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
For additional species annotation, visit the
Alliance of Genome Resources .
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APP
amyloid beta precursor protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:31939705
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
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APP
amyloid beta precursor protein
IAGP EXP
ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
ClinVar CTD OMIM
PMID:1303239 PMID:1679289 PMID:2111584 PMID:9754958 PMID:9848098 PMID:10821838 PMID:11311152 PMID:11409420 PMID:11441013 PMID:11528419 PMID:12654973 PMID:15502844 PMID:16178030 PMID:18413473 PMID:19225789 PMID:20228223 PMID:20697050 PMID:24878480 PMID:25741868 PMID:26104569 PMID:26402770 PMID:27000221 PMID:27858710 PMID:28350801 PMID:28492532
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
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ACVRL1
activin A receptor like type 1
ISS
OMIM:108010
MouseDO
NCBI chr12:51,906,913...51,923,361
Ensembl chr12:51,906,908...51,923,361
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ADGRV1
adhesion G protein-coupled receptor V1
IAGP
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 5:90,558,796...91,164,437
Ensembl chr 5:90,529,344...91,164,437
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
IAGP
ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar Annotator: match by term: Arteriovenous malformations of the brain
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:20008640 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:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 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:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 Ensembl chr 7:140,719,327...140,924,929
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CACNA1H
calcium voltage-gated channel subunit alpha1 H
IAGP
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr16:1,153,106...1,221,769
Ensembl chr16:1,153,106...1,221,771
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CCNH
cyclin H
IAGP
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:30311386
NCBI chr 5:87,311,471...87,412,971
Ensembl chr 5:87,318,416...87,412,930
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CDH2
cadherin 2
IAGP
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr18:27,932,878...28,177,130
Ensembl chr18:27,932,879...28,177,946 Ensembl chr18:27,932,879...28,177,946
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EGFR
epidermal growth factor receptor
IAGP
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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ENG
endoglin
disease_progression
IAGP ISS ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation OMIM:108010 DNA:polymorphism: : 207G>A(human)
ClinVar MouseDO
PMID:25741868 , PMID:16179574 , PMID:24520391 , PMID:24876084
RGD:1580962 , RGD:11041564 , RGD:11041171
NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658 Ensembl chr 9:127,815,013...127,854,658
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FLT1
fms related receptor tyrosine kinase 1
IEP
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
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GLI2
GLI family zinc finger 2
IAGP
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar
PMID:25741868
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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IL17RD
interleukin 17 receptor D
IAGP
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25636053 PMID:25741868
NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
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IL6
interleukin 6
IAGP
OMIM
NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
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KDR
kinase insert domain receptor
IEP
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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KRAS
KRAS proto-oncogene, GTPase
IAGP
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
OMIM ClinVar
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22407852 PMID:22499344 PMID:22683711 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23406027 PMID:24033266 PMID:25044103 PMID:25157968 PMID:25695684 PMID:26372703 PMID:28492532 PMID:29298116 PMID:31891627
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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LEMD3
LEM domain containing 3
IAGP
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
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MAP4K4
mitogen-activated protein kinase kinase kinase kinase 4
IAGP
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 2:101,697,707...101,894,690
Ensembl chr 2:101,696,850...101,894,689
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NOTCH4
notch receptor 4
ISO ISS
OMIM:108010
MouseDO
PMID:19546852
RGD:6480671
NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067
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PDCD10
programmed cell death 10
IAGP
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:167,683,298...167,735,810
Ensembl chr 3:167,683,298...167,734,939
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PITPNM3
PITPNM family member 3
IAGP
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr17:6,451,263...6,556,555
Ensembl chr17:6,451,263...6,556,555
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PREX2
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2
IAGP
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 8:67,951,918...68,237,032
Ensembl chr 8:67,952,046...68,237,032
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RASA1
RAS p21 protein activator 1
IAGP
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:30311386
NCBI chr 5:87,267,845...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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SARS1
seryl-tRNA synthetase 1
IAGP
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 1:109,213,893...109,238,182
Ensembl chr 1:109,213,918...109,238,182
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SCUBE2
signal peptide, CUB domain and EGF like domain containing 2
IAGP
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr11:9,019,476...9,091,599
Ensembl chr11:9,019,498...9,138,114 Ensembl chr11:9,019,498...9,138,114
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SYN3
synapsin III
IAGP
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr22:32,507,820...33,058,381
Ensembl chr22:32,507,820...33,058,381 Ensembl chr22:32,507,820...33,058,381
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TIMP3
TIMP metallopeptidase inhibitor 3
IAGP
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041 Ensembl chr22:32,801,705...32,863,041
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VEGFA
vascular endothelial growth factor A
IEP
RGD
PMID:16388189
RGD:1580567
NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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ZFYVE16
zinc finger FYVE-type containing 16
IAGP
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 5:80,407,615...80,483,379
Ensembl chr 5:80,408,013...80,483,379
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HTRA1
HtrA serine peptidase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
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NOTCH3
notch receptor 3
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CTD ClinVar
PMID:15229130 PMID:25741868 PMID:26467025
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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MIR6795
microRNA 6795
IAGP
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1
ClinVar
NCBI chr19:15,179,283...15,179,350
Ensembl chr19:15,179,283...15,179,350
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NOTCH3
notch receptor 3
IAGP
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 ClinVar Annotator: match by term: Recurrent subcortical infarcts
OMIM ClinVar
PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 PMID:10712431 PMID:10716263 PMID:10854111 PMID:10969905 PMID:11102981 PMID:11486103 PMID:11559313 PMID:11706120 PMID:11715067 PMID:11755616 PMID:11757773 PMID:11771160 PMID:11784372 PMID:12136071 PMID:12146805 PMID:12196662 PMID:12482954 PMID:12721871 PMID:12754354 PMID:12810003 PMID:12821756 PMID:12821764 PMID:14714274 PMID:15229130 PMID:15287509 PMID:15350543 PMID:15364702 PMID:15378071 PMID:15694192 PMID:15776792 PMID:15834039 PMID:15857853 PMID:15981641 PMID:15995828 PMID:16009764 PMID:16580020 PMID:16717210 PMID:16730748 PMID:16864835 PMID:17122431 PMID:17323840 PMID:17390743 PMID:17879447 PMID:18765654 PMID:18948701 PMID:19006080 PMID:19043263 PMID:19174371 PMID:19180562 PMID:19242647 PMID:19245392 PMID:19252787 PMID:19259619 PMID:19293235 PMID:19359623 PMID:19417009 PMID:19528524 PMID:19542611 PMID:19576955 PMID:19825845 PMID:20038773 PMID:20071773 PMID:20167921 PMID:20301673 PMID:20851625 PMID:20857162 PMID:20935329 PMID:20981092 PMID:21387384 PMID:21555590 PMID:21616505 PMID:21737310 PMID:21852154 PMID:21940951 PMID:22006983 PMID:22019870 PMID:22082899 PMID:22153900 PMID:22159056 PMID:22218279 PMID:22367839 PMID:22373597 PMID:22623959 PMID:22664156 PMID:22795385 PMID:22878905 PMID:22936449 PMID:23025651 PMID:23412372 PMID:23584202 PMID:23602593 PMID:23639391 PMID:23649698 PMID:23844775 PMID:23847153 PMID:24033266 PMID:24086431 PMID:24139282 PMID:24344756 PMID:24425116 PMID:24886907 PMID:24929957 PMID:24936512 PMID:25260786 PMID:25326637 PMID:25344745 PMID:25412914 PMID:25604251 PMID:25623805 PMID:25741868 PMID:25801821 PMID:25819272 PMID:25834748 PMID:25870235 PMID:25929831 PMID:25973016 PMID:25980907 PMID:26002683 PMID:26261665 PMID:26270344 PMID:26308724 PMID:26368811 PMID:26467025 PMID:26646783 PMID:26715087 PMID:26806700 PMID:26850715 PMID:26856460 PMID:26889213 PMID:26894465 PMID:27174004 PMID:27293347 PMID:27350778 PMID:27423596 PMID:27770446 PMID:27844030 PMID:27881154 PMID:27884173 PMID:27890607 PMID:28334938 PMID:28479817 PMID:28492532 PMID:28601945 PMID:28710804 PMID:28991717 PMID:29188607 PMID:29449082 PMID:29980472 PMID:30311053 PMID:30311386 PMID:30402942 PMID:30956055 PMID:31028544 PMID:32581362
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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HTRA1
HtrA serine peptidase 1
IAGP
ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
ClinVar OMIM
PMID:19387015 PMID:25741868 PMID:26063658 PMID:30981321 PMID:32101834 PMID:32581362
NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
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AOC3
amine oxidase copper containing 3
IEP
associated with Alzheimer Disease;protein:increased expression:brain
RGD
PMID:17393059
RGD:2313919
NCBI chr17:42,851,182...42,858,130
Ensembl chr17:42,851,184...42,858,130
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APOA1
apolipoprotein A1
ISO
RGD
PMID:20739292
RGD:5508213
NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622 Ensembl chr11:116,835,751...116,837,622
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APOE
apolipoprotein E
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11061249
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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APP
amyloid beta precursor protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21520056
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
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AQP4
aquaporin 4
IEP
RGD
PMID:21107133
RGD:5148012
NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
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CCR1
C-C motif chemokine receptor 1
IEP
RGD
PMID:14595653
RGD:5688166
NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
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ITM2B
integral membrane protein 2B
ISS
MouseDO
NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
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MME
membrane metalloendopeptidase
severity
IEP IDA
associated with Alzheimer Disease;protein:decreased expression:frontal lobe cortex (human)
RGD
PMID:17021406 , PMID:21382117
RGD:1600811 , RGD:13801026
NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704 Ensembl chr 3:155,024,124...155,183,704
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OLR1
oxidized low density lipoprotein receptor 1
IAGP
RGD
PMID:16328515
RGD:1580993
NCBI chr12:10,158,301...10,172,132
Ensembl chr12:10,158,301...10,172,138
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PSEN1
presenilin 1
IEA
GAD
PMID:15118671
RGD:1331525
NCBI chr14:73,136,436...73,223,691
Ensembl chr14:73,136,418...73,223,691
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ARMS2
age-related maculopathy susceptibility 2
IAGP
ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
ClinVar
PMID:18316707 PMID:26467025
NCBI chr10:122,454,653...122,457,352
Ensembl chr10:122,454,653...122,457,352
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HTRA1
HtrA serine peptidase 1
IAGP
ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ClinVar Annotator: match by term: CARASIL ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease
ClinVar OMIM
PMID:11889251 PMID:18316707 PMID:19387015 PMID:21115960 PMID:21482952 PMID:22900900 PMID:23963851 PMID:24500651 PMID:24535794 PMID:25741868 PMID:25770224 PMID:25772074 PMID:25957642 PMID:26063658 PMID:26467025 PMID:27164673 PMID:32101834 PMID:32581362
NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
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APP
amyloid beta precursor protein
IAGP
ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis
ClinVar
PMID:25741868
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
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CST3
cystatin C
IAGP EXP
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:18566660 PMID:25741868
NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
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ACE
angiotensin I converting enzyme
IEA
GAD
PMID:15118671
RGD:1331525
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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AGER
advanced glycosylation end-product specific receptor
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:23844137
RGD:8547935
NCBI chr 6:32,180,969...32,184,380
Ensembl chr 6:32,180,968...32,184,322
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AOC3
amine oxidase copper containing 3
ISO
protein:decreased expression:cerebral artery
RGD
PMID:18312104
RGD:2313912
NCBI chr17:42,851,182...42,858,130
Ensembl chr17:42,851,184...42,858,130
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BCL2
BCL2 apoptosis regulator
treatment
IDA
RGD
PMID:25316629
RGD:11522723
NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
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CCL2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:circle of Willis (rat)
RGD
PMID:19164781 , PMID:25316629
RGD:2307000 , RGD:11522723
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
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COL1A2
collagen type I alpha 2 chain
IAGP
RGD
PMID:14739420
RGD:1581199
NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 Ensembl chr 7:94,394,895...94,431,227
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COL22A1
collagen type XXII alpha 1 chain
susceptibility
IAGP
DNA:SNPs:cds:multiple(human)
RGD
PMID:30541770
RGD:13831344
NCBI chr 8:138,588,235...138,914,087
Ensembl chr 8:138,588,235...138,914,041
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CST3
cystatin C
IEP
protein:decreased expression:brain, artery
RGD
PMID:18635848
RGD:2306495
NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
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CTSB
cathepsin B
IEP ISO
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 chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,448 Ensembl chr 8:11,842,524...11,869,448
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CTSK
cathepsin K
IEP
protein:increased expression:brain, artery
RGD
PMID:18635848
RGD:2306495
NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,796,208...150,808,260 Ensembl chr 1:150,796,208...150,808,260
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CTSS
cathepsin S
IEP
protein:increased expression:brain, artery
RGD
PMID:18635848
RGD:2306495
NCBI chr 1:150,730,188...150,765,778
Ensembl chr 1:150,730,188...150,765,792
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ELN
elastin
TAS
RGD
PMID:15218274
RGD:1580328
NCBI chr 7:74,027,772...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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ENG
endoglin
IAGP
RGD
PMID:10223461
RGD:1580964
NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658 Ensembl chr 9:127,815,013...127,854,658
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FBN2
fibrillin 2
IAGP
ClinVar Annotator: match by term: Brain Aneurysm
ClinVar
PMID:16835936 PMID:19006240 PMID:25525159 PMID:25741868 PMID:26038974 PMID:28492532
NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
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IL6
interleukin 6
IAGP
RGD
PMID:16648144
RGD:1580488
NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
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MMP12
matrix metallopeptidase 12
no_association
IAGP
RGD
PMID:11546917
RGD:1582365
NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982
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MMP14
matrix metallopeptidase 14
IEP
RGD
PMID:9724118
RGD:1582590
NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,027
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MMP2
matrix metallopeptidase 2
susceptibility
ISO IAGP IEP
mRNA:increased expression:blood vessel
RGD
PMID:17569872 , PMID:16961137 , PMID:9724118
RGD:2290352 , RGD:1582646 , RGD:1582590
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MMP9
matrix metallopeptidase 9
treatment susceptibility
ISO IEP IAGP
mRNA:increased expression:blood vessel associated with Diabetes Mellitus, Experimental mRNA, protein:increased expression:artery
RGD
