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: cerebral arterial disease
Accession: DOID:3527
browse the term
Definition: Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY.
Synonyms: exact_synonym: Cerebral Artery Disease; Cerebral Artery Diseases; cerebral arterial diseases
primary_id: MESH:D002539
alt_id: RDO:0005162
xref: EFO:1000859
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 chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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App
amyloid beta precursor protein
ISO
CTD Direct Evidence: marker/mechanism 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
CTD ClinVar OMIM
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 chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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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 chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
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Htra1
HtrA serine peptidase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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Notch3
notch receptor 3
ISO
CTD Direct Evidence: marker/mechanism 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
CTD 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 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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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 chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
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Notch3
notch receptor 3
ISO ISS
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:125310
OMIM ClinVar MouseDO
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 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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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 chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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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 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
G
Aoc3
amine oxidase, copper containing 3
ISO
associated with Alzheimer Disease;protein:increased expression:brain
RGD
PMID:17393059
RGD:2313919
NCBI chr10:86,272,757...86,280,702
G
Apoa1
apolipoprotein A1
ISO
RGD
PMID:20739292
RGD:5508213
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apoe
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11061249
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
App
amyloid beta precursor protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21520056
NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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Aqp4
aquaporin 4
ISO
RGD
PMID:21107133
RGD:5148012
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
G
Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:14595653
RGD:5688166
NCBI chr 8:123,556,286...123,561,841
G
Itm2b
integral membrane protein 2B
ISS
MouseDO
NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
G
Mme
membrane metallo-endopeptidase
severity
ISO
associated with Alzheimer Disease;protein:decreased expression:frontal lobe cortex (human)
RGD
PMID:17021406 PMID:21382117
RGD:1600811 , RGD:13801026
NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
G
Olr1
oxidized low density lipoprotein receptor 1
ISO
RGD
PMID:16328515
RGD:1580993
NCBI chr 4:162,926,436...162,949,057
Ensembl chr 4:162,926,439...162,948,523
G
Psen1
presenilin 1
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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Ephb2
Eph receptor B2
ameliorates
ISO
RGD
PMID:18639535
RGD:127285624
NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
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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 chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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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 chr18:27,885,071...27,905,509
Ensembl chr18:27,884,556...27,905,513
G
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 chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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Cst3
cystatin C
ISO
ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2363674 PMID:2567273 PMID:2900981 PMID:8108423 PMID:11815350 PMID:18566660 PMID:25741868 PMID:25893795 PMID:28492532 PMID:33116287 More...
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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Ace
angiotensin I converting enzyme
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Ager
advanced glycosylation end product-specific receptor
IEP
associated with Diabetes Mellitus, Experimental
RGD
PMID:23844137
RGD:8547935
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Aoc3
amine oxidase, copper containing 3
IEP
protein:decreased expression:cerebral artery
RGD
PMID:18312104
RGD:2313912
NCBI chr10:86,272,757...86,280,702
G
Bcl2
BCL2, apoptosis regulator
treatment
ISO
RGD
PMID:25316629
RGD:11522723
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Ccdc180
coiled-coil domain containing 180
ISO
ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial
ClinVar
PMID:25741868
NCBI chr 5:60,154,883...60,223,508
Ensembl chr 5:60,154,910...60,223,522
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Ccl2
C-C motif chemokine ligand 2
IMP IEP
mRNA:increased expression:circle of Willis (rat)
RGD
PMID:19164781 PMID:25316629
RGD:2307000 , RGD:11522723
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccn1
cellular communication network factor 1
disease_progression
IEP
protein:increased expression:common carotid artery plus branches (Rat)
RGD
PMID:33885814
RGD:329812012
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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Col1a2
collagen type I alpha 2 chain
ISO
RGD
PMID:14739420
RGD:1581199
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
G
Col22a1
collagen type XXII alpha 1 chain
susceptibility
ISO
DNA:SNPs:cds:multiple(human)
RGD
PMID:30541770
RGD:13831344
NCBI chr 7:103,730,939...103,968,452
Ensembl chr 7:103,731,037...103,968,462
G
Cst3
cystatin C
IEP
mRNA:decreased expression:brain, artery
RGD
PMID:18635848
RGD:2306495
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
G
Ctsb
cathepsin B
ISO IEP
protein:increased expression:cerebral aneurysm (human) mRNA, protein:increased expression, increased activity:Circle of Willis (rat)
RGD
PMID:18635848 PMID:18635848
RGD:2306495 , RGD:2306495
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
G
Ctsk
cathepsin K
IEP
mRNA:increased expression:brain, artery
RGD
PMID:18635848
RGD:2306495
NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
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Ctss
cathepsin S
IEP
mRNA:increased expression:brain, artery
RGD
PMID:18635848
RGD:2306495
NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483
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Edn1
endothelin 1
ISO
protein:increased expression:serum
RGD
PMID:32602008
RGD:155882593
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Eln
elastin
ISO
RGD
PMID:15218274
RGD:1580328
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Eng
endoglin
ISO
DNA:missense mutation:exon 2:c.179-180CC>AA, p.A60E
RGD
PMID:19299629
RGD:329845530
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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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 chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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Il6
interleukin 6
ISO
RGD
PMID:16648144
RGD:1580488
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Klf5
KLF transcription factor 5
ISO
protein:increased expression:artery
RGD
PMID:30201338
RGD:155883158
NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
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Kmt2d
lysine methyltransferase 2D
susceptibility
ISO
DNA:SNP: :rs3782356(human)
RGD
PMID:30121816
RGD:155582216
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Mir143
microRNA 143
ISO
RNA:decreased expression:artery RNA:decreased expression:serum
RGD
PMID:32602008 PMID:30201338
RGD:155882593 , RGD:155883158
NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
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Mir145
microRNA 145
ISO
RNA:decreased expression:serum
RGD
PMID:30201338
RGD:155883158
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Mmp12
matrix metallopeptidase 12
no_association
ISO
RGD
PMID:11546917
RGD:1582365
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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Mmp14
matrix metallopeptidase 14
ISO
RGD
PMID:9724118
RGD:1582590
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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Mmp2
matrix metallopeptidase 2
susceptibility
IEP ISO
mRNA:increased expression:blood vessel
RGD
PMID:17569872 PMID:16961137 PMID:9724118
RGD:2290352 , RGD:1582646 , RGD:1582590
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
treatment susceptibility
IEP ISO IDA
mRNA:increased expression:blood vessel protein:increased expression:artery associated with Diabetes Mellitus, Experimental mRNA, protein:increased expression:artery
RGD
PMID:17569872 PMID:32602008 PMID:21937941 PMID:9310982 PMID:23844137 PMID:17122420 PMID:16961137 More...
