435,094...189,716,056
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APP
amyloid beta precursor protein
ISO
ClinVar Annotator: match by term: AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT | ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related
OMIM ClinVar
PMID:1303172 PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 PMID:1634237 PMID:1671712 PMID:1674311 PMID:1678057 PMID:1678058 PMID:1679288 PMID:1679289 PMID:1908231 PMID:1925564 PMID:2111584 PMID:7611715 PMID:8191290 PMID:8290965 PMID:8410047 PMID:8499923 PMID:8513318 PMID:8577393 PMID:8610157 PMID:8649577 PMID:8863158 PMID:8886002 PMID:9328472 PMID:9754958 PMID:9848098 PMID:10441572 PMID:10631141 PMID:10821838 PMID:11004129 PMID:11311152 PMID:11409420 PMID:11441013 PMID:11487570 PMID:11528419 PMID:11568920 PMID:11978821 PMID:12552037 PMID:12654973 PMID:14623725 PMID:15365148 PMID:15488330 PMID:15502844 PMID:15776278 PMID:16033913 PMID:16178030 PMID:16921174 PMID:16931535 PMID:18413473 PMID:19061884 PMID:19225789 PMID:19281847 PMID:19363265 PMID:20228223 PMID:20301414 PMID:20523046 PMID:20697050 PMID:21193246 PMID:21210284 PMID:22503161 PMID:22514144 PMID:23143229 PMID:23224319 PMID:23919771 PMID:24033266 PMID:24278680 PMID:24524897 PMID:24650794 PMID:24878480 PMID:25138979 PMID:25604855 PMID:25741868 PMID:25948718 PMID:26104569 PMID:26402770 PMID:26467025 PMID:26803359 PMID:27000221 PMID:27838006 PMID:27858710 PMID:28304299 PMID:28350801 PMID:28492532 PMID:29263818 PMID:29459625 PMID:29859640 PMID:30279455 PMID:30868685 PMID:31011484 PMID:31937505 PMID:32087291 PMID:32317127 PMID:32775599 PMID:32908482 PMID:32917274 PMID:34532568 PMID:36133075 PMID:37051054 PMID:37170141 More...
NCBI chr13:189,434,854...189,716,120
Ensembl chr13:189,435,094...189,716,056
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ACVRL1
activin A receptor like type 1
ISO
OMIM:108010
MouseDO
NCBI chr 5:17,267,483...17,284,155
Ensembl chr 5:17,268,130...17,286,276
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ADGRV1
adhesion G protein-coupled receptor V1
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:28854169 PMID:29925953 PMID:31891627 PMID:34476331 More...
NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553
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CACNA1H
calcium voltage-gated channel subunit alpha1 H
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:40,637,420...40,694,616
Ensembl chr 3:40,637,427...40,695,177
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CDH2
cadherin 2
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 6:112,396,713...112,629,073
Ensembl chr 6:112,396,721...112,628,432
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EGFR
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
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ENG
endoglin
disease_progression
ISO
DNA:polymorphism: : 207G>A(human) ClinVar Annotator: match by term: Cerebral arteriovenous malformation
RGD ClinVar
PMID:15879500 PMID:24876084 PMID:25741868 PMID:28492532 PMID:30120215
RGD:11041171
NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783
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FLT1
fms related receptor tyrosine kinase 1
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264
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GLI2
GLI family zinc finger 2
ISO
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar
PMID:25741868
NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306
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IL17RD
interleukin 17 receptor D
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901
NCBI chr13:38,935,631...39,006,721
Ensembl chr13:38,939,316...39,006,690
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IL6
interleukin 6
ISO
OMIM
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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KDR
kinase insert domain receptor
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
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KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation
OMIM ClinVar
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 PMID:12460918 PMID:12720172 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16474404 PMID:16474405 PMID:16618717 PMID:16773572 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17384584 PMID:17409930 PMID:17551339 PMID:17704260 PMID:17875937 PMID:17910045 PMID:18316791 PMID:18456719 PMID:18628094 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19349489 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20652921 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20949621 PMID:21044336 PMID:21062266 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21871821 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22407852 PMID:22499344 PMID:22683711 PMID:22722830 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23255105 PMID:23325582 PMID:23406027 PMID:24033266 PMID:24138715 PMID:24703799 PMID:24803665 PMID:25044103 PMID:25157968 PMID:25326637 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26372703 PMID:26619011 PMID:28492532 PMID:29298116 PMID:29948256 PMID:30443000 PMID:31891627 PMID:35794233 More...
NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
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LEMD3
LEM domain containing 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 5:29,596,334...29,672,704
Ensembl chr 5:29,596,334...29,673,875
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MAP4K4
mitogen-activated protein kinase kinase kinase kinase 4
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 3:52,483,028...52,649,480
Ensembl chr 3:52,484,274...52,649,410
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NLRP3
NLR family pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228
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NOTCH4
notch receptor 4
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868 PMID:27231971
NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281
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PDCD10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar
PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 PMID:25741868 PMID:28492532 More...
NCBI chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895
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PITPNM3
PITPNM family member 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr12:50,806,302...50,898,316
Ensembl chr12:50,742,773...50,898,331
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PREX2
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 4:66,712,412...66,996,258
Ensembl chr 4:66,715,237...66,996,044
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SARS1
seryl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 4:110,857,067...110,874,712
Ensembl chr 4:110,857,089...110,874,815
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SCUBE2
signal peptide, CUB domain and EGF like domain containing 2
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 9:389,806...457,651
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SYN3
synapsin III
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 5:12,017,741...12,501,995
Ensembl chr 5:12,473,793...12,500,076
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TIMP3
TIMP metallopeptidase inhibitor 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581
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VEGFA
vascular endothelial growth factor A
ISO
RGD
PMID:16388189
RGD:1580567
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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ZFYVE16
zinc finger FYVE-type containing 16
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 2:89,044,860...89,109,237
Ensembl chr 2:89,045,362...89,106,975
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ATRIP
ATR interacting protein
ISO
ClinVar Annotator: match by term: CASIL
ClinVar
PMID:17660818 PMID:21270825 PMID:23881107 PMID:23979357 PMID:25741868 PMID:28492532 PMID:35307828 PMID:36586737 More...
NCBI chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,178,715
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HTRA1
HtrA serine peptidase 1
ISO
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,041,934...132,103,595
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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:3435268 PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 PMID:10716263 PMID:10854111 PMID:10969905 PMID:11102981 PMID:11486103 PMID:11559313 PMID:11715067 PMID:11755616 PMID:11757773 PMID:11771160 PMID:12136071 PMID:12146805 PMID:12395806 PMID:12482954 PMID:12754354 PMID:12810003 PMID:14714274 PMID:15229130 PMID:15350543 PMID:15364702 PMID:15378071 PMID:15694192 PMID:15834039 PMID:15857853 PMID:15995828 PMID:16009764 PMID:16256149 PMID:16580020 PMID:16717210 PMID:16730748 PMID:17122431 PMID:17135558 PMID:17135568 PMID:17218610 PMID:17323840 PMID:17390743 PMID:17879445 PMID:17879447 PMID:18384453 PMID:18386331 PMID:18803652 PMID:18948701 PMID:19006080 PMID:19080749 PMID:19153638 PMID:19174371 PMID:19180562 PMID:19242647 PMID:19252787 PMID:19259619 PMID:19293235 PMID:19359623 PMID:19417009 PMID:19542611 PMID:19576955 PMID:19825845 PMID:20038773 PMID:20071773 PMID:20167921 PMID:20301673 PMID:20857162 PMID:20935329 PMID:20975277 PMID:21078731 PMID:21555590 PMID:21616505 PMID:21737310 PMID:21786151 PMID:21852154 PMID:21940951 PMID:22006983 PMID:22019870 PMID:22082899 PMID:22153900 PMID:22218279 PMID:22259617 PMID:22373597 PMID:22623959 PMID:22664156 PMID:22795385 PMID:22878905 PMID:23025651 PMID:23584202 PMID:23602593 PMID:23639391 PMID:23844775 PMID:23847153 PMID:24033266 PMID:24086431 PMID:24139282 PMID:24344756 PMID:24425116 PMID:24480794 PMID:24840674 PMID:24844136 PMID:24886907 PMID:25033846 PMID:25260786 PMID:25326637 PMID:25344745 PMID:25412914 PMID:25604251 PMID:25623805 PMID:25692567 PMID:25741868 PMID:25801821 PMID:25819272 PMID:25914166 PMID:25929831 PMID:25959358 PMID:25980907 PMID:26002683 PMID:26261665 PMID:26270344 PMID:26305465 PMID:26308724 PMID:26368811 PMID:26467025 PMID:26646783 PMID:26671140 PMID:26715087 PMID:26806700 PMID:26856460 PMID:26889213 PMID:27245348 PMID:27293347 PMID:27350778 PMID:27423596 PMID:27844030 PMID:27881154 PMID:27890607 PMID:28334938 PMID:28341077 PMID:28479817 PMID:28492532 PMID:28534048 PMID:28555127 PMID:28710804 PMID:28815929 PMID:28860774 PMID:28991717 PMID:29363903 PMID:29370179 PMID:29449082 PMID:29544907 PMID:29980472 PMID:30199759 PMID:30212743 PMID:30279455 PMID:30311053 PMID:30338453 PMID:30402942 PMID:30656190 PMID:30906334 PMID:30954774 PMID:30956055 PMID:31418856 PMID:31433517 PMID:31443546 PMID:31554780 PMID:31792094 PMID:31836585 PMID:31915071 PMID:31996268 PMID:31998484 PMID:32055601 PMID:32122318 PMID:32128266 PMID:32172663 PMID:32231578 PMID:32277177 PMID:32348626 PMID:32457593 PMID:32555735 PMID:32573853 PMID:32581362 PMID:32612778 PMID:32732295 PMID:32765252 PMID:32912545 PMID:33013620 PMID:33061333 PMID:33091750 PMID:33161844 PMID:33161845 PMID:33712516 PMID:33942994 PMID:34008892 PMID:34297860 PMID:34335700 PMID:34352628 PMID:34374989 PMID:34741685 PMID:34851492 PMID:34881353 PMID:35226365 PMID:35300531 PMID:35401403 PMID:35754959 PMID:35775048 PMID:35822697 PMID:36157006 PMID:36221938 PMID:36300346 PMID:36401683 PMID:36535904 PMID:36580209 PMID:37479695 More...
NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
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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:23979357 PMID:25741868 PMID:28492532 PMID:35307828 PMID:36586737 More...
NCBI chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747
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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:3435268 PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 PMID:10712431 PMID:10716263 PMID:10802804 PMID:10854111 PMID:10969905 PMID:11058919 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:14710716 PMID:14714274 PMID:15229130 PMID:15350543 PMID:15364702 PMID:15378071 PMID:15694192 PMID:15714997 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:17135558 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:19153638 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:20975277 PMID:20981092 PMID:21078731 PMID:21345538 PMID:21387384 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:22259617 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:27245348 PMID:27293347 PMID:27350778 PMID:27423596 PMID:27770446 PMID:27844030 PMID:27881154 PMID:27884173 PMID:27890607 PMID:28003435 PMID:28334938 PMID:28341077 PMID:28479817 PMID:28492532 PMID:28534048 PMID:28555127 PMID:28601945 PMID:28710804 PMID:28815929 PMID:28860774 PMID:28902129 PMID:28991717 PMID:29363903 PMID:29449082 PMID:29544907 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:31719132 PMID:31792094 PMID:31799216 PMID:31813735 PMID:31915071 PMID:31960911 PMID:31996268 PMID:31998484 PMID:32055601 PMID:32122318 PMID:32128266 PMID:32172663 PMID:32196841 PMID:32231578 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:34297860 PMID:34335700 PMID:34352628 PMID:34374989 PMID:34691145 PMID:34741685 PMID:34841502 PMID:34851492 PMID:34881353 PMID:35226365 PMID:35300531 PMID:35401403 PMID:35754959 PMID:35775048 PMID:35822697 PMID:36044383 PMID:36157006 PMID:36221938 PMID:36292254 PMID:36300346 PMID:36401683 PMID:36402400 PMID:36479049 PMID:36535904 PMID:36580209 PMID:37479695 More...
NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
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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 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 chr14:132,043,044...132,103,590
Ensembl chr14:132,041,934...132,103,595
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NOTCH3
notch receptor 3
ISO
ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2
ClinVar
PMID:28492532
NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
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APOA1
apolipoprotein A1
ISO
RGD
PMID:20739292
RGD:5508213
NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713
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APOE
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11061249
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
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APP
amyloid beta precursor protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21520056
NCBI chr13:189,434,854...189,716,120
Ensembl chr13:189,435,094...189,716,056
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AQP4
aquaporin 4
ISO
RGD
PMID:21107133
RGD:5148012
NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
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CCR1
C-C motif chemokine receptor 1
ISO
RGD
PMID:14595653
RGD:5688166
NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960
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ITM2B
integral membrane protein 2B
ISO
MouseDO
NCBI chr11:19,349,088...19,377,931
Ensembl chr11:19,349,134...19,377,917
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LOC110256000
membrane primary amine oxidase-like
ISO
associated with Alzheimer Disease;protein:increased expression:brain
RGD
PMID:17393059
RGD:2313919
NCBI chr12:19,996,324...20,007,006
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MME
membrane metalloendopeptidase
severity
ISO
associated with Alzheimer Disease;protein:decreased expression:frontal lobe cortex (human)
RGD
PMID:17021406 PMID:21382117
RGD:13801026 RGD:1600811
NCBI chr13:95,018,395...95,122,977
Ensembl chr13:95,019,081...95,126,045
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OLR1
oxidized low density lipoprotein receptor 1
ISO
RGD
PMID:16328515
RGD:1580993
NCBI chr 5:61,799,356...61,809,691
Ensembl chr 5:61,799,286...61,810,624
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EPHB2
EPH receptor B2
ameliorates
ISO
RGD
PMID:18639535
RGD:127285624
NCBI chr 6:80,649,098...80,849,979
Ensembl chr 6:80,650,740...80,843,567
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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:32042911 PMID:32101834 PMID:32581362 PMID:33268848 PMID:34220097 PMID:35307828 PMID:35606766 PMID:36047879 PMID:36253578 PMID:36261288 PMID:36380532 PMID:37348440 More...
NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,041,934...132,103,595
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PURA
purine rich element binding protein A
ISO
ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease
ClinVar
PMID:24500651 PMID:27148565
NCBI chr 2:141,877,775...141,899,259
Ensembl chr 2:141,884,155...141,886,330
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GNA14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome
ClinVar
NCBI chr 1:230,341,947...230,545,123
Ensembl chr 1:230,341,942...230,546,120
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APP
amyloid beta precursor protein
ISO
ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis
ClinVar
PMID:25604855 PMID:25741868 PMID:28492532 PMID:30279455
NCBI chr13:189,434,854...189,716,120
Ensembl chr13:189,435,094...189,716,056
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CST3
cystatin C
ISO
ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type
OMIM ClinVar
PMID:2363674 PMID:2567273 PMID:2900981 PMID:8108423 PMID:11815350 PMID:25741868 PMID:25893795 PMID:28492532 PMID:33116287 More...
NCBI chr17:30,471,056...30,474,486
Ensembl chr17:30,470,855...30,474,590
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AGER
advanced glycosylation end-product specific receptor
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:23844137
RGD:8547935
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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BCL2
BCL2 apoptosis regulator
treatment
ISO
RGD
PMID:25316629
RGD:11522723
NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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CCDC180
coiled-coil domain containing 180
ISO
ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial
ClinVar
PMID:25741868
NCBI chr 1:239,207,628...239,275,402
Ensembl chr 1:239,209,387...239,270,803
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CCL2
chemokine (C-C motif) ligand 2
ISO
mRNA:increased expression:circle of Willis (rat)
RGD
PMID:19164781 PMID:25316629
RGD:11522723 RGD:2307000
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CCN1
cellular communication network factor 1
disease_progression
ISO
protein:increased expression:common carotid artery plus branches (Rat)
RGD
PMID:33885814
RGD:329812012
NCBI chr 4:130,392,404...130,395,179
Ensembl chr 4:130,392,407...130,395,150
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COL1A2
collagen type I alpha 2 chain
ISO
RGD
PMID:14739420
RGD:1581199
NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397
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COL22A1
collagen type XXII alpha 1 chain
susceptibility
ISO
DNA:SNPs:cds:multiple(human)
RGD
PMID:30541770
RGD:13831344
NCBI chr 4:4,069,045...4,313,198
Ensembl chr 4:4,069,076...4,313,195
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CST3
cystatin C
ISO
mRNA:decreased expression:brain, artery protein:decreased expression:brain, artery
RGD
PMID:18635848
RGD:2306495
NCBI chr17:30,471,056...30,474,486
Ensembl chr17:30,470,855...30,474,590
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CTSB
cathepsin B
ISO
mRNA, protein:increased expression, increased activity:Circle of Willis (rat) protein:increased expression:cerebral aneurysm (human)
RGD
PMID:18635848
RGD:2306495
NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,033,877
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CTSK
cathepsin K
ISO
protein:increased expression:brain, artery mRNA:increased expression:brain, artery
RGD
PMID:18635848
RGD:2306495
NCBI chr 4:98,389,459...98,404,969
Ensembl chr 4:98,391,428...98,404,961
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CTSS
cathepsin S
ISO
mRNA:increased expression:brain, artery protein:increased expression:brain, artery
RGD
PMID:18635848
RGD:2306495
NCBI chr 4:98,415,273...98,442,952
Ensembl chr 4:98,417,883...98,442,950
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EDN1
endothelin 1
ISO
protein:increased expression:serum
RGD
PMID:32602008
RGD:155882593
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
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ENG
endoglin
ISO
DNA:missense mutation:exon 2:c.179-180CC>AA, p.A60E
RGD
PMID:10223461 PMID:19299629
RGD:1580964 RGD:329845530
NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783
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FBN2
fibrillin 2
ISO
ClinVar Annotator: match by term: Brain aneurysm
ClinVar
PMID:16835936 PMID:19006240 PMID:25525159 PMID:25741868 PMID:26038974 PMID:28492532 More...