PMID:17569872 , PMID:21937941 , PMID:9310982 , PMID:23844137 , PMID:16961137 , PMID:17122420
RGD:2290352 , RGD:13204858 , RGD:13204853 , RGD:8547935 , RGD:1582646 , RGD:1642055
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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NCF1
neutrophil cytosolic factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19381132
NCBI chr 7:74,773,962...74,789,376
Ensembl chr 7:74,773,962...74,789,376
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NOS1
nitric oxide synthase 1
ISO
RGD
PMID:21321533
RGD:5131897
NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
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NOS3
nitric oxide synthase 3
ISO
RGD
PMID:21321533 , PMID:21321533
RGD:5131897 , RGD:5131897
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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PKD1
polycystin 1, transient receptor potential channel interacting
susceptibility
IAGP
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Brain aneurysm
ClinVar
PMID:25741868 , PMID:12842373
RGD:1580867
NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 Ensembl chr16:2,088,708...2,135,898
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PKD2
polycystin 2, transient receptor potential cation channel
susceptibility
IAGP
DNA:mutations:multiple (human)
RGD
PMID:12842373
RGD:1580867
NCBI chr 4:88,007,635...88,077,779
Ensembl chr 4:88,007,635...88,077,777
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PLAU
plasminogen activator, urokinase
ISO
RGD
PMID:21786025
RGD:6483795
NCBI chr10:73,909,182...73,917,497
Ensembl chr10:73,909,177...73,917,496
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SMAD3
SMAD family member 3
IAGP
ClinVar Annotator: match by term: Intracranial aneurysm
ClinVar
PMID:25326637 PMID:25741868 PMID:30311386
NCBI chr15:67,065,602...67,195,195
Ensembl chr15:67,063,763...67,195,169
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TIMP1
TIMP metallopeptidase inhibitor 1
ISO
RGD
PMID:17569872
RGD:2290352
NCBI chr X:47,582,408...47,586,789
Ensembl chr X:47,582,408...47,586,789
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TIMP2
TIMP metallopeptidase inhibitor 2
ISO
mRNA:increased expression:blood vessel
RGD
PMID:17569872
RGD:2290352
NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
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TNF
tumor necrosis factor
treatment
ISO
RGD
PMID:24628611
RGD:10450592
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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VCAN
versican
IAGP
DNA:SNP: :rs173686 (human)
RGD
PMID:16917090
RGD:1598495
NCBI chr 5:83,471,744...83,582,302
Ensembl chr 5:83,471,618...83,582,303
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THSD1
thrombospondin type 1 domain containing 1
IAGP
ClinVar Annotator: match by term: ANEURYSM, INTRACRANIAL BERRY, 12
ClinVar OMIM
NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373
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ITM2B
integral membrane protein 2B
IEP IAGP
ClinVar Annotator: match by term: Dementia familial British
OMIM ClinVar
PMID:10391242 PMID:21610757 , PMID:11159188
RGD:1358403
NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
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ITM2B
integral membrane protein 2B
IAGP
ClinVar Annotator: match by term: Dementia, familial Danish ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
ClinVar OMIM
PMID:5457846 PMID:10781099 PMID:25741868
NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
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ABCC8
ATP binding cassette subfamily C member 8
treatment
ISO
RGD
PMID:23149556 , PMID:24602692
RGD:12790979 , RGD:12791996
NCBI chr11:17,392,498...17,476,849
Ensembl chr11:17,392,498...17,476,879
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ACE
angiotensin I converting enzyme
treatment
ISO
RGD
PMID:24471927
RGD:11039026
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ACE2
angiotensin I converting enzyme 2
ISO
mRNA, protein:increased expression:brain
RGD
PMID:24090950
RGD:9685436
NCBI chr X:15,518,197...15,602,158
Ensembl chr X:15,561,033...15,602,148 Ensembl chr X:15,561,033...15,602,148
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ADORA1
adenosine A1 receptor
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:23437309
NCBI chr 1:203,127,705...203,167,405
Ensembl chr 1:203,090,654...203,167,405
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AGER
advanced glycosylation end-product specific receptor
ISO EXP
associated with Diabetes Mellitus, Experimental CTD Direct Evidence: marker/mechanism
CTD
PMID:25446913 , PMID:24211797
RGD:8696008
NCBI chr 6:32,180,969...32,184,380
Ensembl chr 6:32,180,968...32,184,322
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AGT
angiotensinogen
ISO
protein:increased expression:brain, serum
RGD
PMID:24090950
RGD:9685436
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,702,523...230,714,122
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AIFM1
apoptosis inducing factor mitochondria associated 1
ISO
protein:altered localization: :
RGD
PMID:15181376
RGD:10047403
NCBI chr X:130,129,362...130,165,841
Ensembl chr X:130,124,666...130,165,879 Ensembl chr X:130,124,666...130,165,879
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AK1
adenylate kinase 1
ISO
protein:decreased expression:cerebral cortex (rat)
RGD
PMID:16468349
RGD:5508760
NCBI chr 9:127,866,480...127,885,542
Ensembl chr 9:127,866,486...127,877,675
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ALB
albumin
treatment
IDA
RGD
PMID:22227456
RGD:11036100
NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
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ALOX5
arachidonate 5-lipoxygenase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19309543
NCBI chr10:45,374,209...45,446,121
Ensembl chr10:45,374,176...45,446,119
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AP2B1
adaptor related protein complex 2 subunit beta 1
ISO
protein:increased degradation:brain
RGD
PMID:19240038
RGD:13461853
NCBI chr17:35,587,265...35,726,413
Ensembl chr17:35,578,046...35,726,413
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APAF1
apoptotic peptidase activating factor 1
treatment
ISO
RGD
PMID:24012531
RGD:13703113
NCBI chr12:98,645,141...98,735,433
Ensembl chr12:98,645,141...98,735,433 Ensembl chr12:98,645,141...98,735,433
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APOE
apolipoprotein E
ISO
RGD
PMID:19623195
RGD:6903926
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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APP
amyloid beta precursor protein
treatment
ISO
RGD
PMID:28963051
RGD:13782054
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
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AQP4
aquaporin 4
treatment
ISO
RGD
PMID:20815926
RGD:8695955
NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
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ARC
activity regulated cytoskeleton associated protein
ISO
RGD
PMID:22645329
RGD:10395314
NCBI chr 8:142,611,049...142,614,479
Ensembl chr 8:142,611,049...142,614,479
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ATF3
activating transcription factor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 1:212,565,407...212,620,777
Ensembl chr 1:212,565,334...212,620,777
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BAD
BCL2 associated agonist of cell death
treatment
ISO
RGD
PMID:22200499 , PMID:21891976
RGD:10053665 , RGD:10053704
NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704
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BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:23143152
RGD:10054501
NCBI chr19:48,954,825...48,961,798
Ensembl chr19:48,954,815...48,961,798
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BCAN
brevican
ISO
RGD
PMID:15869933
RGD:9590118
NCBI chr 1:156,642,117...156,659,528
Ensembl chr 1:156,641,390...156,659,532
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BCL2
BCL2 apoptosis regulator
treatment
ISO
RGD
PMID:23143152
RGD:10054501
NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
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BDNF
brain derived neurotrophic factor
treatment
ISO
RGD
PMID:20417695
RGD:4891138
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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BECN1
beclin 1
treatment
ISO
RGD
PMID:22108007
RGD:11561900
NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
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BNIP3
BCL2 interacting protein 3
ISO
protein:increased expression:brain
RGD
PMID:17379825
RGD:9685412
NCBI chr10:131,967,683...131,982,013
Ensembl chr10:131,966,455...131,982,013
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BNIP3L
BCL2 interacting protein 3 like
ISO
RGD
PMID:15902200 , PMID:21029239
RGD:2314138 , RGD:9068917
NCBI chr 8:26,383,054...26,413,127
Ensembl chr 8:26,383,054...26,505,636
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C3
complement C3
ISO EXP