RGD:2290352 , RGD:155882593 , RGD:13204858 , RGD:13204853 , RGD:8547935 , RGD:1642055 , RGD:1582646
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Myocd
myocardin
ameliorates
ISO
RGD
PMID:25868147
RGD:401793751
NCBI chr10:49,833,219...49,928,806
Ensembl chr10:49,836,641...49,927,627
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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 5:60,416,023...60,449,004
Ensembl chr 5:60,415,982...60,449,089
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Ncf1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19381132
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
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Nos1
nitric oxide synthase 1
ISO
RGD
PMID:21321533
RGD:5131897
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Nos3
nitric oxide synthase 3
IEP ISO
RGD
PMID:21321533 PMID:21321533
RGD:5131897 , RGD:5131897
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Pkd1
polycystin 1, transient receptor potential channel interacting
susceptibility
ISO
DNA:mutations:multiple (human)
RGD
PMID:12842373
RGD:1580867
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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Pkd2
polycystin 2, transient receptor potential cation channel
susceptibility
ISO
DNA:mutations:multiple (human)
RGD
PMID:12842373
RGD:1580867
NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
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Plau
plasminogen activator, urokinase
ISO
RGD
PMID:21786025
RGD:6483795
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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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:25596186 PMID:18997786 PMID:31250579 PMID:20364137 PMID:31040677 PMID:22961961 PMID:29191544 More...
RGD:329853324 , RGD:329955569 , RGD:329955568 , RGD:329955465 , RGD:329955463 , RGD:329853736 , RGD:329853325
NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228
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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 2:190,296,688...190,456,687
Ensembl chr 2:190,296,954...190,456,737
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Timp1
TIMP metallopeptidase inhibitor 1
IEP
RGD
PMID:17569872
RGD:2290352
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Timp2
TIMP metallopeptidase inhibitor 2
IEP
mRNA:increased expression:blood vessel
RGD
PMID:17569872
RGD:2290352
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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Tnf
tumor necrosis factor
treatment
IMP
RGD
PMID:24628611
RGD:10450592
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vcan
versican
ISO
DNA:SNP: :rs173686 (human)
RGD
PMID:16917090
RGD:1598495
NCBI chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637
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Vegfa
vascular endothelial growth factor A
ISO
mRNA,protein:increased expression:artery
RGD
PMID:32602008
RGD:155882593
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vwf
von Willebrand factor
ISO
protein:increased expression:serum, artery
RGD
PMID:32602008
RGD:155882593
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Zfp658
zinc finger protein 658
ISO
ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial
ClinVar
PMID:25741868
NCBI chr 1:93,992,467...94,005,689
Ensembl chr 1:93,992,469...94,005,687
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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 chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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Itm2b
integral membrane protein 2B
ISO
ClinVar Annotator: match by term: Presenile dementia with spastic ataxia
ClinVar OMIM RGD
PMID:10391242 PMID:21610757 PMID:25741868 PMID:28492532 PMID:31719132 PMID:11159188 More...
