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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
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Accession:DOID:13089 term browser 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.


show annotations for term's descendants           Sort by:
 
Amyloid Angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta (A4) precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31939705 NCBI chr16:84,952,666...85,175,255
Ensembl chr16:84,949,685...85,173,766
JBrowse link
APP-related cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta (A4) precursor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
CTD
ClinVar
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 chr16:84,952,666...85,175,255
Ensembl chr16:84,949,685...85,173,766
JBrowse link
arteriovenous malformations of the brain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor, type II-like 1 IEA OMIM:108010 MouseDO NCBI chr15:101,128,522...101,145,336
Ensembl chr15:101,128,522...101,145,336
JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr13:81,095,068...81,633,391
Ensembl chr13:81,095,068...81,633,154
JBrowse link
G Braf Braf transforming gene ISO 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:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
G Cacna1h calcium channel, voltage-dependent, T type, alpha 1H subunit ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr17:25,374,285...25,436,334
Ensembl chr17:25,374,285...25,433,783
JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:16,588,877...16,809,246
Ensembl chr18:16,588,877...16,809,246
JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:16,752,203...16,913,907
Ensembl chr11:16,752,203...16,918,158
JBrowse link
G Eng endoglin disease_progression ISO
IEA
IMP
DNA:polymorphism: : 207G>A(human)
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
OMIM:108010
ClinVar
MouseDO
PMID:25741868, PMID:24876084, PMID:24520391 RGD:11041171, RGD:11041564 NCBI chr 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 5:147,561,604...147,726,438
Ensembl chr 5:147,561,604...147,726,011
JBrowse link
G Gli2 GLI-Kruppel family member GLI2 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr 1:118,834,061...119,054,405
Ensembl chr 1:118,834,132...119,053,619
JBrowse link
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 NCBI chr14:27,038,964...27,107,286
Ensembl chr14:27,038,941...27,107,286
JBrowse link
G Il6 interleukin 6 ISO OMIM NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Kdr kinase insert domain protein receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 5:75,932,827...75,979,072
Ensembl chr 5:75,932,827...75,978,458
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO 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 chr 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
JBrowse link
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:120,923,411...120,979,396
Ensembl chr10:120,923,413...120,979,332
JBrowse link
G Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 1:39,900,902...40,026,310
Ensembl chr 1:39,900,913...40,026,310
JBrowse link
G Notch4 notch 4 IMP
IEA
OMIM:108010 MouseDO PMID:19546852 RGD:6480671 NCBI chr17:34,564,286...34,588,543
Ensembl chr17:34,564,268...34,588,503
JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:75,516,490...75,556,852
Ensembl chr 3:75,516,490...75,556,856
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:72,047,528...72,135,889
Ensembl chr11:72,047,528...72,135,778
JBrowse link
G Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 1:10,993,273...11,303,683
Ensembl chr 1:10,993,465...11,303,681
JBrowse link