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD
PMID:23199288 , PMID:22103620
RGD:7175514
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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CAMK2A
calcium/calmodulin dependent protein kinase II alpha
ISO
RGD
PMID:14688616
RGD:1358416
NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,291
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CASP3
caspase 3
treatment
ISO
RGD
PMID:21891976 , PMID:26868427 , PMID:23143152
RGD:10053704 , RGD:13782346 , RGD:10054501
NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,649,509
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CASP6
caspase 6
ISO
RGD
PMID:26868427
RGD:13782346
NCBI chr 4:109,688,628...109,703,445
Ensembl chr 4:109,688,622...109,703,583
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CASP9
caspase 9
treatment
ISO
RGD
PMID:26868427
RGD:13782346
NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
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CCL2
C-C motif chemokine ligand 2
EXP
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:12374626 PMID:23043544 PMID:25257527
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
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CCL7
C-C motif chemokine ligand 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242
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CD36
CD36 molecule
treatment
ISO
RGD
PMID:25216018
RGD:11041113
NCBI chr 7:80,602,207...80,679,277
Ensembl chr 7:80,369,575...80,679,277
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CD86
CD86 molecule
ISO
protein:increased expression:brain subventricular zone, microglial cell (rat)
RGD
PMID:19053043
RGD:2313025
NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
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CDK5
cyclin dependent kinase 5
ISO
RGD
PMID:24920629
RGD:13782375
NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897
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CLDN5
claudin 5
treatment
ISO
RGD
PMID:24842554
RGD:13204729
NCBI chr22:19,523,024...19,525,337
Ensembl chr22:19,523,024...19,527,545
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CRH
corticotropin releasing hormone
ISO
protein:decreased expression:median eminence of hypothalamus (rat)
RGD
PMID:21741032
RGD:5490538
NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464
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CRP
C-reactive protein
IDA
RGD
PMID:15545914
RGD:9585995
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CRTC1
CREB regulated transcription coactivator 1
treatment
ISO
RGD
PMID:20417695
RGD:4891138
NCBI chr19:18,683,621...18,782,333
Ensembl chr19:18,683,678...18,782,333
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CSF3
colony stimulating factor 3
treatment
IDA ISO
mRNA, protein:increased expression:brain:
RGD
PMID:19298757 , PMID:15530654
RGD:11039420 , RGD:11039425
NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
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CXCL10
C-X-C motif chemokine ligand 10
IDA
RGD
PMID:10825390
RGD:632989
NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
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CXCL2
C-X-C motif chemokine ligand 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
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CXCR2
C-X-C motif chemokine receptor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr 2:218,125,294...218,137,253
Ensembl chr 2:218,125,289...218,137,251
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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:71,615,913...71,618,515
Ensembl chr X:71,615,916...71,618,511
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CYP2E1
cytochrome P450 family 2 subfamily E member 1
ISO
RGD
PMID:23002367
RGD:14700877
NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
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DNMT1
DNA methyltransferase 1
ISO
RGD
PMID:11726790
RGD:9588643
NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,345...10,231,286 Ensembl chr19:10,133,345...10,231,286
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DNMT3A
DNA methyltransferase 3 alpha
ISO
RGD
PMID:23516428
RGD:9589049
NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
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DYNLL1
dynein light chain LC8-type 1
ISO
RGD
PMID:9522364
RGD:13208524
NCBI chr12:120,469,842...120,498,493
Ensembl chr12:120,469,850...120,498,493
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EDN1
endothelin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17197033
NCBI chr 6:12,256,463...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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EGR1
early growth response 1
ISO
RGD
PMID:22645329
RGD:10395314
NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
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EGR2
early growth response 2
ISO
RGD
PMID:22645329
RGD:10395314
NCBI chr10:62,811,996...62,819,167
Ensembl chr10:62,811,996...62,919,900
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EGR4
early growth response 4
ISO
RGD
PMID:22645329
RGD:10395314
NCBI chr 2:73,290,929...73,293,548
Ensembl chr 2:73,290,929...73,293,701
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EIF2S1
eukaryotic translation initiation factor 2 subunit alpha
treatment
ISO
RGD
PMID:23669639 , PMID:19763736
RGD:10395346 , RGD:10755569
NCBI chr14:67,360,328...67,386,516
Ensembl chr14:67,360,151...67,386,516 Ensembl chr14:67,360,151...67,386,516
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ELANE
elastase, neutrophil expressed
treatment
ISO
RGD
PMID:10700596
RGD:10450546
NCBI chr19:850,997...856,250
Ensembl chr19:851,014...856,247
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ENG
endoglin
ISO
RGD
PMID:24876084
RGD:11041171
NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658 Ensembl chr 9:127,815,013...127,854,658
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EPCAM
epithelial cell adhesion molecule
ISO
RGD
PMID:15950761
RGD:11038820
NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601
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EPN1
epsin 1
ISO
protein:increased degradation:brain
RGD
PMID:19240038
RGD:13461853
NCBI chr19:55,675,226...55,709,533
Ensembl chr19:55,675,226...55,709,858
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EPO
erythropoietin
treatment
IDA IMP
RGD
PMID:20833153 , PMID:20547143
RGD:10400898 , RGD:10401066
NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
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ERCC6
ERCC excision repair 6, chromatin remodeling factor
ISO
RGD
PMID:9974119
RGD:10401103
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,470...49,539,538
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F11
coagulation factor XI
ISO
RGD
PMID:16533887
RGD:11041786
NCBI chr 4:186,265,964...186,290,727
Ensembl chr 4:186,266,189...186,289,681 Ensembl chr 4:186,266,189...186,289,681
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F12
coagulation factor XII
treatment
ISO IDA
RGD
PMID:16533887 , PMID:16533887
RGD:11041786 , RGD:11041786
NCBI chr 5:177,402,138...177,409,564
Ensembl chr 5:177,402,141...177,409,564 Ensembl chr 5:177,402,141...177,409,564
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F2
coagulation factor II, thrombin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29651748
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 Ensembl chr11:46,719,196...46,739,506
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FADD
Fas associated via death domain
treatment
ISO
RGD
PMID:18950622 , PMID:23378241
RGD:11341807 , RGD:11344885
NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,163...70,207,390 Ensembl chr11:70,203,163...70,207,390
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FGF21
fibroblast growth factor 21
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr19:48,755,524...48,758,330
Ensembl chr19:48,755,524...48,758,333
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
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GABRA6
gamma-aminobutyric acid type A receptor subunit alpha6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr 5:161,685,721...161,702,592
Ensembl chr 5:161,547,063...161,702,593
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GAPDH
glyceraldehyde-3-phosphate dehydrogenase
ISO
RGD
PMID:25882840
RGD:13792686
NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374
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GHRL
ghrelin and obestatin prepropeptide
treatment
ISO
RGD
PMID:19352052
RGD:9850083
NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947
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GHSR
growth hormone secretagogue receptor
ISO
RGD
PMID:19352052
RGD:9850083
NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456
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GRIN1
glutamate ionotropic receptor NMDA type subunit 1
treatment
ISO
RGD
PMID:26674869
RGD:11068571
NCBI chr 9:137,139,092...137,168,759
Ensembl chr 9:137,139,154...137,168,756