NCBI chr 2:131,150,665...131,370,241
Ensembl chr 2:131,150,667...131,370,466
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IL6
interleukin 6
ISO
RGD
PMID:16648144
RGD:1580488
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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KLF5
KLF transcription factor 5
ISO
protein:increased expression:artery
RGD
PMID:30201338
RGD:155883158
NCBI chr11:45,370,009...45,386,673
Ensembl chr11:45,369,810...45,388,314
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KMT2D
lysine methyltransferase 2D
susceptibility
ISO
DNA:SNP: :rs3782356(human)
RGD
PMID:30121816
RGD:155582216
NCBI chr 5:15,049,827...15,091,622
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LOC110256000
membrane primary amine oxidase-like
ISO
protein:decreased expression:cerebral artery
RGD
PMID:18312104
RGD:2313912
NCBI chr12:19,996,324...20,007,006
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MIR143
microRNA mir-143
ISO
RNA:decreased expression:serum RNA:decreased expression:artery
RGD
PMID:30201338 PMID:32602008
RGD:155882593 RGD:155883158
NCBI chr 2:150,578,738...150,578,817
Ensembl chr 2:150,578,738...150,578,817
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MIR145
microRNA mir-145
ISO
RNA:decreased expression:serum
RGD
PMID:30201338
RGD:155883158
NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211
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MMP12
matrix metallopeptidase 12
no_association
ISO
RGD
PMID:11546917
RGD:1582365
NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679
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MMP14
matrix metallopeptidase 14
ISO
RGD
PMID:9724118
RGD:1582590
NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928
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MMP2
matrix metallopeptidase 2
susceptibility
ISO
mRNA:increased expression:blood vessel
RGD
PMID:9724118 PMID:16961137 PMID:17569872
RGD:1582590 RGD:1582646 RGD:2290352
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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MMP9
matrix metallopeptidase 9
treatment susceptibility
ISO
protein:increased expression:artery mRNA:increased expression:blood vessel mRNA, protein:increased expression:artery associated with Diabetes Mellitus, Experimental
RGD
PMID:9310982 PMID:16961137 PMID:17122420 PMID:17569872 PMID:21937941 PMID:23844137 PMID:32602008 More...
RGD:13204853 RGD:13204858 RGD:155882593 RGD:1582646 RGD:1642055 RGD:2290352 RGD:8547935
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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MYOCD
myocardin
ameliorates
ISO
RGD
PMID:25868147
RGD:401793751
NCBI chr12:56,931,628...57,029,258
Ensembl chr12:56,931,317...57,029,258
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NCBP1
nuclear cap binding protein subunit 1
ISO
ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial
ClinVar
PMID:25741868
NCBI chr 1:239,492,573...239,543,925
Ensembl chr 1:239,492,721...239,535,825
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NCF1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19381132
NCBI chr 3:11,820,367...11,834,394
Ensembl chr 3:11,820,266...11,839,354
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NOS1
nitric oxide synthase 1
ISO
RGD
PMID:21321533
RGD:5131897
NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944
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NOS3
nitric oxide synthase 3
ISO
RGD
PMID:21321533
RGD:5131897
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
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PKD1
polycystin 1, transient receptor potential channel interacting
susceptibility
ISO
DNA:mutations:multiple (human)
RGD
PMID:12842373
RGD:1580867
NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455
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PKD2
polycystin 2, transient receptor potential cation channel
susceptibility
ISO
DNA:mutations:multiple (human)
RGD
PMID:12842373
RGD:1580867
NCBI chr 8:131,002,973...131,058,932
Ensembl chr 8:131,005,407...131,058,932
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PLAU
plasminogen activator, urokinase
ISO
RGD
PMID:21786025
RGD:6483795
NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
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SOX17
SRY-box transcription factor 17
susceptibility no_association
ISO
protein:decreased expression:middle cerebral artery (human) DNA:SNP:enhancer: (rs10958409) (human) DNA:SNP:enhancer: (rs1072737) (human)
RGD
PMID:18997786 PMID:20364137 PMID:22961961 PMID:25596186 PMID:29191544 PMID:31040677 PMID:31250579 More...
RGD:329853324 RGD:329853325 RGD:329853736 RGD:329955463 RGD:329955465 RGD:329955568 RGD:329955569
NCBI chr 4:76,854,218...76,857,143
Ensembl chr 4:76,854,150...76,857,148
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SYCP1
synaptonemal complex protein 1
ISO
ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:105,592,354...105,730,413
Ensembl chr 4:105,591,743...105,730,398
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TIMP1
TIMP metallopeptidase inhibitor 1
ISO
RGD
PMID:17569872
RGD:2290352
NCBI chr X:42,103,251...42,106,289
Ensembl chr X:42,102,172...42,106,296
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TIMP2
TIMP metallopeptidase inhibitor 2
ISO
mRNA:increased expression:blood vessel
RGD
PMID:17569872
RGD:2290352
NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,834
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TNF
tumor necrosis factor
treatment
ISO
RGD
PMID:24628611
RGD:10450592
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
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VCAN
versican
ISO
DNA:SNP: :rs173686 (human)
RGD
PMID:16917090
RGD:1598495
NCBI chr 2:91,682,177...91,811,674
Ensembl chr 2:91,384,391...91,811,208
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VEGFA
vascular endothelial growth factor A
ISO
mRNA,protein:increased expression:artery
RGD
PMID:32602008
RGD:155882593
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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VWF
von Willebrand factor
ISO
protein:increased expression:serum, artery
RGD
PMID:32602008
RGD:155882593
NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,517,555...64,655,938
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ZNF782
zinc finger protein 782
ISO
ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial
ClinVar
PMID:25741868
NCBI chr10:25,283,962...25,341,650
Ensembl chr10:25,283,987...25,341,575
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THSD1
thrombospondin type 1 domain containing 1
ISO
ClinVar Annotator: match by term: Aneurysm, intracranial berry, 12
OMIM ClinVar
PMID:25741868 PMID:27895300
NCBI chr11:15,668,435...15,698,031
Ensembl chr11:15,668,813...15,697,872
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ITM2B
integral membrane protein 2B
ISO
ClinVar Annotator: match by term: Presenile dementia with spastic ataxia
OMIM ClinVar
PMID:10391242 PMID:21610757 PMID:25741868 PMID:28492532 PMID:31719132
NCBI chr11:19,349,088...19,377,931
Ensembl chr11:19,349,134...19,377,917
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ITM2B
integral membrane protein 2B
ISO
ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
OMIM ClinVar
PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132
NCBI chr11:19,349,088...19,377,931
Ensembl chr11:19,349,134...19,377,917
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ABCC8
ATP binding cassette subfamily C member 8
treatment
ISO
RGD
PMID:23149556 PMID:24602692
RGD:12790979 RGD:12791996
NCBI chr 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620
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ACE
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
treatment
ISO
RGD
PMID:24471927
RGD:11039026
NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
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ACE2
angiotensin converting enzyme 2
ISO
mRNA, protein:increased expression:brain
RGD
PMID:24090950
RGD:9685436
NCBI chr X:12,099,849...12,152,204
Ensembl chr X:12,093,242...12,151,286
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ACVR1
activin A receptor type 1
ISO
RGD
PMID:33345977
RGD:329845521
NCBI chr15:64,749,478...64,891,653
Ensembl chr15:64,750,796...64,891,544
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ACVR2B
activin A receptor type 2B
ISO
mRNA:increased expression:brain (mouse)
RGD
PMID:33763412
RGD:329849104
NCBI chr13:23,237,699...23,276,086
Ensembl chr13:23,237,699...23,267,373
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ADORA1
adenosine A1 receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23437309
NCBI chr 9:113,835,279...113,875,899
Ensembl chr 9:113,835,921...113,872,365
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AGER
advanced glycosylation end-product specific receptor
ISO
CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Experimental
CTD RGD
PMID:24211797 PMID:25446913
RGD:8696008
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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AGT
angiotensinogen
ISO
protein:increased expression:brain, serum
RGD
PMID:24090950
RGD:9685436
NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
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AIFM1
apoptosis inducing factor mitochondria associated 1
ISO
protein:altered localization: :
RGD
PMID:15181376
RGD:10047403
NCBI chr X:106,676,596...106,708,290
Ensembl chr X:106,670,520...106,708,317
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AK1