G Sars seryl-aminoacyl-tRNA synthetase ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 3:108,424,864...108,445,259
Ensembl chr 3:108,424,865...108,445,209
JBrowse link
G Scube2 signal peptide, CUB domain, EGF-like 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:109,798,690...109,865,679
Ensembl chr 7:109,798,676...109,865,679
JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:86,048,746...86,498,926
Ensembl chr10:86,055,125...86,498,896
JBrowse link
G Timp3 tissue inhibitor of metalloproteinase 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:86,300,412...86,349,505
Ensembl chr10:86,300,372...86,349,506
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Zfyve16 zinc finger, FYVE domain containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr13:92,487,749...92,530,810
Ensembl chr13:92,487,108...92,530,868
JBrowse link
CADASIL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:130,936,203...130,985,658
Ensembl chr 7:130,936,111...130,985,660
JBrowse link
G Notch3 notch 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CTD
ClinVar
PMID:15229130 PMID:25741868 PMID:26467025 NCBI chr17:32,120,820...32,166,896
Ensembl chr17:32,120,820...32,166,852
JBrowse link
CADASIL 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch 3 ISO
IEA
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:125310
OMIM
ClinVar
MouseDO
PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 PMID:10712431 PMID:10716263 PMID:10854111 PMID:10969905 PMID:11102981 PMID:11486103 PMID:11559313 PMID:11571335 PMID:11706120 PMID:11715067 PMID:11755616 PMID:11757773 PMID:11771160 PMID:11784372 PMID:12136071 PMID:12146805 PMID:12196662 PMID:12482954 PMID:12721871 PMID:12754354 PMID:12810003 PMID:12821756 PMID:12821764 PMID:12861102 PMID:14714274 PMID:15229130 PMID:15287509 PMID:15350543 PMID:15364702 PMID:15378071 PMID:15694192 PMID:15776792 PMID:15827866 PMID:15834039 PMID:15857853 PMID:15981641 PMID:15995828 PMID:16009764 PMID:16580020 PMID:16717210 PMID:16730748 PMID:16864835 PMID:17122431 PMID:17323840 PMID:17390743 PMID:17879447 PMID:18765654 PMID:18803652 PMID:18948701 PMID:19006080 PMID:19043263 PMID:19174371 PMID:19180562 PMID:19242647 PMID:19245392 PMID:19252787 PMID:19259619 PMID:19293235 PMID:19359623 PMID:19417009 PMID:19528524 PMID:19542611 PMID:19576955 PMID:19825845 PMID:20038773 PMID:20071773 PMID:20167921 PMID:20301673 PMID:20851625 PMID:20857162 PMID:20935329 PMID:20981092 PMID:21387384 PMID:21555590 PMID:21616505 PMID:21737310 PMID:21852154 PMID:21940951 PMID:22006983 PMID:22019870 PMID:22082899 PMID:22153900 PMID:22159056 PMID:22218279 PMID:22367839 PMID:22373597 PMID:22623959 PMID:22664156 PMID:22795385 PMID:22878905 PMID:22936449 PMID:23025651 PMID:23412372 PMID:23584202 PMID:23602593 PMID:23639391 PMID:23649698 PMID:23844775 PMID:23847153 PMID:24033266 PMID:24086431 PMID:24139282 PMID:24344756 PMID:24425116 PMID:24886907 PMID:24929957 PMID:24936512 PMID:25260786 PMID:25326637 PMID:25344745 PMID:25412914 PMID:25604251 PMID:25623805 PMID:25741868 PMID:25801821 PMID:25819272 PMID:25834748 PMID:25870235 PMID:25929831 PMID:25973016 PMID:25980907 PMID:26002683 PMID:26261665 PMID:26270344 PMID:26308724 PMID:26368811 PMID:26467025 PMID:26646783 PMID:26715087 PMID:26806700 PMID:26850715 PMID:26856460 PMID:26889213 PMID:26894465 PMID:27174004 PMID:27293347 PMID:27350778 PMID:27423596 PMID:27770446 PMID:27844030 PMID:27881154 PMID:27884173 PMID:27890607 PMID:28334938 PMID:28479817 PMID:28492532 PMID:28601945 PMID:28710804 PMID:28991717 PMID:29188607 PMID:29449082 PMID:29980472 PMID:30311053 PMID:30402942 PMID:30956055 PMID:31028544 PMID:32581362 NCBI chr17:32,120,820...32,166,896