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GRN
granulin precursor
treatment
ISO
RGD
PMID:23972823
RGD:10401661
NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
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GRPEL1
GrpE like 1, mitochondrial
ISO
mRNA:increased expression:cerebral cortex
RGD
PMID:12505684
RGD:632868
NCBI chr 4:7,058,895...7,068,064
Ensembl chr 4:7,058,895...7,068,064
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GSK3B
glycogen synthase kinase 3 beta
treatment
ISO
RGD
PMID:28440874
RGD:13792734
NCBI chr 3:119,821,321...120,095,823
Ensembl chr 3:119,821,323...120,094,417 Ensembl chr 3:119,821,323...120,094,417 Ensembl chr 3:119,821,323...120,094,417
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HAMP
hepcidin antimicrobial peptide
ISO
mRNA, protein:increased expression:cerebral cortex, hippocampus, corpus striatum
RGD
PMID:21957487
RGD:11041635
NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
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HAS2
hyaluronan synthase 2
ISO
mRNA:increased expression:brain
RGD
PMID:11283406
RGD:9588631
NCBI chr 8:121,612,116...121,641,440
Ensembl chr 8:121,612,116...121,641,440
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HDAC4
histone deacetylase 4
treatment
ISO
mRNA,protein:decreased expression:brain:
RGD
PMID:23480850
RGD:9681449
NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
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HDAC5
histone deacetylase 5
treatment
ISO
mRNA,protein:decreased expression:brain:
RGD
PMID:23480850
RGD:9681449
NCBI chr17:44,076,753...44,123,651
Ensembl chr17:44,076,746...44,123,702
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HDAC9
histone deacetylase 9
ISO
mRNA:increased expression:brain
RGD
PMID:23480850
RGD:9681449
NCBI chr 7:18,086,825...19,002,416
Ensembl chr 7:18,086,949...19,002,416
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HIF1A
hypoxia inducible factor 1 subunit alpha
treatment
ISO
RGD
PMID:21029239
RGD:9068917
NCBI chr14:61,695,513...61,748,259
Ensembl chr14:61,695,513...61,748,259
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HMGB1
high mobility group box 1
treatment
ISO
RGD
PMID:23480850
RGD:9681449
NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
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HMOX1
heme oxygenase 1
treatment
ISO IMP
RGD
PMID:24252362 , PMID:23870531 , PMID:20888632
RGD:10755587 , RGD:10755755 , RGD:10755588
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,207 Ensembl chr22:35,380,361...35,394,207
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HP
haptoglobin
ISO
RGD
PMID:22103620
RGD:7175514
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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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 5:133,052,013...133,106,449
Ensembl chr 5:133,052,013...133,106,449
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HSPD1
heat shock protein family D (Hsp60) member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
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HTRA2
HtrA serine peptidase 2
ISO
protein:increased expression:brain, cytosol (rat) protein:increased expression:brain, cytosol (mouse)
RGD
PMID:16978742 , PMID:15306124
RGD:2314385 , RGD:5688372
NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,725...74,533,332 Ensembl chr 2:74,529,725...74,533,332
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HVCN1
hydrogen voltage gated channel 1
ISO
RGD
PMID:31250553
RGD:14985213
NCBI chr12:110,648,686...110,704,945
Ensembl chr12:110,627,841...110,704,950
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ICAM1
intercellular adhesion molecule 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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IGF1
insulin like growth factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
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IKBKB
inhibitor of nuclear factor kappa B kinase subunit beta
treatment
ISO
RGD
PMID:16286924
RGD:10045955
NCBI chr 8:42,270,727...42,332,460
Ensembl chr 8:42,271,302...42,332,653 Ensembl chr 8:42,271,302...42,332,653
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IL11
interleukin 11
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr19:55,364,382...55,370,463
Ensembl chr19:55,364,382...55,370,463
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IL13
interleukin 13
ISO
protein:increased expression:cerebral cortex
RGD
PMID:23028794
RGD:7204480
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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IL1B
interleukin 1 beta
treatment
ISO EXP
protein:increased expression:cerebral cortex (rat) CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527 , PMID:23028794 , PMID:29498696 , PMID:24916922
RGD:7204480 , RGD:13792833 , RGD:10450594
NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
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IL1RN
interleukin 1 receptor antagonist
treatment
IMP
human gene in a rat model
RGD
PMID:7790404
RGD:8551708
NCBI chr 2:113,099,365...113,134,016
Ensembl chr 2:113,107,214...113,134,016
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IL22
interleukin 22
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr12:68,248,242...68,253,604
Ensembl chr12:68,248,242...68,253,604
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IL4
interleukin 4
ISO
protein:increased expression:cerebral cortex
RGD
PMID:23028794
RGD:7204480
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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IL5
interleukin 5
ISO
RGD
PMID:23028794
RGD:7204480
NCBI chr 5:132,539,194...132,556,864
Ensembl chr 5:132,541,445...132,556,838
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IL6
interleukin 6
treatment
EXP ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626 PMID:21940958 PMID:25257527 , PMID:29498696
RGD:13792833
NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
G
IL6R
interleukin 6 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21940958
NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
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IL6ST
interleukin 6 signal transducer
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21940958
NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
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INA
internexin neuronal intermediate filament protein alpha
ISO
RGD
PMID:29967576
RGD:27226878
NCBI chr10:103,277,138...103,290,346
Ensembl chr10:103,277,138...103,290,346
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IRF4
interferon regulatory factor 4
ISO
RGD
PMID:25652434
RGD:11530061
NCBI chr 6:391,752...411,443
Ensembl chr 6:391,752...411,443
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JUNB
JunB proto-oncogene, AP-1 transcription factor subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr19:12,791,486...12,793,315
Ensembl chr19:12,791,486...12,793,315
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MAG
myelin associated glycoprotein
treatment
ISO
RGD
PMID:15678116
RGD:9685232
NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807
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MAPK1
mitogen-activated protein kinase 1
treatment
ISO
RGD
PMID:27152455
RGD:13800881
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,754,500...21,867,680 Ensembl chr22:21,754,500...21,867,680
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MAPK3
mitogen-activated protein kinase 3
treatment
ISO
RGD
PMID:27152455
RGD:13800881
NCBI chr16:30,114,105...30,123,309
Ensembl chr16:30,114,105...30,123,506
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MAPT
microtubule associated protein tau
treatment
ISO
RGD
PMID:28886009 , PMID:25903928 , PMID:28886009
RGD:13800886 , RGD:13800913 , RGD:13800886
NCBI chr17:45,894,538...46,028,334
Ensembl chr17:45,894,551...46,028,334 Ensembl chr17:45,894,551...46,028,334
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MMP9
matrix metallopeptidase 9
treatment
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19309543 , PMID:24842554
RGD:13204729
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MT3
metallothionein 3
ISO
protein:decreased expression:brain
RGD
PMID:8869568
RGD:9685807
NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088
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MTOR
mechanistic target of rapamycin kinase
treatment
ISO
RGD
PMID:24583056 , PMID:21185267 , PMID:23777415
RGD:10040971 , RGD:10041016 , RGD:10040974
NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
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NAE1
NEDD8 activating enzyme E1 subunit 1
ISO
RGD
PMID:21386696
RGD:13801046
NCBI chr16:66,802,878...66,830,977
Ensembl chr16:66,802,875...66,873,256
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NAMPT
nicotinamide phosphoribosyltransferase
treatment
ISO
RGD
PMID:28495827
RGD:13781880
NCBI chr 7:106,248,298...106,284,983
Ensembl chr 7:106,248,298...106,286,326
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NEFH