RGD:1358403
NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
G
Itm2b
integral membrane protein 2B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
OMIM CTD ClinVar
PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132
NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
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Abcc8
ATP binding cassette subfamily C member 8
treatment
IMP
RGD
PMID:23149556 PMID:24602692
RGD:12790979 , RGD:12791996
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Ace
angiotensin I converting enzyme
treatment
IMP
RGD
PMID:24471927
RGD:11039026
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ace2
angiotensin converting enzyme 2
IEP
mRNA, protein:increased expression:brain
RGD
PMID:24090950
RGD:9685436
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Acvr1
activin A receptor type 1
ISO
RGD
PMID:33345977
RGD:329845521
NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241
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Acvr2b
activin A receptor type 2B
ISO
mRNA:increased expression:brain (mouse)
RGD
PMID:33763412
RGD:329849104
NCBI chr 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
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Adora1
adenosine A1 receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23437309
NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
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Ager
advanced glycosylation end product-specific receptor
IEP ISO
associated with Diabetes Mellitus, Experimental CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25446913 PMID:24211797
RGD:8696008
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agt
angiotensinogen
IEP
protein:increased expression:brain, serum
RGD
PMID:24090950
RGD:9685436
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Aifm1
apoptosis inducing factor, mitochondria associated 1
IEP
protein:altered localization: :
RGD
PMID:15181376
RGD:10047403
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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Ak1
adenylate kinase 1
IEP
protein:decreased expression:cerebral cortex (rat)
RGD
PMID:16468349
RGD:5508760
NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
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Alb
albumin
treatment
ISO
RGD
PMID:22227456
RGD:11036100
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Alox5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19309543
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Ap2b1
adaptor related protein complex 2 subunit beta 1
IEP
protein:increased degradation:brain
RGD
PMID:19240038
RGD:13461853
NCBI chr10:68,099,397...68,205,023
Ensembl chr10:68,099,547...68,205,013
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Apaf1
apoptotic peptidase activating factor 1
treatment
IEP
RGD
PMID:24012531
RGD:13703113
NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540
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Apoe
apolipoprotein E
IDA
RGD
PMID:19623195
RGD:6903926
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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App
amyloid beta precursor protein
treatment
IEP
RGD
PMID:28963051
RGD:13782054
NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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Aqp4
aquaporin 4
treatment
IEP IMP
RGD
PMID:20815926 PMID:33127515
RGD:8695955 , RGD:155646130
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Arc
activity-regulated cytoskeleton-associated protein
IEP
RGD
PMID:22645329
RGD:10395314
NCBI chr 7:106,555,968...106,559,697
Ensembl chr 7:106,555,785...106,559,378
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Atf3
activating transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr13:102,751,278...102,800,520
Ensembl chr13:102,751,321...102,764,631
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Bad
BCL2-associated agonist of cell death
treatment
IDA
RGD
PMID:22200499 PMID:21891976
RGD:10053665 , RGD:10053704
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
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Bax
BCL2 associated X, apoptosis regulator
treatment
IEP
RGD
PMID:23143152
RGD:10054501
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bcan
brevican
IEP
RGD
PMID:15869933
RGD:9590118
NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
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Bcl2
BCL2, apoptosis regulator
treatment
IEP
RGD
PMID:23143152
RGD:10054501
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bdnf
brain-derived neurotrophic factor
treatment
IEP
RGD
PMID:20417695 PMID:28202057 PMID:35218623
RGD:4891138 , RGD:405878057 , RGD:401960864
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Becn1
beclin 1
treatment
IMP
RGD
PMID:22108007
RGD:11561900
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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Bnip3
BCL2 interacting protein 3
IEP
protein:increased expression:brain
RGD
PMID:17379825
RGD:9685412
NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
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Bnip3l
BCL2 interacting protein 3 like
IEP
RGD
PMID:15902200 PMID:21029239
RGD:2314138 , RGD:9068917
NCBI chr15:41,174,594...41,197,730
Ensembl chr15:41,174,594...41,197,803
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C1qtnf6
C1q and TNF related 6
ameliorates
IEP
RGD
PMID:35322553
RGD:242905190
NCBI chr 7:110,077,867...110,084,584
Ensembl chr 7:110,077,878...110,084,412
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C3
complement C3
IEP ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23199288 PMID:22103620
RGD:7175514
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Calca
calcitonin-related polypeptide alpha
treatment
IEP
RGD
PMID:30531687
RGD:329849008
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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Camk2a
calcium/calmodulin-dependent protein kinase II alpha
IEP
RGD
PMID:14688616
RGD:1358416
NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994
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Casp3
caspase 3
treatment
IDA IEP
RGD
PMID:21891976 PMID:26868427 PMID:23143152