Ensembl chr17:32,120,820...32,166,852
JBrowse link
CADASIL 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ClinVar
OMIM
PMID:19387015 PMID:25741868 PMID:26063658 PMID:30981321 PMID:32101834 PMID:32581362 NCBI chr 7:130,936,203...130,985,658
Ensembl chr 7:130,936,111...130,985,660
JBrowse link
cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aoc3 amine oxidase, copper containing 3 ISO associated with Alzheimer Disease;protein:increased expression:brain RGD PMID:17393059 RGD:2313919 NCBI chr11:101,330,606...101,339,430
Ensembl chr11:101,330,605...101,341,938
JBrowse link
G Apoa1 apolipoprotein A-I IMP RGD PMID:20739292 RGD:5508213 NCBI chr 9:46,228,630...46,230,469
Ensembl chr 9:46,228,580...46,230,466
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:11061249 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G App amyloid beta (A4) precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21520056 NCBI chr16:84,952,666...85,175,255
Ensembl chr16:84,949,685...85,173,766
JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:21107133 RGD:5148012 NCBI chr18:15,389,394...15,410,982
Ensembl chr18:15,389,496...15,410,982
JBrowse link
G Ccr1 chemokine (C-C motif) receptor 1 ISO RGD PMID:14595653 RGD:5688166 NCBI chr 9:123,962,126...123,968,692
Ensembl chr 9:123,962,124...123,968,692
JBrowse link
G Itm2b integral membrane protein 2B IEA MouseDO NCBI chr14:73,362,226...73,385,289
Ensembl chr14:73,362,226...73,385,289
JBrowse link
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 3:63,295,211...63,383,713
Ensembl chr 3:63,241,537...63,386,030
JBrowse link
G Olr1 oxidized low density lipoprotein (lectin-like) receptor 1 ISO RGD PMID:16328515 RGD:1580993 NCBI chr 6:129,479,150...129,507,350
Ensembl chr 6:129,485,244...129,507,165
JBrowse link
G Psen1 presenilin 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr12:83,688,152...83,735,095
Ensembl chr12:83,688,152...83,735,199
JBrowse link
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: CARASIL
ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease
ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
ClinVar Annotator: match by OMIM:600142
OMIM
ClinVar
PMID:11889251 PMID:18316707 PMID:19387015 PMID:21115960 PMID:21482952 PMID:22900900 PMID:23963851 PMID:24500651 PMID:24535794 PMID:25741868 PMID:25770224 PMID:25772074 PMID:25957642 PMID:26063658 PMID:26467025 PMID:27164673 PMID:32101834 PMID:32581362 NCBI chr 7:130,936,203...130,985,658
Ensembl chr 7:130,936,111...130,985,660
JBrowse link
CST3-related cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta (A4) precursor protein ISO ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis ClinVar PMID:25741868 NCBI chr16:84,952,666...85,175,255
Ensembl chr16:84,949,685...85,173,766
JBrowse link
G 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:18566660 PMID:25741868 NCBI chr 2:148,871,722...148,875,512
Ensembl chr 2:148,871,722...148,875,692
JBrowse link
intracranial aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO associated with Diabetes Mellitus, Experimental RGD PMID:23844137 RGD:8547935 NCBI chr17:34,597,460...34,600,937
Ensembl chr17:34,597,862...34,600,936
JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO protein:decreased expression:cerebral artery RGD PMID:18312104 RGD:2313912 NCBI chr11:101,330,606...101,339,430
Ensembl chr11:101,330,605...101,341,938