neurofilament heavy
ISO
RGD
PMID:29967576
RGD:27226878
NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
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NEFL
neurofilament light
ISO
protein:increased expression:brain
RGD
PMID:29967576
RGD:27226878
NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,957,110 Ensembl chr 8:24,950,955...24,957,110
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NEFM
neurofilament medium
ISO
protein:altered expression:brain
RGD
PMID:29967576
RGD:27226878
NCBI chr 8:24,913,761...24,919,093
Ensembl chr 8:24,913,758...24,919,098
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NFE2L2
nuclear factor, erythroid 2 like 2
treatment
ISO
RGD
PMID:23880501 , PMID:24466583
RGD:10412696 , RGD:10412714
NCBI chr 2:177,230,303...177,265,131
Ensembl chr 2:177,227,595...177,392,697
G
NFKBIA
NFKB inhibitor alpha
treatment
ISO
RGD
PMID:21122797
RGD:10413868
NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,511...35,404,749 Ensembl chr14:35,401,511...35,404,749
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NGF
nerve growth factor
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:10408807
NCBI chr 1:115,285,915...115,338,253
Ensembl chr 1:115,285,917...115,338,256 Ensembl chr 1:115,285,917...115,338,256 Ensembl chr 1:115,285,917...115,338,256
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NGFR
nerve growth factor receptor
treatment
ISO
RGD
PMID:22678884
RGD:10413900
NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
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NOD2
nucleotide binding oligomerization domain containing 2
treatment
ISO
RGD
PMID:24842554
RGD:13204729
NCBI chr16:50,693,587...50,733,077
Ensembl chr16:50,693,588...50,734,041
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NOS2
nitric oxide synthase 2
ISO
protein:increased expression:brain (rat) mRNA:increased expression:brain (mouse)
RGD
PMID:21959178 , PMID:22020035
RGD:5508751 , RGD:5509037
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
G
NQO1
NAD(P)H quinone dehydrogenase 1
treatment
ISO
protein:increased expression:brain
RGD
PMID:21120604 , PMID:25069640
RGD:5133239 , RGD:11035212
NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668
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NRG1
neuregulin 1
treatment
IDA
RGD
PMID:20691195
RGD:10449015
NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
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OGG1
8-oxoguanine DNA glycosylase
treatment
ISO
associated with Hypertension
RGD
PMID:17920569
RGD:8657395
NCBI chr 3:9,749,952...9,788,246
Ensembl chr 3:9,749,944...9,788,219
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PARK7
Parkinsonism associated deglycase
treatment
IDA
RGD
PMID:17882163
RGD:13463450
NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505
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PARP1
poly(ADP-ribose) polymerase 1
treatment
ISO
RGD
PMID:21311064 , PMID:25882840 , PMID:23143152 , PMID:23801245
RGD:5683909 , RGD:13792686 , RGD:10054501 , RGD:11073732
NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,691...226,408,093 Ensembl chr 1:226,360,691...226,408,093
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PAWR
pro-apoptotic WT1 regulator
treatment
ISO
protein:increased expression:brain:
RGD
PMID:16403464 , PMID:19352052 , PMID:11323519
RGD:9835380 , RGD:9850083 , RGD:9835381
NCBI chr12:79,584,879...79,691,097
Ensembl chr12:79,574,979...79,690,964
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PDGFRA
platelet derived growth factor receptor alpha
treatment
ISO
RGD
PMID:16917016
RGD:11084934
NCBI chr 4:54,229,127...54,298,245
Ensembl chr 4:54,229,280...54,298,245
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PDGFRB
platelet derived growth factor receptor beta
treatment
ISO
RGD
PMID:16917016
RGD:11084934
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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PLAT
plasminogen activator, tissue type
ISO EXP
CTD Direct Evidence: therapeutic
CTD
PMID:12297567 PMID:17690543 PMID:18453163 PMID:20547619 PMID:29651748 , PMID:14512838
RGD:1580876
NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,676 Ensembl chr 8:42,174,718...42,207,676
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PLAU
plasminogen activator, urokinase
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:11677890 PMID:15181847 PMID:17702958
NCBI chr10:73,909,182...73,917,497
Ensembl chr10:73,909,177...73,917,496
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PLD1
phospholipase D1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 3:171,600,404...171,810,483
Ensembl chr 3:171,600,404...171,810,950
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PRKCG
protein kinase C gamma
IEP
RGD
PMID:14688616
RGD:1358416
NCBI chr19:53,882,197...53,907,652
Ensembl chr19:53,879,190...53,907,652
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PROC
protein C, inactivator of coagulation factors Va and VIIIa
treatment
ISO
RGD
PMID:24159062
RGD:11100027
NCBI chr 2:127,418,143...127,429,246
Ensembl chr 2:127,418,427...127,429,246 Ensembl chr 2:127,418,427...127,429,246
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PTPRZ1
protein tyrosine phosphatase receptor type Z1
ISO
mRNA:increased expression:cerebral cortex
RGD
PMID:15869933
RGD:9590118
NCBI chr 7:121,873,161...122,062,036
Ensembl chr 7:121,873,089...122,062,036
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RELN
reelin
severity
ISO
RGD
PMID:16438965
RGD:13207538
NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,784...103,989,658
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RGMA
repulsive guidance molecule BMP co-receptor a
treatment
ISO
RGD
PMID:21840379 , PMID:23275173
RGD:9850121 , RGD:9850122
NCBI chr15:93,035,271...93,089,211
Ensembl chr15:93,035,273...93,089,204
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RPL28
ribosomal protein L28
ISO
RGD
PMID:16805800
RGD:6480229
NCBI chr19:55,385,932...55,403,342
Ensembl chr19:55,385,345...55,403,250 Ensembl chr19:55,385,345...55,403,250
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RUNX1
RUNX family transcription factor 1
ISO
mRNA:increased expression:brain
RGD
PMID:24672479
RGD:11251714
NCBI chr21:35,372,507...35,580,764
Ensembl chr21:34,787,801...36,004,667
G
RUNX1
RUNX family transcription factor 1
ISO
mRNA:increased expression:brain
RGD
PMID:24672479
RGD:11251714
NCBI chr21:34,787,801...35,049,334
Ensembl chr21:34,787,801...36,004,667
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S100A5
S100 calcium binding protein A5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25257527
NCBI chr 1:153,537,114...153,543,514
Ensembl chr 1:153,537,147...153,541,765
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SERPINE1
serpin family E member 1
ISO
RGD
PMID:14512838
RGD:1580876
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 Ensembl chr 7:101,127,104...101,139,247
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SERPINF1
serpin family F member 1
treatment
ISO
RGD
PMID:22714093
RGD:8655545
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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SERPINH1
serpin family H member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783
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SHH
sonic hedgehog signaling molecule
treatment
IDA
RGD
PMID:22324418
RGD:12879461
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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SIRT1
sirtuin 1
treatment
ISO
RGD
PMID:23600725 , PMID:23600725
RGD:9585664 , RGD:9585664
NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
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SLC12A2
solute carrier family 12 member 2
treatment
ISO IEP
protein:increased expression:brain:
RGD
PMID:12535773 , PMID:27798271
RGD:1580583 , RGD:14398833
NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
G
SLC2A1
solute carrier family 2 member 1
treatment
ISO
RGD
PMID:9419067
RGD:12879855
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 Ensembl chr 1:42,925,353...42,958,893
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SLC9A1
solute carrier family 9 member A1
treatment
ISO
RGD
PMID:31250553
RGD:14985213
NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981
G
SLPI
secretory leukocyte peptidase inhibitor
treatment
ISO
RGD
PMID:14500739
RGD:9999390
NCBI chr20:45,252,239...45,254,564
Ensembl chr20:45,252,239...45,254,564
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SMO
smoothened, frizzled class receptor
treatment
ISO
RGD
PMID:23696546 , PMID:23499832
RGD:12832759 , RGD:12879404
NCBI chr 7:129,188,633...129,213,548
Ensembl chr 7:129,188,633...129,213,545
G
SMOX
spermine oxidase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30576531
NCBI chr20:4,148,828...4,187,732
Ensembl chr20:4,120,980...4,187,747
G
SNAP91
synaptosome associated protein 91
ISO
protein:increased degradation:brain
RGD
PMID:19240038
RGD:13461853
NCBI chr 6:83,552,885...83,709,408
Ensembl chr 6:83,552,880...83,709,691