RGD:10053704 , RGD:13782346 , RGD:10054501
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp6
caspase 6
IEP
RGD
PMID:26868427
RGD:13782346
NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502
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Casp9
caspase 9
treatment
IEP
RGD
PMID:26868427
RGD:13782346
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:12374626 PMID:23043544 PMID:25257527
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl7
C-C motif chemokine ligand 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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Cd36
CD36 molecule
treatment
ISO
RGD
PMID:25216018
RGD:11041113
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cd86
CD86 molecule
IEP
protein:increased expression:brain subventricular zone, microglial cell (rat)
RGD
PMID:19053043
RGD:2313025
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cdk5
cyclin-dependent kinase 5
ISO
RGD
PMID:24920629
RGD:13782375
NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112
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Cldn5
claudin 5
treatment
IEP
RGD
PMID:24842554
RGD:13204729
NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
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Creb1
cAMP responsive element binding protein 1
treatment
IDA
RGD
PMID:35218623
RGD:401960864
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Crh
corticotropin releasing hormone
IEP
protein:decreased expression:median eminence of hypothalamus (rat)
RGD
PMID:21741032
RGD:5490538
NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
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Crp
C-reactive protein
ISO
RGD
PMID:15545914
RGD:9585995
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Crtc1
CREB regulated transcription coactivator 1
treatment
IEP
RGD
PMID:20417695
RGD:4891138
NCBI chr16:18,988,197...19,046,914
Ensembl chr16:18,988,250...19,043,381
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Csf3
colony stimulating factor 3
treatment
ISO IEP
mRNA, protein:increased expression:brain:
RGD
PMID:19298757 PMID:15530654
RGD:11039420 , RGD:11039425
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:10825390
RGD:632989
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl2
C-X-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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Cxcr3
C-X-C motif chemokine receptor 3
IEP
mRNA:increased expression:cerebral cortex
RGD
PMID:10825390
RGD:632989
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
IEP
RGD
PMID:23002367
RGD:14700877
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Dicer1
dicer 1 ribonuclease III
IEP
mRNA:decreased expression:brain:
RGD
PMID:26294080
RGD:11553310
NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
G
Dnmt1
DNA methyltransferase 1
ISO
RGD
PMID:11726790
RGD:9588643
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Dnmt3a
DNA methyltransferase 3 alpha
IMP
RGD
PMID:23516428
RGD:9589049
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
G
Dynll1
dynein light chain LC8-type 1
IEP
RGD
PMID:9522364
RGD:13208524
NCBI chr12:41,312,365...41,316,157
Ensembl chr12:41,312,367...41,314,741
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Edn1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17197033
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
G
Egr1
early growth response 1
IEP
RGD
PMID:22645329
RGD:10395314
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
G
Egr2
early growth response 2
IEP
RGD
PMID:22645329
RGD:10395314
NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562
G
Egr4
early growth response 4
IEP
RGD
PMID:22645329
RGD:10395314
NCBI chr 4:118,047,869...118,050,328
Ensembl chr 4:118,047,869...118,050,328
G
Eif2s1
eukaryotic translation initiation factor 2 subunit alpha
treatment
IDA IMP
RGD
PMID:23669639 PMID:19763736
RGD:10395346 , RGD:10755569
NCBI chr 6:97,672,829...97,697,499
Ensembl chr 6:97,672,766...97,706,225
G
Elane
elastase, neutrophil expressed
treatment
IMP
RGD
PMID:10700596
RGD:10450546
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
G
Eng
endoglin
ISO
RGD
PMID:24876084
RGD:11041171
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
G
Epcam
epithelial cell adhesion molecule
IEP
RGD
PMID:15950761
RGD:11038820
NCBI chr 6:6,880,142...6,896,103
Ensembl chr 6:6,878,237...6,896,127
G
Ephb2
Eph receptor B2
treatment
IEP ISO
mRNA,protein:increased expression: cortex, cerebral cortex subventricular zone
RGD
PMID:16321245 PMID:16321245
RGD:1642069 , RGD:1642069
NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
G
Epn1
Epsin 1
IEP
protein:increased degradation:brain
RGD
PMID:19240038
RGD:13461853
NCBI chr 1:68,742,491...68,760,570
Ensembl chr 1:68,742,789...68,758,874
G
Epo
erythropoietin
treatment
ISO
RGD
PMID:20833153 PMID:20547143
RGD:10400898 , RGD:10401066
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
G
Ercc6
ERCC excision repair 6, chromatin remodeling factor
IEP
RGD
PMID:9974119
RGD:10401103
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
G
F11
coagulation factor XI
ISO
RGD
PMID:16533887
RGD:11041786
NCBI chr16:46,987,988...47,009,015
Ensembl chr16:46,986,107...47,008,437
G
F12
coagulation factor XII
treatment
ISO
RGD
PMID:16533887 PMID:16533887
RGD:11041786 , RGD:11041786
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
G
F2
coagulation factor II, thrombin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29651748
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
Fadd
Fas associated via death domain
treatment
ISO IEP
RGD
PMID:18950622 PMID:23378241
RGD:11341807 , RGD:11344885
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
G
Fgf2
fibroblast growth factor 2
treatment
IEP
RGD
PMID:30531687
RGD:329849008
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
G
Fgf21
fibroblast growth factor 21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
G
Fos
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
G
Gabra6
gamma-aminobutyric acid type A receptor subunit alpha6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr10:26,810,411...26,825,768
Ensembl chr10:26,810,423...26,825,769
G
Gap43
growth associated protein 43
treatment
IEP
RGD
PMID:30531687
RGD:329849008