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 treatment ISO RGD PMID:25316629 RGD:11522723 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO mRNA:increased expression:circle of Willis (rat) RGD PMID:19164781, PMID:25316629 RGD:2307000, RGD:11522723 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO RGD PMID:14739420 RGD:1581199 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Col22a1 collagen, type XXII, alpha 1 susceptibility ISO DNA:SNPs:cds:multiple(human) RGD PMID:30541770 RGD:13831344 NCBI chr15:71,795,795...72,150,979
Ensembl chr15:71,795,795...72,034,227
JBrowse link
G Cst3 cystatin C ISO mRNA, protein:decreased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 2:148,871,722...148,875,512
Ensembl chr 2:148,871,722...148,875,692
JBrowse link
G Ctsb cathepsin B 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 chr14:63,122,462...63,145,923
Ensembl chr14:63,122,462...63,145,923
JBrowse link
G Ctsk cathepsin K ISO mRNA, protein:increased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 3:95,499,210...95,509,387
Ensembl chr 3:95,499,256...95,509,362
JBrowse link
G Ctss cathepsin S ISO mRNA, protein:increased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 3:95,526,786...95,556,405
Ensembl chr 3:95,526,786...95,556,403
JBrowse link
G Eln elastin ISO RGD PMID:15218274 RGD:1580328 NCBI chr 5:134,702,595...134,747,368
Ensembl chr 5:134,702,593...134,747,323
JBrowse link
G Eng endoglin ISO RGD PMID:10223461 RGD:1580964 NCBI chr 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Brain Aneurysm ClinVar PMID:16835936 PMID:19006240 PMID:25525159 PMID:25741868 PMID:26038974 PMID:28492532 NCBI chr18:58,008,623...58,210,572
Ensembl chr18:58,008,623...58,210,487
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:16648144 RGD:1580488 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Mmp12 matrix metallopeptidase 12 no_association ISO RGD PMID:11546917 RGD:1582365 NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499
JBrowse link
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) ISO RGD PMID:9724118 RGD:1582590 NCBI chr14:54,431,598...54,442,456
Ensembl chr14:54,431,612...54,445,364
JBrowse link
G Mmp2 matrix metallopeptidase 2 susceptibility ISO mRNA:increased expression:blood vessel RGD PMID:17569872, PMID:16961137, PMID:9724118 RGD:2290352, RGD:1582646, RGD:1582590 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment
susceptibility
ISO 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 chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19381132 NCBI chr 5:134,220,053...134,229,628
Ensembl chr 5:134,220,053...134,229,625
JBrowse link
G Nos1 nitric oxide synthase 1, neuronal IMP RGD PMID:21321533 RGD:5131897 NCBI chr 5:117,866,839...117,958,840
Ensembl chr 5:117,781,032...117,958,840
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO
IMP
RGD PMID:21321533, PMID:21321533 RGD:5131897, RGD:5131897 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Pkd1 polycystin 1, transient receptor poteintial channel interacting susceptibility ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Intracranial aneurysm
ClinVar PMID:25741868, PMID:12842373 RGD:1580867 NCBI chr17:24,548,689...24,596,514
Ensembl chr17:24,549,834...24,596,508
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr 5:104,453,982...104,505,819
Ensembl chr 5:104,459,450...104,505,819
JBrowse link
G Plau plasminogen activator, urokinase IDA RGD PMID:21786025 RGD:6483795 NCBI chr14:20,836,662...20,843,388
Ensembl chr14:20,836,660...20,843,385
JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 ISO RGD PMID:17569872 RGD:2290352 NCBI chr  X:20,870,166...20,874,737
Ensembl chr  X:20,870,166...20,874,735
JBrowse link
G Timp2 tissue inhibitor of metalloproteinase 2 ISO mRNA:increased expression:blood vessel RGD PMID:17569872 RGD:2290352 NCBI chr11:118,301,061...118,355,411
Ensembl chr11:118,301,069...118,355,740
JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:24628611 RGD:10450592 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Vcan versican ISO DNA:SNP: :rs173686 (human) RGD PMID:16917090 RGD:1598495 NCBI chr13:89,655,309...89,743,027
Ensembl chr13:89,655,312...89,742,509
JBrowse link
Intracranial Berry Aneurysm 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thsd1 thrombospondin, type I, domain 1 ISO ClinVar Annotator: match by term: ANEURYSM, INTRACRANIAL BERRY, 12 ClinVar
OMIM
NCBI chr 8:22,220,938...22,262,957
Ensembl chr 8:22,227,313...22,261,334
JBrowse link
ITM2B-related cerebral amyloid angiopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by OMIM:176500 OMIM
ClinVar
PMID:10391242 PMID:21610757, PMID:11159188 RGD:1358403 NCBI chr14:73,362,226...73,385,289
Ensembl chr14:73,362,226...73,385,289
JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
ClinVar Annotator: match by OMIM:117300
OMIM
ClinVar
PMID:5457846 PMID:10781099 PMID:25741868 NCBI chr14:73,362,226...73,385,289
Ensembl chr14:73,362,226...73,385,289
JBrowse link
middle cerebral artery infarction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 treatment ISO RGD PMID:23149556, PMID:24602692 RGD:12790979, RGD:12791996 NCBI chr 7:46,104,523...46,180,039
Ensembl chr 7:46,104,523...46,180,033
JBrowse link
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 treatment ISO RGD PMID:24471927 RGD:11039026 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Ace2 angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 ISO mRNA, protein:increased expression:brain RGD PMID:24090950 RGD:9685436 NCBI chr  X:164,139,342...164,188,418
Ensembl chr  X:164,139,332...164,188,420
JBrowse link
G Adora1 adenosine A1 receptor ISO CTD Direct Evidence: therapeutic CTD PMID:23437309 NCBI chr 1:134,199,215...134,235,457
Ensembl chr 1:134,199,223...134,235,431
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO associated with Diabetes Mellitus, Experimental
CTD Direct Evidence: marker/mechanism
CTD PMID:25446913, PMID:24211797 RGD:8696008 NCBI chr17:34,597,460...34,600,937
Ensembl chr17:34,597,862...34,600,936
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO protein:increased expression:brain, serum RGD PMID:24090950 RGD:9685436 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Aifm1 apoptosis-inducing factor, mitochondrion-associated 1 ISO protein:altered localization: : RGD PMID:15181376 RGD:10047403 NCBI chr  X:48,474,944...48,513,563
Ensembl chr  X:48,474,944...48,513,563
JBrowse link
G Ak1 adenylate kinase 1 ISO protein:decreased expression:cerebral cortex (rat) RGD PMID:16468349 RGD:5508760 NCBI chr 2:32,621,758...32,635,058
Ensembl chr 2:32,621,758...32,635,058
JBrowse link
G Alb albumin treatment ISO RGD PMID:22227456 RGD:11036100 NCBI chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19309543 NCBI chr 6:116,410,071...116,461,178
Ensembl chr 6:116,410,077...116,461,178
JBrowse link
G Ap2b1 adaptor-related protein complex 2, beta 1 subunit ISO protein:increased degradation:brain RGD PMID:19240038 RGD:13461853 NCBI chr11:83,298,719...83,405,035
Ensembl chr11:83,299,024...83,405,035
JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 treatment ISO RGD PMID:24012531 RGD:13703113 NCBI chr10:90,989,311...91,082,743
Ensembl chr10:90,989,311...91,082,770
JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:19623195 RGD:6903926 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G App amyloid beta (A4) precursor protein treatment ISO RGD PMID:28963051 RGD:13782054 NCBI chr16:84,952,666...85,175,255
Ensembl chr16:84,949,685...85,173,766
JBrowse link