adenylate kinase 1
ISO
protein:decreased expression:cerebral cortex (rat)
RGD
PMID:16468349
RGD:5508760
NCBI chr 1:268,355,032...268,365,659
Ensembl chr 1:268,355,033...268,365,598
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ALB
albumin
treatment
ISO
RGD
PMID:22227456
RGD:11036100
NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696
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ALOX5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19309543
NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,019...90,907,090
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AP2B1
adaptor related protein complex 2 subunit beta 1
ISO
protein:increased degradation:brain
RGD
PMID:19240038
RGD:13461853
NCBI chr12:39,803,105...39,940,801
Ensembl chr12:39,800,972...39,932,643
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APAF1
apoptotic peptidase activating factor 1
treatment
ISO
RGD
PMID:24012531
RGD:13703113
NCBI chr 5:85,166,616...85,258,751
Ensembl chr 5:85,166,628...85,258,364
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APOE
apolipoprotein E
ISO
RGD
PMID:19623195
RGD:6903926
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
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APP
amyloid beta precursor protein
treatment
ISO
RGD
PMID:28963051
RGD:13782054
NCBI chr13:189,434,854...189,716,120
Ensembl chr13:189,435,094...189,716,056
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AQP4
aquaporin 4
treatment
ISO
RGD
PMID:20815926 PMID:33127515
RGD:155646130 RGD:8695955
NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
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ARC
activity regulated cytoskeleton associated protein
ISO
RGD
PMID:22645329
RGD:10395314
NCBI chr 4:1,517,986...1,521,403
Ensembl chr 4:1,518,180...1,519,370
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ATF3
activating transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 9:130,772,259...130,829,678
Ensembl chr 9:130,772,262...130,785,506
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BAD
BCL2 associated agonist of cell death
treatment
ISO
RGD
PMID:21891976 PMID:22200499
RGD:10053665 RGD:10053704
NCBI chr 2:7,831,192...7,842,864
Ensembl chr 2:7,830,920...7,842,863
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BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:23143152
RGD:10054501
NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,147
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BCAN
brevican
ISO
RGD
PMID:15869933
RGD:9590118
NCBI chr 4:93,432,331...93,450,895
Ensembl chr 4:93,432,330...93,450,831
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BCL2
BCL2 apoptosis regulator
treatment
ISO
RGD
PMID:23143152
RGD:10054501
NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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BDNF
brain derived neurotrophic factor
treatment
ISO
RGD
PMID:20417695 PMID:28202057 PMID:35218623
RGD:401960864 RGD:405878057 RGD:4891138
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
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BECN1
beclin 1
treatment
ISO
RGD
PMID:22108007
RGD:11561900
NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
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BNIP3
BCL2 interacting protein 3
ISO
protein:increased expression:brain
RGD
PMID:17379825
RGD:9685412
NCBI chr14:140,362,123...140,371,951
Ensembl chr14:140,362,127...140,371,907
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BNIP3L
BCL2 interacting protein 3 like
ISO
RGD
PMID:15902200 PMID:21029239
RGD:2314138 RGD:9068917
NCBI chr14:10,318,688...10,345,689
Ensembl chr14:10,318,732...10,345,679
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C1QTNF6
C1q and TNF related 6
ameliorates
ISO
RGD
PMID:35322553
RGD:242905190
NCBI chr 5:10,601,869...10,606,886
Ensembl chr 5:10,601,762...10,608,777
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C3
complement C3
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:22103620 PMID:23199288
RGD:7175514
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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CALCB
calcitonin-related polypeptide beta
treatment
ISO
RGD
PMID:30531687
RGD:329849008
NCBI chr 2:44,043,135...44,048,651
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CAMK2A
calcium/calmodulin dependent protein kinase II alpha
ISO
RGD
PMID:14688616
RGD:1358416
NCBI chr 2:151,248,356...151,353,907
Ensembl chr 2:151,248,358...151,308,706
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CASP3
caspase 3
treatment
ISO
RGD
PMID:21891976 PMID:23143152 PMID:26868427
RGD:10053704 RGD:10054501 RGD:13782346
NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213
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CASP6
caspase 6
ISO
RGD
PMID:26868427
RGD:13782346
NCBI chr 8:112,519,450...112,534,315
Ensembl chr 8:112,520,629...112,537,045
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CASP9
caspase 9
treatment
ISO
RGD
PMID:26868427
RGD:13782346
NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,516...74,730,007
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CCL2
chemokine (C-C motif) ligand 2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:12374626 PMID:23043544 PMID:25257527
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CD36
CD36 molecule
treatment
ISO
RGD
PMID:25216018
RGD:11041113
NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
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CD86
CD86 molecule
ISO
protein:increased expression:brain subventricular zone, microglial cell (rat)
RGD
PMID:19053043
RGD:2313025
NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
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CDK5
cyclin dependent kinase 5
ISO
RGD
PMID:24920629
RGD:13782375
NCBI chr18:6,166,914...6,171,157
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CLDN5
claudin 5
treatment
ISO
RGD
PMID:24842554
RGD:13204729
NCBI chr14:51,161,490...51,162,382
Ensembl chr14:51,161,042...51,163,482
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CREB1
cAMP responsive element binding protein 1
treatment
ISO
RGD
PMID:35218623
RGD:401960864
NCBI chr15:110,705,548...110,773,037
Ensembl chr15:110,705,496...110,771,728
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CRH
corticotropin releasing hormone
ISO
protein:decreased expression:median eminence of hypothalamus (rat)
RGD
PMID:21741032
RGD:5490538
NCBI chr 4:68,481,696...68,486,122
Ensembl chr 4:68,484,053...68,486,121
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CRP
C-reactive protein, pentraxin-related
ISO
RGD
PMID:15545914
RGD:9585995
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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CRTC1
CREB regulated transcription coactivator 1
treatment
ISO
RGD
PMID:20417695
RGD:4891138
NCBI chr 2:59,069,334...59,157,196
Ensembl chr 2:59,069,335...59,157,176
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CSF3
colony stimulating factor 3
treatment
ISO
mRNA, protein:increased expression:brain:
RGD
PMID:15530654 PMID:19298757
RGD:11039420 RGD:11039425
NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753
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CXCL10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:10825390
RGD:632989
NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
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CXCL2
chemokine (C-X-C motif) ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 8:70,157,253...70,159,145
Ensembl chr 8:70,157,214...70,159,138
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CXCR2
C-X-C motif chemokine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr15:120,219,657...120,230,203
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CXCR3
C-X-C motif chemokine receptor 3
ISO
mRNA:increased expression:cerebral cortex
RGD
PMID:10825390
RGD:632989
NCBI chr X:57,592,032...57,595,706
Ensembl chr X:57,592,038...57,595,692
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CYP2E1
cytochrome P450 family 2 subfamily E member 1
ISO
RGD
PMID:23002367
RGD:14700877
NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817
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DICER1
dicer 1, ribonuclease III
ISO
mRNA:decreased expression:brain:
RGD
PMID:26294080
RGD:11553310
NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224
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DNMT1
DNA methyltransferase 1
ISO
RGD
PMID:11726790
RGD:9588643
NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
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DNMT3A
DNA methyltransferase 3 alpha
ISO
RGD
PMID:23516428
RGD:9589049
NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087
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DYNLL1
dynein light chain LC8-type 1
ISO
RGD
PMID:9522364
RGD:13208524
NCBI chr14:40,455,954...40,458,352
Ensembl chr14:40,455,985...40,459,104
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EDN1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17197033
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
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EGR1
early growth response 1
ISO
RGD
PMID:22645329
RGD:10395314
NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
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EGR2
early growth response 2
ISO
RGD
PMID:22645329
RGD:10395314
NCBI chr14:66,280,665...66,291,308
Ensembl chr14:66,284,581...66,291,299
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EGR4
early growth response 4
ISO
RGD
PMID:22645329