NCBI chr11:58,376,371...58,470,047
Ensembl chr11:58,376,371...58,470,045
G
Gapdh
glyceraldehyde-3-phosphate dehydrogenase
IDA
RGD
PMID:25882840
RGD:13792686
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
G
Gch1
GTP cyclohydrolase 1
treatment
IEP
RGD
PMID:24956890
RGD:401717568
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
G
Gdnf
glial cell derived neurotrophic factor
treatment
IMP IEP IDA
RGD
PMID:29497380 PMID:28202057 PMID:20468049 PMID:21347705
RGD:40925919 , RGD:405878057 , RGD:405866363 , RGD:405866359
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
G
Ghrl
ghrelin and obestatin prepropeptide
treatment
IDA
RGD
PMID:19352052
RGD:9850083
NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
G
Ghsr
growth hormone secretagogue receptor
IMP
RGD
PMID:19352052
RGD:9850083
NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
G
Glul
glutamate-ammonia ligase
treatment
IEP
protein:increased expression:eye protein:increased expression:cerebrum, astrocyte
RGD
PMID:24518488 PMID:23595285 PMID:26024074 PMID:26093193
RGD:401794420 , RGD:401794586 , RGD:401794592 , RGD:401794587
NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108
G
Grin1
glutamate ionotropic receptor NMDA type subunit 1
treatment
IEP
RGD
PMID:26674869
RGD:11068571
NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
G
Grn
granulin precursor
treatment
ISO
RGD
PMID:23972823
RGD:10401661
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
G
Grpel1
GrpE-like 1, mitochondrial
IEP
mRNA:increased expression:cerebral cortex
RGD
PMID:12505684
RGD:632868
NCBI chr14:74,292,023...74,298,243
Ensembl chr14:74,292,023...74,298,200
G
Gsk3b
glycogen synthase kinase 3 beta
treatment
IDA
RGD
PMID:28440874
RGD:13792734
NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
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Gsn
gelsolin
ameliorates
ISO
RGD
PMID:18234195 PMID:9927495
RGD:329333031 , RGD:329333033
NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
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H19
H19 imprinted maternally expressed transcript
ameliorates
IEP ISO IMP
RNA:increased expression:brain (rat) RNA:increased expression:brain (mouse)
RGD
PMID:28203482 PMID:28630232 PMID:35322553 PMID:31170091 PMID:32335212
RGD:155900760 , RGD:242905192 , RGD:242905190 , RGD:242905188 , RGD:156451661
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
G
Hamp
hepcidin antimicrobial peptide
IEP
mRNA, protein:increased expression:cerebral cortex, hippocampus, corpus striatum
RGD
PMID:21957487
RGD:11041635
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
G
Has2
hyaluronan synthase 2
IEP
mRNA:increased expression:brain
RGD
PMID:11283406
RGD:9588631
NCBI chr 7:88,113,326...88,139,337
Ensembl chr 7:88,113,326...88,128,933
G
Hdac2
histone deacetylase 2
exacerbates
ISO
RGD
PMID:32239566
RGD:155883173
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
G
Hdac4
histone deacetylase 4
treatment
IEP
mRNA,protein:decreased expression:brain:
RGD
PMID:23480850
RGD:9681449
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
G
Hdac5
histone deacetylase 5
treatment
IEP
mRNA,protein:decreased expression:brain:
RGD
PMID:23480850
RGD:9681449
NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235
G
Hdac9
histone deacetylase 9
IEP
mRNA:increased expression:brain:
RGD
PMID:23480850
RGD:9681449
NCBI chr 6:50,762,074...51,624,311
Ensembl chr 6:50,763,590...51,625,333
G
Hif1a
hypoxia inducible factor 1 subunit alpha
treatment
IDA
RGD
PMID:21029239
RGD:9068917
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
G
Hmgb1
high mobility group box 1
treatment
IEP
RGD
PMID:23480850
RGD:9681449
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
G
Hmox1
heme oxygenase 1
treatment
IEP IDA ISO
RGD
PMID:24252362 PMID:23870531 PMID:20888632
RGD:10755587 , RGD:10755755 , RGD:10755588
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hp
haptoglobin
IEP
RGD
PMID:22103620
RGD:7175514
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Hspa4
heat shock protein family A (Hsp70) member 4
IMP ISO
rat gene in mouse model
RGD
PMID:17473852 PMID:21709150
RGD:5688754 , RGD:6218961
NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001
G
Hspd1
heat shock protein family D (Hsp60) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
G
Htra2
HtrA serine peptidase 2
IEP ISO
protein:increased expression:brain, cytosol (rat) protein:increased expression:brain, cytosol (mouse)
RGD
PMID:16978742 PMID:15306124
RGD:2314385 , RGD:5688372
NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
G
Hvcn1
hydrogen voltage-gated channel 1
IMP
RGD
PMID:31250553
RGD:14985213
NCBI chr12:34,341,673...34,370,010
Ensembl chr12:34,335,190...34,370,141
G
Hvcn1em2Mcwi
hydrogen voltage-gated channel 1; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:31250553
RGD:14985213
G
Icam1
intercellular adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Igf1
insulin-like growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
G
Ikbkb
inhibitor of nuclear factor kappa B kinase subunit beta
treatment
ISO
RGD
PMID:16286924
RGD:10045955
NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
G
Il10
interleukin 10
ameliorates
ISO
RGD
PMID:28630232
RGD:242905192
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il11
interleukin 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr 1:69,069,829...69,076,129
Ensembl chr 1:69,068,137...69,076,129
G
Il13
interleukin 13
IEP
protein:increased expression:cerebral cortex
RGD
PMID:23028794
RGD:7204480
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
Il1b
interleukin 1 beta
ameliorates treatment
IEP ISO
protein:increased expression:cerebral cortex (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25257527 PMID:23028794 PMID:35322553 PMID:29498696 PMID:24916922
RGD:7204480 , RGD:242905190 , RGD:13792833 , RGD:10450594
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
treatment
ISO
human gene in a rat model
RGD
PMID:7790404
RGD:8551708
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il22
interleukin 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186
G
Il4
interleukin 4
IEP
protein:increased expression:cerebral cortex
RGD
PMID:23028794
RGD:7204480