G Aqp4 aquaporin 4 treatment ISO RGD PMID:20815926 RGD:8695955 NCBI chr18:15,389,394...15,410,982
Ensembl chr18:15,389,496...15,410,982
JBrowse link
G Arc activity regulated cytoskeletal-associated protein ISO RGD PMID:22645329 RGD:10395314 NCBI chr15:74,669,081...74,672,570
Ensembl chr15:74,669,083...74,672,570
JBrowse link
G Atf3 activating transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 1:191,170,296...191,183,333
Ensembl chr 1:191,170,296...191,218,039
JBrowse link
G Bad BCL2-associated agonist of cell death treatment ISO RGD PMID:22200499, PMID:21891976 RGD:10053665, RGD:10053704 NCBI chr19:6,941,861...6,951,905
Ensembl chr19:6,941,861...6,951,899
JBrowse link
G Bax BCL2-associated X protein treatment ISO RGD PMID:23143152 RGD:10054501 NCBI chr 7:45,461,695...45,466,903
Ensembl chr 7:45,461,697...45,466,898
JBrowse link
G Bcan brevican ISO RGD PMID:15869933 RGD:9590118 NCBI chr 3:87,987,531...88,002,175
Ensembl chr 3:87,987,531...88,000,230
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 treatment ISO RGD PMID:23143152 RGD:10054501 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
JBrowse link
G Bdnf brain derived neurotrophic factor treatment ISO RGD PMID:20417695 RGD:4891138 NCBI chr 2:109,674,700...109,727,043
Ensembl chr 2:109,674,700...109,727,007
JBrowse link
G Becn1 beclin 1, autophagy related treatment ISO RGD PMID:22108007 RGD:11561900 NCBI chr11:101,288,258...101,302,286
Ensembl chr11:101,285,952...101,302,286
JBrowse link
G Bnip3 BCL2/adenovirus E1B interacting protein 3 ISO protein:increased expression:brain RGD PMID:17379825 RGD:9685412 NCBI chr 7:138,890,836...138,909,506
Ensembl chr 7:138,890,836...138,909,519
JBrowse link
G Bnip3l BCL2/adenovirus E1B interacting protein 3-like ISO RGD PMID:15902200, PMID:21029239 RGD:2314138, RGD:9068917 NCBI chr14:66,985,238...67,008,877
Ensembl chr14:66,985,239...67,008,877
JBrowse link
G C3 complement component 3 ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD PMID:23199288, PMID:22103620 RGD:7175514 NCBI chr17:57,203,967...57,228,136
Ensembl chr17:57,203,970...57,228,136
JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO RGD PMID:14688616 RGD:1358416 NCBI chr18:60,925,307...60,988,152
Ensembl chr18:60,925,618...60,988,152
JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:21891976, PMID:26868427, PMID:23143152 RGD:10053704, RGD:13782346, RGD:10054501 NCBI chr 8:46,617,291...46,639,698
Ensembl chr 8:46,617,291...46,639,689
JBrowse link
G Casp9 caspase 9 treatment ISO RGD PMID:26868427 RGD:13782346 NCBI chr 4:141,793,612...141,815,978
Ensembl chr 4:141,793,612...141,815,976
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:12374626 PMID:23043544 PMID:25257527 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccl7 chemokine (C-C motif) ligand 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr11:82,045,712...82,047,525
Ensembl chr11:82,045,712...82,047,525
JBrowse link
G Cd36 CD36 molecule treatment IMP RGD PMID:25216018 RGD:11041113 NCBI chr 5:17,781,690...17,888,959
Ensembl chr 5:17,781,690...17,888,801
JBrowse link
G Cd86 CD86 antigen ISO protein:increased expression:brain subventricular zone, microglial cell (rat) RGD PMID:19053043 RGD:2313025 NCBI chr16:36,568,956...36,666,158
Ensembl chr16:36,603,869...36,666,081
JBrowse link
G Cdk5 cyclin-dependent kinase 5 IMP RGD PMID:24920629 RGD:13782375 NCBI chr 5:24,407,597...24,423,587
Ensembl chr 5:24,418,241...24,423,530
JBrowse link
G Cldn5 claudin 5 treatment ISO RGD PMID:24842554 RGD:13204729 NCBI chr16:18,776,847...18,778,262
Ensembl chr16:18,776,847...18,778,262
JBrowse link