RGD:10395314
NCBI chr 3:69,485,919...69,488,788
Ensembl chr 3:69,485,949...69,488,975
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EIF2S1
eukaryotic translation initiation factor 2 subunit alpha
treatment
ISO
RGD
PMID:19763736 PMID:23669639
RGD:10395346 RGD:10755569
NCBI chr 7:91,085,025...91,109,835
Ensembl chr 7:91,085,335...91,109,827
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ELANE
elastase, neutrophil expressed
treatment
ISO
RGD
PMID:10700596
RGD:10450546
NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027
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ENG
endoglin
ISO
RGD
PMID:24876084
RGD:11041171
NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783
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EPCAM
epithelial cell adhesion molecule
ISO
RGD
PMID:15950761
RGD:11038820
NCBI chr 3:93,169,800...93,185,221
Ensembl chr 3:93,168,852...93,185,653
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EPHB2
EPH receptor B2
treatment
ISO
mRNA,protein:increased expression: cortex, cerebral cortex subventricular zone
RGD
PMID:16321245
RGD:1642069
NCBI chr 6:80,649,098...80,849,979
Ensembl chr 6:80,650,740...80,843,567
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EPN1
epsin 1
ISO
protein:increased degradation:brain
RGD
PMID:19240038
RGD:13461853
NCBI chr 6:59,789,952...59,802,302
Ensembl chr 6:59,789,946...59,802,299
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EPO
erythropoietin
treatment
ISO
RGD
PMID:20547143 PMID:20833153
RGD:10400898 RGD:10401066
NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
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ERCC6
ERCC excision repair 6, chromatin remodeling factor
ISO
RGD
PMID:9974119
RGD:10401103
NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898
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F11
coagulation factor XI
ISO
RGD
PMID:16533887
RGD:11041786
NCBI chr17:9,045,990...9,073,552
Ensembl chr17:9,046,002...9,073,520
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F12
coagulation factor XII
treatment
ISO
RGD
PMID:16533887
RGD:11041786
NCBI chr 2:80,527,451...80,544,835
Ensembl chr 2:80,527,446...80,544,828
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F2
coagulation factor II, thrombin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29651748
NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
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FADD
Fas associated via death domain
treatment
ISO
RGD
PMID:18950622 PMID:23378241
RGD:11341807 RGD:11344885
NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,185,675...3,194,818
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FGF2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:30531687
RGD:329849008
NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
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FGF21
fibroblast growth factor 21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr 6:54,082,653...54,084,532
Ensembl chr 6:54,080,739...54,084,601
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554
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GABRA6
gamma-aminobutyric acid type A receptor subunit alpha6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr16:61,855,698...61,872,503
Ensembl chr16:61,855,468...61,872,279
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GAP43
growth associated protein 43
treatment
ISO
RGD
PMID:30531687
RGD:329849008
NCBI chr13:144,364,314...144,458,136
Ensembl chr13:144,364,317...144,629,174
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GAPDH
glyceraldehyde-3-phosphate dehydrogenase
ISO
RGD
PMID:25882840
RGD:13792686
NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991
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GCH1
GTP cyclohydrolase 1
treatment
ISO
RGD
PMID:24956890
RGD:401717568
NCBI chr 1:184,201,232...184,264,060
Ensembl chr 1:184,199,679...184,257,315
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GDNF
glial cell derived neurotrophic factor
treatment
ISO
RGD
PMID:20468049 PMID:21347705 PMID:28202057 PMID:29497380
RGD:405866359 RGD:405866363 RGD:405878057 RGD:40925919
NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536
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GHRL
ghrelin and obestatin prepropeptide
treatment
ISO
RGD
PMID:19352052
RGD:9850083
NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,445,992...66,452,917
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GHSR
growth hormone secretagogue receptor
ISO
RGD
PMID:19352052
RGD:9850083
NCBI chr13:110,981,465...111,006,149
Ensembl chr13:110,983,298...111,038,324
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GLUL
glutamate-ammonia ligase
treatment
ISO
protein:increased expression:eye protein:increased expression:cerebrum, astrocyte
RGD
PMID:23595285 PMID:24518488 PMID:26024074 PMID:26093193
RGD:401794420 RGD:401794586 RGD:401794587 RGD:401794592
NCBI chr 9:123,751,551...123,762,575
Ensembl chr 9:123,748,380...123,762,545
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GRIN1
glutamate ionotropic receptor NMDA type subunit 1
treatment
ISO
RGD
PMID:26674869
RGD:11068571
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GRN
granulin precursor
treatment
ISO
RGD
PMID:23972823
RGD:10401661
NCBI chr12:18,893,772...18,900,444
Ensembl chr12:18,893,770...18,900,446
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GRPEL1
GrpE like 1, mitochondrial
ISO
mRNA:increased expression:cerebral cortex
RGD
PMID:12505684
RGD:632868
NCBI chr 8:3,797,310...3,813,725
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GSK3B
glycogen synthase kinase 3 beta
treatment
ISO
RGD
PMID:28440874
RGD:13792734
NCBI chr13:140,136,109...140,370,197
Ensembl chr13:140,136,158...140,369,569
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GSN
gelsolin
ameliorates
ISO
RGD
PMID:9927495 PMID:18234195
RGD:329333031 RGD:329333033
NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848
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HAMP
hepcidin antimicrobial peptide
ISO
mRNA, protein:increased expression:cerebral cortex, hippocampus, corpus striatum
RGD
PMID:21957487
RGD:11041635
NCBI chr 6:44,785,863...44,787,303
Ensembl chr 6:44,784,160...44,787,305
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HDAC2
histone deacetylase 2
exacerbates
ISO
RGD
PMID:32239566
RGD:155883173
NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
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HDAC4
histone deacetylase 4
treatment
ISO
mRNA,protein:decreased expression:brain:
RGD
PMID:23480850
RGD:9681449
NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301
G
HDAC5
histone deacetylase 5
treatment
ISO
mRNA,protein:decreased expression:brain:
RGD
PMID:23480850
RGD:9681449
NCBI chr12:19,077,910...19,119,463
Ensembl chr12:19,078,005...19,121,154
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HDAC9
histone deacetylase 9
ISO
mRNA:increased expression:brain:
RGD
PMID:23480850
RGD:9681449
NCBI chr 9:87,164,400...88,192,803
Ensembl chr 9:87,449,359...88,186,961
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HIF1A
hypoxia inducible factor 1 subunit alpha
treatment
ISO
RGD
PMID:21029239
RGD:9068917
NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
G
HMGB1
high mobility group box 1
treatment
ISO
RGD
PMID:23480850
RGD:9681449
NCBI chr11:7,195,556...7,321,071
G
HMOX1
heme oxygenase 1
treatment
ISO
RGD
PMID:20888632 PMID:23870531 PMID:24252362
RGD:10755587 RGD:10755588 RGD:10755755
G
HP
haptoglobin
ISO
RGD
PMID:22103620
RGD:7175514
NCBI chr 6:14,980,382...14,985,245
G
HSPA4
heat shock protein family A (Hsp70) member 4
ISO
rat gene in mouse model
RGD
PMID:17473852 PMID:21709150
RGD:5688754 RGD:6218961
NCBI chr 2:135,345,724...135,391,112
Ensembl chr 2:135,345,867...135,391,108
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HSPD1
heat shock protein family D (Hsp60) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526
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HTRA2
HtrA serine peptidase 2
ISO
protein:increased expression:brain, cytosol (rat) protein:increased expression:brain, cytosol (mouse)
RGD
PMID:15306124 PMID:16978742
RGD:2314385 RGD:5688372
NCBI chr 3:68,516,666...68,520,025
Ensembl chr 3:68,516,500...68,519,886
G
HVCN1
hydrogen voltage gated channel 1
ISO
RGD
PMID:31250553
RGD:14985213
NCBI chr14:32,006,837...32,044,165
Ensembl chr14:31,989,170...32,043,744
G
ICAM1
intercellular adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IGF1
insulin like growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
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IKBKB
inhibitor of nuclear factor kappa B kinase subunit beta
treatment
ISO
RGD
PMID:16286924
RGD:10045955
NCBI chr17:11,289,607...11,348,557
Ensembl chr17:11,289,690...11,348,549
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IL10
interleukin 10
ameliorates
ISO
RGD
PMID:28630232
RGD:242905192
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL11
interleukin 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr 6:59,540,482...59,544,909
Ensembl chr 6:59,541,213...59,544,896
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IL13
interleukin 13
ISO
protein:increased expression:cerebral cortex
RGD
PMID:23028794
RGD:7204480
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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IL1RN
interleukin 1 receptor antagonist
treatment
ISO
human gene in a rat model
RGD
PMID:7790404
RGD:8551708
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IL22