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Il5
interleukin 5
IEP
RGD
PMID:23028794
RGD:7204480
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
G
Il6
interleukin 6
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12374626 PMID:21940958 PMID:25257527 PMID:29498696
RGD:13792833
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Il6r
interleukin 6 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21940958
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
G
Il6st
interleukin 6 cytokine family signal transducer
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21940958
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
G
Il7r
interleukin 7 receptor
IEP
protein:increased expression:brain:
RGD
PMID:30676545
RGD:151347693
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
G
Ina
internexin neuronal intermediate filament protein, alpha
ISO
RGD
PMID:29967576
RGD:27226878
NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330
G
Inhba
inhibin subunit beta A
ISO
RGD
PMID:33345977
RGD:329845521
NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
G
Irf4
interferon regulatory factor 4
IEP
RGD
PMID:25652434
RGD:11530061
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
G
Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
G
Kcnn4
potassium calcium-activated channel subfamily N member 4
ameliorates
ISO IMP
RGD
PMID:26661208 PMID:25477223 PMID:21750563
RGD:329955572 , RGD:401700383 , RGD:329955444
NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
G
Lig3
DNA ligase 3
IEP
associated with transient cerebral ischemia;protein:increased expression:brain
RGD
PMID:17412650
RGD:2302580
NCBI chr10:67,717,808...67,741,141
Ensembl chr10:67,717,812...67,798,414
G
Mag
myelin-associated glycoprotein
treatment
IMP
RGD
PMID:15678116
RGD:9685232
NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656
G
Mapk1
mitogen activated protein kinase 1
treatment
IDA
RGD
PMID:27152455 PMID:35218623
RGD:13800881 , RGD:401960864
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
G
Mapk3
mitogen activated protein kinase 3
treatment
IDA
RGD
PMID:27152455 PMID:35218623
RGD:13800881 , RGD:401960864
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
G
Mapt
microtubule-associated protein tau
treatment
IEP IDA ISO
RGD
PMID:28886009 PMID:25903928 PMID:28886009
RGD:13800886 , RGD:13800913 , RGD:13800886
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
G
Mir107
microRNA 107
IEP
RNA:increased expression:brain
RGD
PMID:26294080
RGD:11553310
NCBI chr 1:232,337,767...232,337,853
Ensembl chr 1:232,337,767...232,337,853
G
Mir132
microRNA 132
treatment
ISO
mRNA:decreased expression:brain (mouse)
RGD
PMID:33763412 PMID:33763412
RGD:329849104 , RGD:329849104
NCBI chr10:60,023,696...60,023,796
Ensembl chr10:60,023,696...60,023,796
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Mir140
microRNA 140
ameliorates
ISO IEP
miRNA:decreased expression:cerebral cortex (rat)
RGD
PMID:33246036 PMID:27035554
RGD:329337375 , RGD:329337377
NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
G
Mir19a
microRNA 19a
ISO
RNA:decreased expression:brain (mouse)
RGD
PMID:32335212
RGD:156451661
NCBI chr15:92,180,912...92,180,993
Ensembl chr15:92,180,912...92,180,993
G
Mir210
microRNA 210
treatment
IEP
RGD
PMID:34337881
RGD:155269103
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
G
Mir29b1
microRNA 29b-1
exacerbates
IMP
RGD
PMID:35322553
RGD:242905190
NCBI chr 4:59,650,987...59,651,067
Ensembl chr 4:59,650,986...59,651,067
G
Mir494
microRNA 494
ameliorates
ISO
RGD
PMID:32239566 PMID:31465536
RGD:155883173 , RGD:156430320
NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793
G
Mmp9
matrix metallopeptidase 9
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19309543 PMID:24842554
RGD:13204729
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Mt3
metallothionein 3
IEP
protein:decreased expression:brain
RGD
PMID:8869568
RGD:9685807
NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
G
Mtor
mechanistic target of rapamycin kinase
treatment
IEP IDA
RGD
PMID:24583056 PMID:21185267 PMID:23777415
RGD:10040971 , RGD:10041016 , RGD:10040974
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
G
Nae1
NEDD8 activating enzyme E1 subunit 1
IEP
RGD
PMID:21386696
RGD:13801046
NCBI chr19:446,015...472,145
Ensembl chr19:446,000...472,371
G
Nampt
nicotinamide phosphoribosyltransferase
treatment
IMP
RGD
PMID:28495827
RGD:13781880
NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
G
Ncam1
neural cell adhesion molecule 1
treatment
ISO IMP
RGD
PMID:32962079 PMID:29497380
RGD:40924633 , RGD:40925919
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
G
Nefh
neurofilament heavy chain
ISO
RGD
PMID:29967576
RGD:27226878
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
G
Nefl
neurofilament light chain
ISO
protein:increased expression:brain
RGD
PMID:29967576
RGD:27226878
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
G
Nefm
neurofilament medium chain
ISO
protein:altered expression:brain
RGD
PMID:29967576
RGD:27226878
NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755
G
Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
IDA
RGD
PMID:23880501 PMID:24466583
RGD:10412696 , RGD:10412714
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
G
Nfkbia
NFKB inhibitor alpha
treatment
IEP
RGD
PMID:21122797
RGD:10413868
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
G
Ngf
nerve growth factor
treatment
ISO IMP
CTD Direct Evidence: therapeutic
CTD RGD
PMID:10408807 PMID:29409115
RGD:402463967
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Ngfr
nerve growth factor receptor
treatment
IDA
RGD
PMID:22678884
RGD:10413900
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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Nod2
nucleotide-binding oligomerization domain containing 2
treatment
IEP
RGD
PMID:24842554
RGD:13204729
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Nos2
nitric oxide synthase 2
IEP ISO
protein:increased expression:brain (rat) mRNA:increased expression:brain (mouse)
RGD
PMID:21959178 PMID:22020035
RGD:5508751 , RGD:5509037
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nox1
NADPH oxidase 1
treatment
IEP
RGD
PMID:30816157
RGD:329955567