G Crh corticotropin releasing hormone ISO protein:decreased expression:median eminence of hypothalamus (rat) RGD PMID:21741032 RGD:5490538 NCBI chr 3:19,693,401...19,695,396
Ensembl chr 3:19,693,401...19,695,396
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO RGD PMID:15545914 RGD:9585995 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Crtc1 CREB regulated transcription coactivator 1 treatment ISO RGD PMID:20417695 RGD:4891138 NCBI chr 8:70,382,352...70,439,702
Ensembl chr 8:70,382,355...70,439,579
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) treatment ISO mRNA, protein:increased expression:brain: RGD PMID:19298757, PMID:15530654 RGD:11039420, RGD:11039425 NCBI chr11:98,700,183...98,703,631
Ensembl chr11:98,701,263...98,703,629
JBrowse link
G Cxcl10 chemokine (C-X-C motif) ligand 10 ISO RGD PMID:10825390 RGD:632989 NCBI chr 5:92,346,638...92,348,889
Ensembl chr 5:92,346,638...92,348,889
JBrowse link
G Cxcl2 chemokine (C-X-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 5:90,903,899...90,905,938
Ensembl chr 5:90,903,871...90,905,938
JBrowse link
G Cxcr2 chemokine (C-X-C motif) receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 1:74,153,994...74,161,246
Ensembl chr 1:74,153,989...74,161,246
JBrowse link
G Cxcr3 chemokine (C-X-C motif) receptor 3 ISO mRNA:increased expression:cerebral cortex RGD PMID:10825390 RGD:632989 NCBI chr  X:101,731,535...101,734,147
Ensembl chr  X:101,731,535...101,734,269
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO RGD PMID:23002367 RGD:14700877 NCBI chr 7:140,763,819...140,774,990
Ensembl chr 7:140,763,739...140,774,987
JBrowse link
G Dnmt1 DNA methyltransferase (cytosine-5) 1 IMP RGD PMID:11726790 RGD:9588643 NCBI chr 9:20,907,206...20,959,888
Ensembl chr 9:20,907,209...20,959,888
JBrowse link
G Dnmt3a DNA methyltransferase 3A ISO RGD PMID:23516428 RGD:9589049 NCBI chr12:3,801,559...3,914,443
Ensembl chr12:3,806,007...3,914,443
JBrowse link
G Dynll1 dynein light chain LC8-type 1 ISO RGD PMID:9522364 RGD:13208524 NCBI chr 5:115,297,110...115,300,990
Ensembl chr 5:115,297,110...115,300,999
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17197033 NCBI chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:22645329 RGD:10395314 NCBI chr18:34,861,207...34,864,956
Ensembl chr18:34,859,823...34,864,984
JBrowse link
G Egr2 early growth response 2 ISO RGD PMID:22645329 RGD:10395314 NCBI chr10:67,534,469...67,542,188
Ensembl chr10:67,535,475...67,542,188
JBrowse link
G Egr4 early growth response 4 ISO RGD PMID:22645329 RGD:10395314 NCBI chr 6:85,511,121...85,513,589
Ensembl chr 6:85,511,121...85,513,589
JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2, subunit 1 alpha treatment ISO RGD PMID:23669639, PMID:19763736 RGD:10395346, RGD:10755569 NCBI chr12:78,862,072...78,887,010
Ensembl chr12:78,861,819...78,887,010
JBrowse link
G Elane elastase, neutrophil expressed treatment ISO RGD PMID:10700596 RGD:10450546 NCBI chr10:79,886,312...79,888,216
Ensembl chr10:79,886,247...79,888,215
JBrowse link
G Eng endoglin IMP RGD PMID:24876084 RGD:11041171 NCBI chr 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
JBrowse link
G Epcam epithelial cell adhesion molecule ISO RGD PMID:15950761 RGD:11038820 NCBI chr17:87,635,979...87,651,127
Ensembl chr17:87,635,979...87,651,129
JBrowse link
G Epn1 epsin 1 ISO protein:increased degradation:brain RGD PMID:19240038 RGD:13461853 NCBI chr 7:5,080,137...5,098,179
Ensembl chr 7:5,080,235...5,098,178
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:20833153, PMID:20547143 RGD:10400898, RGD:10401066 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 ISO RGD PMID:9974119 RGD:10401103 NCBI chr14:32,513,291...32,580,990
Ensembl chr14:32,513,521...32,580,990