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SOD1
superoxide dismutase 1
treatment
ISO
mRNA, protein:increased expression:cerebral cortex (rat)
RGD
PMID:22001340 , PMID:22133807
RGD:8657021 , RGD:8657023
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,622...31,668,931 Ensembl chr21:31,659,622...31,668,931
G
SOD2
superoxide dismutase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21940958
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 Ensembl chr 6:159,669,069...159,762,529 Ensembl chr 6:159,669,069...159,762,529
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SPHK2
sphingosine kinase 2
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:23043544
NCBI chr19:48,619,409...48,630,407
Ensembl chr19:48,619,291...48,630,717
G
STAT3
signal transducer and activator of transcription 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21940958
NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,482 Ensembl chr17:42,313,324...42,388,482 Ensembl chr17:42,313,324...42,388,482
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TGFB1
transforming growth factor beta 1
ISO
RGD
PMID:31409163
RGD:14995477
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TH
tyrosine hydroxylase
ISO
protein:decreased expression:substantia nigra pars compacta, neuron (rat)
RGD
PMID:21366664
RGD:5128609
NCBI chr11:2,163,929...2,174,081
Ensembl chr11:2,163,929...2,171,877 Ensembl chr11:2,163,929...2,171,877
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TNF
tumor necrosis factor
treatment
ISO
RGD
PMID:24916922 , PMID:15647744 , PMID:29498696
RGD:10450594 , RGD:13825261 , RGD:13792833
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFAIP6
TNF alpha induced protein 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 2:151,357,592...151,380,046
Ensembl chr 2:151,357,592...151,380,046
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
RGD
PMID:15647744
RGD:13825261
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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UPP1
uridine phosphorylase 1
ISO
mRNA, protein:increased expression:brain (rat)
RGD
PMID:18457515
RGD:2317094
NCBI chr 7:48,088,308...48,108,736
Ensembl chr 7:48,088,628...48,108,736
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XDH
xanthine dehydrogenase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12374626
NCBI chr 2:31,334,320...31,414,777
Ensembl chr 2:31,334,321...31,414,742
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ACTA2
actin alpha 2, smooth muscle
IAGP IEA
ClinVar Annotator: match by term: Moyamoya disease OMIM:252350 | OMIM:300845 | OMIM:607151 | OMIM:608796 | OMIM:614042 | OMIM:615750
ClinVar MouseDO
PMID:25741868 PMID:28492532
NCBI chr10:88,935,074...88,991,397
Ensembl chr10:88,935,074...88,991,339
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ACTA2-AS1
ACTA2 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Moyamoya disease
ClinVar
NCBI chr10:88,932,684...88,939,974
Ensembl chr10:88,932,390...88,940,820
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FAS
Fas cell surface death receptor
IAGP
ClinVar Annotator: match by term: Moyamoya disease
ClinVar
NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
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GUCY1A1
guanylate cyclase 1 soluble subunit alpha 1
IEA
OMIM:252350 | OMIM:300845 | OMIM:607151 | OMIM:608796 | OMIM:614042 | OMIM:615750
MouseDO
NCBI chr 4:155,666,725...155,737,059
Ensembl chr 4:155,666,726...155,737,059 Ensembl chr 4:155,666,726...155,737,059
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RNF213
ring finger protein 213
IEA
OMIM:252350 | OMIM:300845 | OMIM:607151 | OMIM:608796 | OMIM:614042 | OMIM:615750
MouseDO
NCBI chr17:80,260,820...80,398,794
Ensembl chr17:80,260,866...80,398,786
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TIMP2
TIMP metallopeptidase inhibitor 2
IAGP
RGD
PMID:16723886
RGD:1580650
NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
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GUCY1A1
guanylate cyclase 1 soluble subunit alpha 1
IAGP
ClinVar Annotator: match by term: Moyamoya disease 1
ClinVar
PMID:26777256
NCBI chr 4:155,666,725...155,737,059
Ensembl chr 4:155,666,726...155,737,059 Ensembl chr 4:155,666,726...155,737,059
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RNF213
ring finger protein 213
susceptibility
IAGP EXP
ClinVar Annotator: match by term: Moyamoya disease 2 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:21048783 PMID:21799892 PMID:22377813 PMID:22931863 PMID:25278557 PMID:25741868 PMID:28492532 PMID:31474762
NCBI chr17:80,260,820...80,398,794
Ensembl chr17:80,260,866...80,398,786
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RNF213-AS1
RNF213 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Moyamoya disease 2
ClinVar
PMID:21799892 PMID:25278557 PMID:25741868 PMID:28492532 PMID:31474762
NCBI chr17:80,351,830...80,415,168
Ensembl chr17:80,351,828...80,415,168
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BCAP31
B cell receptor associated protein 31
IAGP
ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome
ClinVar
PMID:24011989 PMID:25741868
NCBI chr X:153,700,492...153,724,746
Ensembl chr X:153,700,492...153,724,565
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SLC6A8
solute carrier family 6 member 8
IAGP
ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome
ClinVar
PMID:24011989
NCBI chr X:153,687,926...153,696,593
Ensembl chr X:153,687,926...153,696,588
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ACTA2
actin alpha 2, smooth muscle
IAGP
ClinVar Annotator: match by term: Moyamoya disease 5
ClinVar OMIM
PMID:10532176 PMID:13129918 PMID:14730227 PMID:15138499 PMID:15472996 PMID:17994018 PMID:19409525 PMID:20734336 PMID:20970362 PMID:22302747 PMID:22543189 PMID:22752479 PMID:22790431 PMID:22831780 PMID:22946110 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:28492532 PMID:29300374 PMID:30311386
NCBI chr10:88,935,074...88,991,397
Ensembl chr10:88,935,074...88,991,339
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ACTA2-AS1
ACTA2 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Moyamoya disease 5
ClinVar
PMID:17994018 PMID:19409525 PMID:25644172 PMID:26153420 PMID:28492532
NCBI chr10:88,932,684...88,939,974
Ensembl chr10:88,932,390...88,940,820
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GUCY1A1
guanylate cyclase 1 soluble subunit alpha 1
IAGP
ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia
ClinVar OMIM
PMID:24581742 PMID:25741868 PMID:26777256
NCBI chr 4:155,666,725...155,737,059
Ensembl chr 4:155,666,726...155,737,059 Ensembl chr 4:155,666,726...155,737,059
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APP
amyloid beta precursor protein
IEP
protein:decreased expression:cerebrospinal fluid:
RGD
PMID:1677459
RGD:10054257
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
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BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:18938189
RGD:10054050
NCBI chr19:48,954,825...48,961,798
Ensembl chr19:48,954,815...48,961,798
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BCL2
BCL2 apoptosis regulator
treatment
ISO
RGD
PMID:18938189
RGD:10054050
NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
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G6PD
glucose-6-phosphate dehydrogenase
treatment
ISO
RGD
PMID:21279683
RGD:10449132
NCBI chr X:154,531,390...154,547,569
Ensembl chr X:154,531,391...154,547,572
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IL2
interleukin 2
severity
IEP
protein:increased secretion:mononuclear cell:
RGD
PMID:8586980
RGD:10047081
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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APP
amyloid beta precursor protein
IAGP
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:22312439 PMID:25104557 PMID:25174650 PMID:25604855 PMID:26242991 PMID:26467025 PMID:27312774 PMID:28492532
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
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ATP5F1A
ATP synthase F1 subunit alpha
IEP
RGD
PMID:24448401
RGD:14696801
NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334
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AVP
arginine vasopressin
ISO
protein:decreased expression:brain
RGD
PMID:18925713
RGD:2303174
NCBI chr20:3,082,556...3,093,521
Ensembl chr20:3,082,556...3,084,724
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BDNF
brain derived neurotrophic factor
treatment
ISO
RGD
PMID:24622829
RGD:10059369
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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C1R
complement C1r
IAGP
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:25741868
NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
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CACNA1A
calcium voltage-gated channel subunit alpha1 A
IAGP
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:25741868
NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
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CCM2
CCM2 scaffold protein