interleukin 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr 5:32,599,522...32,604,507
Ensembl chr 5:32,599,471...32,604,513
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IL4
interleukin 4
ISO
protein:increased expression:cerebral cortex
RGD
PMID:23028794
RGD:7204480
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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IL5
interleukin 5
ISO
RGD
PMID:23028794
RGD:7204480
NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
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IL6
interleukin 6
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12374626 PMID:21940958 PMID:25257527 PMID:29498696
RGD:13792833
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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IL6R
interleukin 6 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21940958
NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282
G
IL6ST
interleukin 6 cytokine family signal transducer
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21940958
NCBI chr16:35,101,304...35,151,832
Ensembl chr16:35,101,306...35,192,220
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IL7R
interleukin 7 receptor
ISO
protein:increased expression:brain:
RGD
PMID:30676545
RGD:151347693
NCBI chr16:21,300,141...21,330,156
Ensembl chr16:21,300,111...21,329,585
G
INA
internexin neuronal intermediate filament protein alpha
ISO
RGD
PMID:29967576
RGD:27226878
NCBI chr14:114,227,998...114,240,566
Ensembl chr14:114,227,993...114,240,558
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INHBA
inhibin subunit beta A
ISO
RGD
PMID:33345977
RGD:329845521
NCBI chr12:53,115,379...53,117,128 NCBI chr18:52,889,684...52,909,260
Ensembl chr18:52,889,684...52,900,967
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IRF4
interferon regulatory factor 4
ISO
RGD
PMID:25652434
RGD:11530061
NCBI chr 7:133,358...149,609
Ensembl chr 7:133,371...149,609
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JUNB
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 2:66,214,086...66,219,435
Ensembl chr 2:66,214,138...66,217,002
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KCNN4
potassium calcium-activated channel subfamily N member 4
ameliorates
ISO
RGD
PMID:21750563 PMID:25477223 PMID:26661208
RGD:329955444 RGD:329955572 RGD:401700383
NCBI chr 6:50,580,016...50,593,518
Ensembl chr 6:50,580,022...50,593,544
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LIG3
DNA ligase 3
ISO
associated with transient cerebral ischemia;protein:increased expression:brain
RGD
PMID:17412650
RGD:2302580
NCBI chr12:40,153,105...40,205,077
Ensembl chr12:40,153,397...40,183,622
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LOC110258578
interleukin-1 beta-like
treatment ameliorates
ISO
protein:increased expression:cerebral cortex (rat) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:23028794 PMID:24916922 PMID:25257527 PMID:29498696 PMID:35322553
RGD:10450594 RGD:13792833 RGD:242905190 RGD:7204480
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MAG
myelin associated glycoprotein
treatment
ISO
RGD
PMID:15678116
RGD:9685232
NCBI chr 6:44,794,197...44,809,933
Ensembl chr 6:44,794,204...44,809,926
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MAPK1
mitogen-activated protein kinase 1
treatment
ISO
RGD
PMID:27152455 PMID:35218623
RGD:13800881 RGD:401960864
NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
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MAPK3
mitogen-activated protein kinase 3
treatment
ISO
RGD
PMID:27152455 PMID:35218623
RGD:13800881 RGD:401960864
NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
G
MAPT
microtubule associated protein tau
treatment
ISO
RGD
PMID:25903928 PMID:28886009
RGD:13800886 RGD:13800913
NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,373
G
MIR107
microRNA mir-107
ISO
RNA:increased expression:brain
RGD
PMID:26294080
RGD:11553310
NCBI chr14:101,420,743...101,420,829
Ensembl chr14:101,420,743...101,420,829
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MIR132
microRNA mir-132
treatment
ISO
mRNA:decreased expression:brain (mouse)
RGD
PMID:33763412
RGD:329849104
NCBI chr12:48,162,625...48,162,702
Ensembl chr12:48,162,614...48,162,714
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MIR140
microRNA mir-140
ameliorates
ISO
miRNA:decreased expression:cerebral cortex (rat)
RGD
PMID:27035554 PMID:33246036
RGD:329337375 RGD:329337377
NCBI chr 6:17,077,530...17,077,599
Ensembl chr 6:17,077,507...17,077,620
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MIR19A
microRNA mir-19a
ISO
RNA:decreased expression:brain (mouse)
RGD
PMID:32335212
RGD:156451661
NCBI chr11:60,734,939...60,735,020
Ensembl chr11:60,734,939...60,735,020
G
MIR29B-1
microRNA mir-29b-1
exacerbates
ISO
RGD
PMID:35322553
RGD:242905190
NCBI chr18:18,039,629...18,039,709
Ensembl chr18:18,039,629...18,039,709
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MMP9
matrix metallopeptidase 9
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19309543 PMID:24842554
RGD:13204729
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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MT3
metallothionein 3
ISO
protein:decreased expression:brain
RGD
PMID:8869568
RGD:9685807
NCBI chr 6:18,634,735...18,636,134
Ensembl chr 6:18,634,261...18,636,131
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MTOR
mechanistic target of rapamycin kinase
treatment
ISO
RGD
PMID:21185267 PMID:23777415 PMID:24583056
RGD:10040971 RGD:10040974 RGD:10041016
NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
G
NAE1
NEDD8 activating enzyme E1 subunit 1
ISO
RGD
PMID:21386696
RGD:13801046
NCBI chr 6:27,511,541...27,540,142
Ensembl chr 6:27,511,466...27,540,118
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NAMPT
nicotinamide phosphoribosyltransferase
treatment
ISO
RGD
PMID:28495827
RGD:13781880
NCBI chr 9:106,119,896...106,162,126
Ensembl chr 9:106,119,899...106,294,586
G
NCAM1
neural cell adhesion molecule 1
treatment
ISO
RGD
PMID:29497380 PMID:32962079
RGD:40924633 RGD:40925919
NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,631...40,960,591
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NEFH
neurofilament heavy chain
ISO
RGD
PMID:29967576
RGD:27226878
NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088
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NEFL
neurofilament light chain
ISO
protein:increased expression:brain
RGD
PMID:29967576
RGD:27226878
NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
G
NEFM
neurofilament medium chain
ISO
protein:altered expression:brain
RGD
PMID:29967576
RGD:27226878
NCBI chr14:8,955,346...8,967,211
G
NFE2L2
NFE2 like bZIP transcription factor 2
treatment
ISO
RGD
PMID:23880501 PMID:24466583
RGD:10412696 RGD:10412714
NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
G
NFKBIA
NFKB inhibitor alpha
treatment
ISO
RGD
PMID:21122797
RGD:10413868
NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
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NGF
nerve growth factor
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:10408807 PMID:29409115
RGD:402463967
NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,749...105,307,837
G
NGFR
nerve growth factor receptor
treatment
ISO
RGD
PMID:22678884
RGD:10413900
NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,356
G
NOD2
nucleotide binding oligomerization domain containing 2
treatment
ISO
RGD
PMID:24842554
RGD:13204729
NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
G
NOS2
nitric oxide synthase 2
ISO
mRNA:increased expression:brain (mouse) protein:increased expression:brain (rat)
RGD
PMID:21959178 PMID:22020035
RGD:5508751 RGD:5509037
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
G
NOX1
NADPH oxidase 1
treatment
ISO
RGD
PMID:30816157
RGD:329955567
NCBI chr X:82,540,664...82,575,811
Ensembl chr X:82,540,667...82,586,532
G
NQO1
NAD(P)H quinone dehydrogenase 1
treatment
ISO
protein:increased expression:brain
RGD
PMID:21120604 PMID:25069640
RGD:11035212 RGD:5133239
NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590
G
NRG1
neuregulin 1
treatment ameliorates
ISO
RGD
PMID:20691195 PMID:30206770
RGD:10449015 RGD:405650589
NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,630,679...52,839,505
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OGG1
8-oxoguanine DNA glycosylase
treatment
ISO
associated with Hypertension
RGD
PMID:17920569
RGD:8657395
NCBI chr13:66,038,669...66,045,478
G
PARK7
Parkinsonism associated deglycase
treatment
ISO
RGD
PMID:17882163
RGD:13463450
NCBI chr 6:68,629,327...68,645,147
Ensembl chr 6:68,629,214...68,645,516
G
PARP1
poly(ADP-ribose) polymerase 1
treatment
ISO
RGD
PMID:21311064 PMID:23143152 PMID:23801245 PMID:25882840
RGD:10054501 RGD:11073732 RGD:13792686 RGD:5683909
NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196
G
PAWR
pro-apoptotic WT1 regulator
treatment
ISO
protein:increased expression:brain:
RGD
PMID:11323519 PMID:16403464 PMID:19352052
RGD:9835380 RGD:9835381 RGD:9850083
NCBI chr 5:101,693,145...101,797,842
Ensembl chr 5:101,693,246...101,797,838
G
PDGFRA
platelet derived growth factor receptor alpha
treatment
ISO
RGD
PMID:16917016
RGD:11084934
NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441
G
PDGFRB
platelet derived growth factor receptor beta
treatment
ISO
RGD
PMID:16917016
RGD:11084934
NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647
G
PLAT
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
RGD CTD
PMID:12297567 PMID:14512838 PMID:17690543 PMID:18453163 PMID:20547619 PMID:29651748 More...