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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Nqo1
NAD(P)H quinone dehydrogenase 1
treatment
IEP
protein:increased expression:brain
RGD
PMID:21120604 PMID:25069640
RGD:5133239 , RGD:11035212
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Nrg1
neuregulin 1
treatment ameliorates
ISO
RGD
PMID:20691195 PMID:30206770
RGD:10449015 , RGD:405650589
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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Ogg1
8-oxoguanine DNA glycosylase
treatment
IEP
associated with Hypertension
RGD
PMID:17920569
RGD:8657395
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Park7
Parkinsonism associated deglycase
treatment
ISO
RGD
PMID:17882163
RGD:13463450
NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
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Parp1
poly (ADP-ribose) polymerase 1
treatment
ISO IEP IDA
RGD
PMID:21311064 PMID:23801245 PMID:23143152 PMID:25882840
RGD:5683909 , RGD:11073732 , RGD:10054501 , RGD:13792686
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Pawr
pro-apoptotic WT1 regulator
treatment
ISO IEP
protein:increased expression:brain:
RGD
PMID:16403464 PMID:19352052 PMID:11323519
RGD:9835380 , RGD:9850083 , RGD:9835381
NCBI chr 7:43,645,028...43,725,033
Ensembl chr 7:43,645,084...43,725,028
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Pdgfra
platelet derived growth factor receptor alpha
treatment
IDA
RGD
PMID:16917016
RGD:11084934
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Pdgfrb
platelet derived growth factor receptor beta
treatment
IDA
RGD
PMID:16917016
RGD:11084934
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Plat
plasminogen activator, tissue type
IEP ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:12297567 PMID:17690543 PMID:18453163 PMID:20547619 PMID:29651748 PMID:14512838 More...
RGD:1580876
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11677890 PMID:15181847 PMID:17702958
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Pld1
phospholipase D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 2:110,849,205...111,047,304
Ensembl chr 2:110,893,608...111,047,692
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Polb
DNA polymerase beta
IEP
associated with transient cerebral ischemia;protein:increased expression:brain
RGD
PMID:17412650
RGD:2302580
NCBI chr16:69,379,438...69,402,710
Ensembl chr16:69,379,400...69,404,812
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Prkcg
protein kinase C, gamma
ISO
RGD
PMID:14688616
RGD:1358416
NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
treatment
ISO
RGD
PMID:24159062
RGD:11100027
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Ptprz1
protein tyrosine phosphatase, receptor type Z1
IEP
mRNA:increased expression:cerebral cortex
RGD
PMID:15869933
RGD:9590118
NCBI chr 4:51,397,316...51,595,220
Ensembl chr 4:51,397,601...51,595,218
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Rbfox3
RNA binding fox-1 homolog 3
treatment
IEP
RGD
PMID:30531687
RGD:329849008
NCBI chr10:103,720,355...104,157,277
Ensembl chr10:103,720,636...104,156,935
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Reln
reelin
severity
ISO
RGD
PMID:16438965
RGD:13207538
NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
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Rgma
repulsive guidance molecule BMP co-receptor a
treatment
IEP IMP
RGD
PMID:21840379 PMID:23275173
RGD:9850121 , RGD:9850122
NCBI chr 1:127,128,934...127,172,918
Ensembl chr 1:127,128,934...127,172,918
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Rpl28
ribosomal protein L28
IEP
RGD
PMID:16805800
RGD:6480229
NCBI chr 1:69,052,148...69,054,735
Ensembl chr 1:69,053,203...69,055,032
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Runx1
RUNX family transcription factor 1
IAGP
mRNA:increased expression:brain
RGD
PMID:24672479
RGD:11251714
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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S100a5
S100 calcium binding protein A5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr 2:176,095,332...176,099,546
Ensembl chr 2:176,097,539...176,099,546
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S100b
S100 calcium binding protein B
IEP
protein:increased expression:cerebrum, astrocyte
RGD
PMID:23595285
RGD:401794586
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Serpine1
serpin family E member 1
IEP
RGD
PMID:14512838
RGD:1580876
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Serpinf1
serpin family F member 1
treatment
IDA
RGD
PMID:22714093
RGD:8655545
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Serpinh1
serpin family H member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801
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Shh
sonic hedgehog signaling molecule
treatment
ISO
RGD
PMID:22324418
RGD:12879461
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Sirt1
sirtuin 1
treatment
IMP ISO
RGD
PMID:23600725 PMID:23600725
RGD:9585664 , RGD:9585664
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Slc12a2
solute carrier family 12 member 2
treatment
IMP ISO
protein:increased expression:brain:
RGD
PMID:12535773 PMID:27798271
RGD:1580583 , RGD:14398833
NCBI chr18:51,348,282...51,416,448
Ensembl chr18:51,348,302...51,416,440
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Slc1a2
solute carrier family 1 member 2
treatment
IEP
RGD
PMID:20423712
RGD:401794585
NCBI chr 3:89,005,129...89,135,469
Ensembl chr 3:89,005,129...89,126,498
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Slc2a1
solute carrier family 2 member 1
treatment
IEP
RGD
PMID:9419067
RGD:12879855
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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Slc9a1
solute carrier family 9 member A1
treatment
IMP
RGD
PMID:31250553
RGD:14985213
NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
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Slpi
secretory leukocyte peptidase inhibitor
treatment
IEP
RGD
PMID:14500739
RGD:9999390
NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
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Smo
smoothened, frizzled class receptor