IAGP
ClinVar Annotator: match by term: Vascular dementia
ClinVar
NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
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CDK5
cyclin dependent kinase 5
treatment
ISO
RGD
PMID:27118553
RGD:13792766
NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897
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COL4A1
collagen type IV alpha 1 chain
IAGP
ClinVar Annotator: match by term: Vascular dementia
ClinVar
NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157
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COL4A2
collagen type IV alpha 2 chain
IAGP
ClinVar Annotator: match by term: Vascular dementia
ClinVar
NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209
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COL4A2-AS1
COL4A2 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Vascular dementia
ClinVar
NCBI chr13:110,502,576...110,508,179
Ensembl chr13:110,502,575...110,508,179
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EIF4E
eukaryotic translation initiation factor 4E
ISO
protein:decreased expression:hippocampus
RGD
PMID:23053837
RGD:10401142
NCBI chr 4:98,879,276...98,929,133
Ensembl chr 4:98,871,684...98,930,637
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EPO
erythropoietin
ISO
RGD
PMID:17037738
RGD:10400891
NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
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FGFR1
fibroblast growth factor receptor 1
treatment
ISO
RGD
PMID:22500404
RGD:10402076
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FLT1
fms related receptor tyrosine kinase 1
treatment
ISO
RGD
PMID:22500404
RGD:10402076
NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
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GCLM
glutamate-cysteine ligase modifier subunit
susceptibility
IAGP
associated with stroke;DNA:polymorphism:promoter:-588C>T(human)
RGD
PMID:17548779
RGD:10402374
NCBI chr 1:93,885,199...93,910,370
Ensembl chr 1:93,885,199...93,909,456
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GPX1
glutathione peroxidase 1
treatment
ISO
RGD
PMID:24968700
RGD:11352822
NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,176...49,358,358
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GRIN1
glutamate ionotropic receptor NMDA type subunit 1
IEP
associated with Alzheimer's disease
RGD
PMID:25261450
RGD:13792687
NCBI chr 9:137,139,092...137,168,759
Ensembl chr 9:137,139,154...137,168,756
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GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
IEP
RGD
PMID:25261450
RGD:13792687
NCBI chr16:9,753,404...10,182,928
Ensembl chr16:9,753,404...10,182,928 Ensembl chr16:9,753,404...10,182,928
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GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
severity
IEP
RGD
PMID:25261450
RGD:13792687
NCBI chr12:13,537,337...13,982,012
Ensembl chr12:13,437,942...13,982,002 Ensembl chr12:13,437,942...13,982,002
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GSK3B
glycogen synthase kinase 3 beta
treatment
ISO
RGD
PMID:27118553
RGD:13792766
NCBI chr 3:119,821,321...120,095,823
Ensembl chr 3:119,821,323...120,094,417 Ensembl chr 3:119,821,323...120,094,417 Ensembl chr 3:119,821,323...120,094,417
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HSPA1A
heat shock protein family A (Hsp70) member 1A
IAGP
DNA:polymorphism: :-110A>C(human)
RGD
PMID:15832029
RGD:10402403
NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946
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HTRA1
HtrA serine peptidase 1
IAGP
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:24500651
NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
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IGF1
insulin like growth factor 1
severity
IEP ISO
mRNA,protein:decreased expression:hippocampus:
RGD
PMID:16181175 , PMID:22342912
RGD:1598446 , RGD:10045864
NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
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IGF1R
insulin like growth factor 1 receptor
IAGP
RGD
PMID:16983186
RGD:10045873
NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
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IL1B
interleukin 1 beta
IEP
protein:increased expression:plasma
RGD
PMID:16600299
RGD:1626633
NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
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ITM2B
integral membrane protein 2B
IAGP
ClinVar Annotator: match by term: Vascular dementia
ClinVar
NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
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KRIT1
KRIT1 ankyrin repeat containing
IAGP
ClinVar Annotator: match by term: Vascular dementia
ClinVar
NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,131,774...92,245,924 Ensembl chr 7:92,131,774...92,245,924
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LPA
lipoprotein(a)
IEP
protein:alternative form:plasma:presence of low molecular weight isoform(s) increased risk
RGD
PMID:15211075
RGD:5509891
NCBI chr 6:160,531,482...160,664,275
Ensembl chr 6:160,531,483...160,664,259 Ensembl chr 6:160,531,483...160,664,259
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MAPT
microtubule associated protein tau
treatment
ISO
RGD
PMID:27118553
RGD:13792766
NCBI chr17:45,894,538...46,028,334
Ensembl chr17:45,894,551...46,028,334 Ensembl chr17:45,894,551...46,028,334
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MMP2
matrix metallopeptidase 2
ISO
RGD
PMID:16385583
RGD:1582624
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MTOR
mechanistic target of rapamycin kinase
ISO
protein:decreased expression:hippocampus
RGD
PMID:23053837
RGD:10401142
NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
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NOTCH3
notch receptor 3
IAGP
ClinVar Annotator: match by term: Vascular dementia
ClinVar
PMID:26308724 PMID:26467025 PMID:27844030
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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NPPA
natriuretic peptide A
IAGP
ClinVar Annotator: match by term: Vascular dementia
ClinVar
NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
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PON2
paraoxonase 2
IAGP
DNA:missense mutation:cds:p.C311S (human)
RGD
PMID:11803456
RGD:1580219
NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329
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PSEN2
presenilin 2
IAGP
ClinVar Annotator: match by term: Vascular dementia
ClinVar
NCBI chr 1:226,870,594...226,903,829
Ensembl chr 1:226,870,184...226,896,105 Ensembl chr 1:226,870,184...226,896,105
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RPGRIP1L
RPGRIP1 like
susceptibility
IAGP
DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human)
RGD
PMID:22425971
RGD:13204815
NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
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RPS6
ribosomal protein S6
treatment
ISO
RGD
PMID:25767501
RGD:11041644
NCBI chr 9:19,375,715...19,380,236
Ensembl chr 9:19,375,715...19,380,236
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SDHAF1
succinate dehydrogenase complex assembly factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19465911
NCBI chr19:35,995,188...35,996,312
Ensembl chr19:35,995,188...35,996,312 Ensembl chr19:35,995,188...35,996,312
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SNCA
synuclein alpha
IEP
protein:increased expression:cerebrospinal fluid
RGD
PMID:18577885
RGD:6478792
NCBI chr 4:89,724,099...89,838,324
Ensembl chr 4:89,700,345...89,838,315 Ensembl chr 4:89,700,345...89,838,315
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SNCG
synuclein gamma
IEP
protein:increased expression:cerebrospinal fluid
RGD
PMID:18577885
RGD:6478792
NCBI chr10:86,955,759...86,963,260
Ensembl chr10:86,958,599...86,963,258
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SREBF2
sterol regulatory element binding transcription factor 2
IDA
DNA:SNPs, haplotype: :24489C>T, 34995G>T, 68891C>T (human)
RGD
PMID:16082694
RGD:1581412
NCBI chr22:41,833,105...41,907,308
Ensembl chr22:41,833,079...41,907,307
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SST
somatostatin
ISO
protein:decreased expression:brain
RGD
PMID:18925713
RGD:2303174
NCBI chr 3:187,668,912...187,670,394
Ensembl chr 3:187,668,912...187,670,394
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TMEM106B
transmembrane protein 106B
IAGP
ClinVar Annotator: match by term: Vascular dementia
ClinVar
NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367
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TNF
tumor necrosis factor
susceptibility
IAGP
DNA:polymorphism:promoter:-850C>T(human)
RGD
PMID:11273064
RGD:13825254
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TP53
tumor protein p53
ISO
protein:increased expression:brain
RGD
PMID:18083315
RGD:2290557
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 Ensembl chr17:7,661,779...7,687,538
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