RGD:1580876
NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
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PLAU
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11677890 PMID:15181847 PMID:17702958
NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
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PLD1
phospholipase D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr13:110,152,268...110,376,319
Ensembl chr13:110,154,874...110,376,294
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POLB
DNA polymerase beta
ISO
associated with transient cerebral ischemia;protein:increased expression:brain
RGD
PMID:17412650
RGD:2302580
NCBI chr17:11,356,130...11,388,122
Ensembl chr17:11,356,129...11,388,821
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PRKCG
protein kinase C gamma
ISO
RGD
PMID:14688616
RGD:1358416
NCBI chr 6:56,213,479...56,235,683
Ensembl chr 6:56,213,480...56,234,210
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PROC
protein C, inactivator of coagulation factors Va and VIIIa
treatment
ISO
RGD
PMID:24159062
RGD:11100027
NCBI chr15:25,043,543...25,054,310
Ensembl chr15:25,043,545...25,056,595
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PTPRZ1
protein tyrosine phosphatase receptor type Z1
ISO
mRNA:increased expression:cerebral cortex
RGD
PMID:15869933
RGD:9590118
NCBI chr18:25,046,027...25,228,276
Ensembl chr18:25,045,742...25,168,053
G
RBFOX3
RNA binding fox-1 homolog 3
treatment
ISO
RGD
PMID:30531687
RGD:329849008
NCBI chr12:3,116,769...3,138,846
Ensembl chr12:3,116,773...3,138,840
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RELN
reelin
severity
ISO
RGD
PMID:16438965
RGD:13207538
NCBI chr 9:103,460,855...103,963,728
Ensembl chr 9:103,460,863...103,963,883
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RGMA
repulsive guidance molecule BMP co-receptor a
treatment
ISO
RGD
PMID:21840379 PMID:23275173
RGD:9850121 RGD:9850122
NCBI chr 7:85,921,524...85,968,887
Ensembl chr 7:85,921,594...85,968,888
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RPL28
ribosomal protein L28
ISO
RGD
PMID:16805800
RGD:6480229
NCBI chr 6:59,556,586...59,559,337
Ensembl chr 6:59,556,687...59,562,147
G
RUNX1
RUNX family transcription factor 1
ISO
mRNA:increased expression:brain
RGD
PMID:24672479
RGD:11251714
NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189
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S100A5
S100 calcium binding protein A5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr 4:96,093,204...96,096,870
Ensembl chr 4:96,094,147...96,096,870
G
S100B
S100 calcium binding protein B
ISO
protein:increased expression:cerebrum, astrocyte
RGD
PMID:23595285
RGD:401794586
G
SERPINE1
serpin family E member 1
ISO
RGD
PMID:14512838
RGD:1580876
NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
G
SERPINF1
serpin family F member 1
treatment
ISO
RGD
PMID:22714093
RGD:8655545
NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470
G
SERPINH1
serpin family H member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 9:9,782,939...9,794,485
Ensembl chr 9:9,783,042...9,794,483
G
SHAS2
hyaluronan synthase 2
ISO
mRNA:increased expression:brain
RGD
PMID:11283406
RGD:9588631
NCBI chr 4:17,583,154...17,613,524
Ensembl chr 4:17,596,492...17,615,480
G
SHH
sonic hedgehog signaling molecule
treatment
ISO
RGD
PMID:22324418
RGD:12879461
NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484
G
SIRT1
sirtuin 1
treatment
ISO
RGD
PMID:23600725
RGD:9585664
NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,167...71,123,297
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SLC12A2
solute carrier family 12 member 2
treatment
ISO
protein:increased expression:brain:
RGD
PMID:12535773 PMID:27798271
RGD:14398833 RGD:1580583
NCBI chr 2:131,016,430...131,109,307
Ensembl chr 2:131,016,418...131,109,299
G
SLC1A2
solute carrier family 1 member 2
treatment
ISO
RGD
PMID:20423712
RGD:401794585
NCBI chr 2:25,603,892...25,771,840
Ensembl chr 2:25,604,950...25,848,276
G
SLC9A1
solute carrier family 9 member A1
treatment
ISO
RGD
PMID:31250553
RGD:14985213
NCBI chr 6:84,373,921...84,426,447
Ensembl chr 6:84,372,649...84,426,997
G
SLPI
secretory leukocyte peptidase inhibitor
treatment
ISO
RGD
PMID:14500739
RGD:9999390
NCBI chr17:47,595,804...47,598,364
Ensembl chr17:47,595,803...47,598,387
G
SMO
smoothened, frizzled class receptor
treatment
ISO
RGD
PMID:23499832 PMID:23696546
RGD:12832759 RGD:12879404
NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898
G
SMOX
spermine oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30576531
NCBI chr17:31,552,927...31,592,007
Ensembl chr17:31,548,636...31,591,975
G
SNAP91
synaptosome associated protein 91
ISO
protein:increased degradation:brain
RGD
PMID:19240038
RGD:13461853
NCBI chr 1:82,540,998...82,698,652
Ensembl chr 1:82,541,018...82,698,633
G
SOD1
superoxide dismutase 1
treatment
ISO
mRNA, protein:increased expression:cerebral cortex (rat)
RGD
PMID:22001340 PMID:22133807
RGD:8657021 RGD:8657023
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
G
SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21940958
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
G
SPHK2
sphingosine kinase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23043544
NCBI chr 6:53,982,911...53,986,779
Ensembl chr 6:53,979,012...53,986,768
G
STAT3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21940958
NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
G
TGFB1
transforming growth factor beta 1
ameliorates
ISO
RGD
PMID:28630232 PMID:31409163
RGD:14995477 RGD:242905192
NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
G
TH
tyrosine hydroxylase
ISO
protein:decreased expression:substantia nigra pars compacta, neuron (rat)
RGD
PMID:21366664
RGD:5128609
NCBI chr 2:1,499,628...1,506,180
Ensembl chr 2:1,499,620...1,506,170
G
TNF
tumor necrosis factor
ameliorates treatment
ISO
RGD
PMID:15647744 PMID:24916922 PMID:28630232 PMID:29498696 PMID:35322553
RGD:10450594 RGD:13792833 RGD:13825261 RGD:242905190 RGD:242905192
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
G
TNFAIP6
TNF alpha induced protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr15:862,013...881,352
Ensembl chr15:862,015...881,461
G
TNFRSF1A
TNF receptor superfamily member 1A
ISO
RGD
PMID:15647744
RGD:13825261
NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
G
TREM1
triggering receptor expressed on myeloid cells 1
ameliorates
ISO
RGD
PMID:32736673
RGD:127284860
NCBI chr 7:36,510,253...36,531,796
Ensembl chr 7:36,510,253...36,531,796
G
UPP1
uridine phosphorylase 1
ISO
mRNA, protein:increased expression:brain (rat)
RGD
PMID:18457515
RGD:2317094
NCBI chr18:48,418,385...48,440,414
Ensembl chr18:48,418,385...48,440,736
G
VEGFA
vascular endothelial growth factor A
treatment
ISO
mRNA,protein:increased expression:cerebral cortex (rat)
RGD
PMID:27035554 PMID:29497380 PMID:30531687
RGD:329337377 RGD:329849008 RGD:40925919
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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XDH
xanthine dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169
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XRCC1
X-ray repair cross complementing 1
ISO
associated with transient cerebral ischemia;protein:increased expression:brain
RGD
PMID:17412650
RGD:2302580
NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729
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ACTA2
actin alpha 2, smooth muscle
ISO
ClinVar Annotator: match by term: Moyamoya disease | ClinVar Annotator: match by term: Moyamoya syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713
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FAS
Fas cell surface death receptor
ISO
ClinVar Annotator: match by term: Moyamoya disease
ClinVar
PMID:25741868
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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PHACTR1
phosphatase and actin regulator 1
disease_progression
ISO
DNA:missense mutation:CDS:c.13185159G>T (p.V265L) (human)
RGD
PMID:32411507
RGD:401900691
NCBI chr 7:9,105,422...9,666,886
Ensembl chr 7:9,105,874...9,666,881
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TIMP2
TIMP metallopeptidase inhibitor 2
ISO
RGD
PMID:16723886
RGD:1580650
NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,834
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GUCY1A1
guanylate cyclase 1 soluble subunit alpha 1
ISO
ClinVar Annotator: match by term: MYMY1
ClinVar
PMID:26777256
NCBI chr 8:44,448,758...44,520,737
Ensembl chr 8:44,449,290...44,518,135
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ENG
endoglin
ISO
ClinVar Annotator: match by term: Moyamoya disease 2
ClinVar
PMID:25741868
NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783
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ACTA2
actin alpha 2, smooth muscle
ISO
ClinVar Annotator: match by term: Moyamoya disease 5
OMIM ClinVar
PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 PMID:15138499 PMID:15472996 PMID:17576681 PMID:17994018 PMID:19409525 PMID:20734336 PMID:20970362 PMID:21248741 PMID:21288906 PMID:22302747 PMID:22543189 PMID:22752479 PMID:22753406 PMID:22790431 PMID:22831780 PMID:22946110 PMID:23099432 PMID:23142374 PMID:23253043 PMID:23613326 PMID:24033266 PMID:24293535 PMID:24621862 PMID:24998021 PMID:25326635 PMID:25644172 PMID:25741868 PMID:25759435 PMID:25944730 PMID:26034244 PMID:26153420 PMID:26637293 PMID:27176728 PMID:27481187 PMID:27549731 PMID:27551047 PMID:27611364 PMID:28492532 PMID:28652363 PMID:28659821 PMID:29300374 PMID:30341550 PMID:31911919 PMID:32464348 PMID:33513575 PMID:36053285 PMID:36440024 PMID:37042257 More...
NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713
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GUCY1A1
guanylate cyclase 1 soluble subunit alpha 1
ISO
ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia
OMIM ClinVar
PMID:24581742 PMID:25741868 PMID:26777256 PMID:28492532
NCBI chr 8:44,448,758...44,520,737
Ensembl chr 8:44,449,290...44,518,135
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ANO1
anoctamin 1
ISO
ClinVar Annotator: match by term: Moyamoya disease 7
OMIM ClinVar
PMID:37253099
NCBI chr 2:3,202,269...3,373,409
Ensembl chr 2:3,202,166...3,373,411
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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 chr13:189,435,094...189,716,056
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BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:18938189
RGD:10054050
NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,147
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BCL2
BCL2 apoptosis regulator
treatment
ISO
RGD
PMID:18938189
RGD:10054050
NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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G6PD
glucose-6-phosphate dehydrogenase
treatment
ISO
RGD
PMID:21279683
RGD:10449132
NCBI chr X:125,029,147...125,041,040
Ensembl chr X:125,029,150...125,041,040
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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
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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:28985224 PMID:29455155 PMID:29692703 PMID:30114415 PMID:32087291 PMID:32917274 PMID:33268848 PMID:33601107 PMID:35861376 PMID:38137339 More...
NCBI chr13:189,434,854...189,716,120
Ensembl chr13:189,435,094...189,716,056
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ATP5F1A
ATP synthase F1 subunit alpha
ISO
RGD
PMID:24448401
RGD:14696801
NCBI chr 1:95,738,789...95,750,835
Ensembl chr 1:95,733,090...95,750,841
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ATRIP
ATR interacting protein
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:17660818 PMID:21270825 PMID:23881107 PMID:23979357 PMID:25741868 PMID:28492532 PMID:35307828 PMID:36586737 More...
NCBI chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,178,715
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AVP
vasopressin
ISO
protein:decreased expression:brain
RGD
PMID:18925713
RGD:2303174
NCBI chr17:32,581,234...32,583,145
Ensembl chr17:32,581,234...32,583,185
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BDNF
brain derived neurotrophic factor
treatment
ISO
RGD
PMID:24622829
RGD:10059369
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
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C1R
complement C1r
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:25741868 PMID:33268848 PMID:35307828
NCBI chr 5:63,644,097...63,655,149
Ensembl chr 5:63,643,374...63,655,143
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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 chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
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CCM2
CCM2 scaffold protein
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:28492532 PMID:33268848 PMID:35307828
NCBI chr18:50,396,423...50,450,442
Ensembl chr18:50,396,424...50,450,132
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CDK5
cyclin dependent kinase 5
treatment
ISO
RGD
PMID:27118553
RGD:13792766
NCBI chr18:6,166,914...6,171,157
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CHMP2B
charged multivesicular body protein 2B
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr13:168,534,950...168,569,574
Ensembl chr13:168,533,694...168,569,688
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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 chr11:76,858,332...76,997,409
Ensembl chr11:76,858,356...76,997,322
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COL4A2
collagen type IV alpha 2 chain
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:33268848
NCBI chr11:76,996,885...77,161,617
Ensembl chr11:76,997,516...77,161,614
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COLGALT1
collagen beta(1-O)galactosyltransferase 1
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 2:60,138,303...60,166,751
Ensembl chr 2:60,138,306...60,162,632
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CREB1
cAMP responsive element binding protein 1
treatment
ISO
RGD
PMID:27923588
RGD:401960869
NCBI chr15:110,705,548...110,773,037
Ensembl chr15:110,705,496...110,771,728
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DIAPH1
diaphanous related formin 1
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:28492532 PMID:35307828
NCBI chr 2:143,158,691...143,271,110
Ensembl chr 2:143,158,585...143,271,147
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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 chr13:73,573,887...73,707,951
Ensembl chr13:73,573,926...73,707,948
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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...121,464,471
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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
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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...48,106,724
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FLT1
fms related receptor tyrosine kinase 1
treatment
ISO
RGD
PMID:22500404
RGD:10402076
NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264
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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 4:123,371,198...123,390,130
Ensembl chr 4:123,371,193...123,390,131
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GPX1
glutathione peroxidase 1
treatment
ISO
RGD
PMID:24968700
RGD:11352822
NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433
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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
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 3:32,749,329...33,149,350
Ensembl chr 3:32,750,700...33,143,499
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 5:58,480,528...58,927,558
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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...140,369,569
G
HTRA1
HtrA serine peptidase 1
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:24500651 PMID:25741868 PMID:32042911 PMID:33268848 PMID:35307828 PMID:35606766 More...
NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,041,934...132,103,595
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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 chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
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IGF1R
insulin like growth factor 1 receptor
ISO
RGD
PMID:16983186
RGD:10045873
NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058
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ITM2B
integral membrane protein 2B
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:33268848
NCBI chr11:19,349,088...19,377,931
Ensembl chr11:19,349,134...19,377,917
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KRIT1
KRIT1 ankyrin repeat containing
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:33268848
NCBI chr 9:72,143,652...72,184,774
Ensembl chr 9:72,142,835...72,185,661
G
LOC110258578
interleukin-1 beta-like
ISO
protein:increased expression:plasma
RGD
PMID:16600299
RGD:1626633
G
MAPK1
mitogen-activated protein kinase 1
treatment
ISO
RGD
PMID:24070657
RGD:405096669
NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
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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...17,211,373
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MIR143
microRNA mir-143
treatment exacerbates
ISO
RGD
PMID:36459592
RGD:155882588
NCBI chr 2:150,578,738...150,578,817
Ensembl chr 2:150,578,738...150,578,817
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MMP2
matrix metallopeptidase 2
ISO
RGD
PMID:16385583
RGD:1582624
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
G
MTHFR
methylenetetrahydrofolate reductase
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
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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
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NEFL
neurofilament light chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:29391125
RGD:127285384
NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
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NMNAT2
nicotinamide nucleotide adenylyltransferase 2
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 9:124,495,464...124,697,911
Ensembl chr 9:124,498,109...124,696,194
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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 chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
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NOX1
NADPH oxidase 1
treatment
ISO
RGD
PMID:24294978
RGD:329955573
NCBI chr X:82,540,664...82,575,811
Ensembl chr X:82,540,667...82,586,532
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NPPA
natriuretic peptide A
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:25741868 PMID:28492532 PMID:33268848
NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,918,845...71,921,405
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PCNT
pericentrin
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
G
PDE9A
phosphodiesterase 9A
treatment
ISO
RGD
PMID:30916555
RGD:242905183
NCBI chr13:205,938,342...206,034,981
Ensembl chr13:205,938,348...206,034,976
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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 chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
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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
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PRNP
prion protein
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr17:13,694,195...13,705,126
Ensembl chr17:13,694,190...13,705,124
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PSEN2
presenilin 2
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:26522186 PMID:33268848
NCBI chr10:14,532,556...14,561,862
Ensembl chr10:14,532,767...14,577,251
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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...31,661,190
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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
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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
Ensembl chr 6:45,375,288...45,377,965
G
SLC20A2
solute carrier family 20 member 2
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr17:11,435,435...11,549,623
Ensembl chr17:11,435,442...11,486,581
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SMAD4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:28492532 PMID:35307828
NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029
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SNCA
synuclein alpha
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 8:129,247,724...129,388,307
Ensembl chr 8:129,248,819...129,271,128
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SNCG
synuclein gamma
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:18577885
RGD:6478792
NCBI chr14:87,916,353...87,922,111
Ensembl chr14:87,904,659...87,922,095
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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 5:6,719,484...6,784,724
Ensembl chr 5:6,719,490...6,784,671
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SST
somatostatin
ISO
protein:decreased expression:brain
RGD
PMID:18925713
RGD:2303174
NCBI chr13:125,337,560...125,338,742
Ensembl chr13:125,337,418...125,338,850
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THSD1
thrombospondin type 1 domain containing 1
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr11:15,668,435...15,698,031
Ensembl chr11:15,668,813...15,697,872
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TMEM106B
transmembrane protein 106B
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:33268848
NCBI chr 9:81,837,654...81,864,215
Ensembl chr 9:81,837,667...81,864,210
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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 7:23,699,628...23,702,415
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TP53
tumor protein p53
ISO
protein:increased expression:brain
RGD
PMID:18083315
RGD:2290557
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
G
TREX1
three prime repair exonuclease 1
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:17660818 PMID:21270825 PMID:23881107 PMID:23979357 PMID:25741868 PMID:28492532 PMID:35307828 PMID:36586737 More...
NCBI chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747
G
TSC2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:25741868 PMID:28492532 PMID:35307828
NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371
G
UBQLN2
ubiquilin 2
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr X:48,948,062...48,951,392
Ensembl chr X:48,948,389...48,950,263
G
VPS13A
vacuolar protein sorting 13 homolog A
ISO
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:35307828
NCBI chr 1:230,069,339...230,331,343
Ensembl chr 1:230,069,368...230,331,200
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CLDN14
claudin 14
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106
NCBI chr13:200,121,796...200,201,712
Ensembl chr13:200,128,477...200,145,525
G
EPHB4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783
G
KAT6A
lysine acetyltransferase 6A
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr17:11,002,818...11,109,974
G
KEL
Kell metallo-endopeptidase
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr18:7,242,378...7,279,345
Ensembl chr18:7,259,144...7,279,328
G
KMT2D
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:28492532 PMID:30578106
NCBI chr 5:15,049,827...15,091,622
G
SMARCA2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all