treatment
IMP
RGD
PMID:23696546 PMID:23499832
RGD:12832759 , RGD:12879404
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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Smox
spermine oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30576531
NCBI chr 3:118,731,814...118,767,242
Ensembl chr 3:118,731,900...118,765,710 Ensembl chr X:118,731,900...118,765,710
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Snap91
synaptosome associated protein 91
IEP
protein:increased degradation:brain
RGD
PMID:19240038
RGD:13461853
NCBI chr 8:87,738,056...87,852,690
Ensembl chr 8:87,738,824...87,852,367
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Sod1
superoxide dismutase 1
treatment
IDA IEP
mRNA, protein:increased expression:cerebral cortex (rat)
RGD
PMID:22001340 PMID:22133807
RGD:8657021 , RGD:8657023
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21940958
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sphk2
sphingosine kinase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23043544
NCBI chr 1:96,180,872...96,188,592
Ensembl chr 1:96,180,887...96,188,391
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21940958
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tgfb1
transforming growth factor, beta 1
ameliorates
IEP ISO
RGD
PMID:31409163 PMID:28630232
RGD:14995477 , RGD:242905192
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Th
tyrosine hydroxylase
IEP
protein:decreased expression:substantia nigra pars compacta, neuron (rat)
RGD
PMID:21366664
RGD:5128609
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
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Tnf
tumor necrosis factor
treatment ameliorates
IEP ISO IMP
RGD
PMID:24916922 PMID:28630232 PMID:35322553 PMID:15647744 PMID:29498696
RGD:10450594 , RGD:242905192 , RGD:242905190 , RGD:13825261 , RGD:13792833
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfaip6
TNF alpha induced protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
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Tnfrsf1a
TNF receptor superfamily member 1A
IMP
RGD
PMID:15647744
RGD:13825261
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Trem1
triggering receptor expressed on myeloid cells 1
ameliorates
IDA
RGD
PMID:32736673
RGD:127284860
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Upp1
uridine phosphorylase 1
IEP
mRNA, protein:increased expression:brain (rat)
RGD
PMID:18457515
RGD:2317094
NCBI chr14:83,809,495...83,829,299
Ensembl chr14:83,809,960...83,829,462
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Vegfa
vascular endothelial growth factor A
treatment
IMP IEP
mRNA,protein:increased expression:cerebral cortex (rat)
RGD
PMID:29497380 PMID:30531687 PMID:27035554
RGD:40925919 , RGD:329849008 , RGD:329337377
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Xdh
xanthine dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Xrcc1
X-ray repair cross complementing 1
IEP
associated with transient cerebral ischemia;protein:increased expression:brain
RGD
PMID:17412650
RGD:2302580
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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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 chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Fas
Fas cell surface death receptor
ISO
ClinVar Annotator: match by term: Moyamoya disease
ClinVar
PMID:25741868
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Mir126b
microRNA 126b
treatment
IDA
RGD
PMID:32644942
RGD:401850784
NCBI chr 3:9,415,087...9,415,159
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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 chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831
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Rnf213
ring finger protein 213
ISO
ClinVar Annotator: match by term: Moyamoya disease
ClinVar
PMID:25741868 PMID:33568546
NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918
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RT1-CE16
RT1 class I, locus CE16
susceptibility
ISO
DNA:polymorphism:HLA-A02
RGD
PMID:22234791
RGD:329961315
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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Timp2
TIMP metallopeptidase inhibitor 2
ISO
RGD
PMID:16723886
RGD:1580650
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
ClinVar Annotator: match by term: MYMY1
ClinVar
PMID:26777256
NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
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Rnf213
ring finger protein 213
ISO
ClinVar Annotator: match by term: Moyamoya disease 1
ClinVar
PMID:25741868
NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918
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Endov
endonuclease V
ISO
ClinVar Annotator: match by term: Moyamoya disease 2
ClinVar
NCBI chr10:104,760,059...104,777,732
Ensembl chr10:104,760,137...104,775,969
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Eng
endoglin
ISO
ClinVar Annotator: match by term: Moyamoya disease 2
ClinVar
PMID:25741868
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Rnf213
ring finger protein 213
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Moyamoya disease 2 | ClinVar Annotator: match by term: RNF213-related condition
OMIM CTD ClinVar
PMID:21048783 PMID:21799892 PMID:22377813 PMID:22931863 PMID:23110205 PMID:25278557 PMID:25741868 PMID:25956231 PMID:26126547 PMID:26530418 PMID:27515544 PMID:27736983 PMID:27745834 PMID:28492532 PMID:29483232 PMID:30671466 PMID:31474762 More...
NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918
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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 chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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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 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
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Ano1
anoctamin 1
ISO
ClinVar Annotator: match by term: Moyamoya disease 7
OMIM ClinVar
PMID:37253099
NCBI chr 1:199,751,439...199,900,099
Ensembl chr 1:199,751,439...199,900,069
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