JBrowse link
G F11 coagulation factor XI IMP RGD PMID:16533887 RGD:11041786 NCBI chr 8:45,240,659...45,262,055
Ensembl chr 8:45,241,174...45,262,031
JBrowse link
G F12 coagulation factor XII (Hageman factor) treatment IMP
ISO
RGD PMID:16533887, PMID:16533887 RGD:11041786, RGD:11041786 NCBI chr13:55,417,958...55,426,804
Ensembl chr13:55,417,958...55,426,793
JBrowse link
G F2 coagulation factor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:29651748 NCBI chr 2:91,612,397...91,636,457
Ensembl chr 2:91,625,320...91,636,414
JBrowse link
G Fadd Fas (TNFRSF6)-associated via death domain treatment IEP
ISO
RGD PMID:18950622, PMID:23378241 RGD:11341807, RGD:11344885 NCBI chr 7:144,578,323...144,582,441
Ensembl chr 7:144,577,318...144,582,463
JBrowse link
G Fgf21 fibroblast growth factor 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 7:45,613,890...45,615,490
Ensembl chr 7:45,613,886...45,615,490
JBrowse link
G Fos FBJ osteosarcoma oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr12:85,473,890...85,477,274
Ensembl chr12:85,473,890...85,477,273
JBrowse link
G Gabra6 gamma-aminobutyric acid (GABA) A receptor, subunit alpha 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr11:42,306,437...42,321,072
Ensembl chr11:42,306,437...42,321,072
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:25882840 RGD:13792686 NCBI chr 6:125,161,852...125,166,467
Ensembl chr 6:125,161,715...125,166,467
JBrowse link
G Ghrl ghrelin treatment ISO RGD PMID:19352052 RGD:9850083 NCBI chr 6:113,716,119...113,719,911
Ensembl chr 6:113,716,119...113,719,880
JBrowse link
G Ghsr growth hormone secretagogue receptor ISO RGD PMID:19352052 RGD:9850083 NCBI chr 3:27,371,351...27,379,235
Ensembl chr 3:27,371,351...27,378,010
JBrowse link
G Grin1 glutamate receptor, ionotropic, NMDA1 (zeta 1) treatment ISO RGD PMID:26674869 RGD:11068571 NCBI chr 2:25,291,177...25,319,187
Ensembl chr 2:25,291,181...25,319,187
JBrowse link
G Grn granulin treatment IEP RGD PMID:23972823 RGD:10401661 NCBI chr11:102,430,507...102,436,809
Ensembl chr11:102,430,315...102,437,048
JBrowse link
G Grpel1 GrpE-like 1, mitochondrial ISO mRNA:increased expression:cerebral cortex RGD PMID:12505684 RGD:632868 NCBI chr 5:36,465,185...36,474,077
Ensembl chr 5:36,464,998...36,474,080
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment ISO RGD PMID:28440874 RGD:13792734 NCBI chr16:38,089,001...38,246,084
Ensembl chr16:38,089,001...38,246,084
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO mRNA, protein:increased expression:cerebral cortex, hippocampus, corpus striatum RGD PMID:21957487 RGD:11041635 NCBI chr 7:30,942,368...30,944,029
Ensembl chr 7:30,942,368...30,944,032
JBrowse link
G Has2 hyaluronan synthase 2 ISO mRNA:increased expression:brain RGD PMID:11283406 RGD:9588631 NCBI chr15:56,665,627...56,694,546
Ensembl chr15:56,665,627...56,694,539
JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO mRNA,protein:decreased expression:brain: RGD PMID:23480850 RGD:9681449 NCBI chr 1:91,928,779...92,195,702
Ensembl chr 1:91,928,779...92,195,699
JBrowse link
G Hdac5 histone deacetylase 5 treatment ISO mRNA,protein:decreased expression:brain: RGD PMID:23480850 RGD:9681449 NCBI chr11:102,195,747...102,230,172
Ensembl chr11:102,194,432...102,230,166
JBrowse link
G Hdac9 histone deacetylase 9 ISO mRNA:increased expression:brain: RGD PMID:23480850 RGD:9681449 NCBI chr12:34,047,580...34,917,095
Ensembl chr12:34,047,580...34,917,095
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit treatment ISO RGD PMID:21029239 RGD:9068917 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Hmgb1 high mobility group box 1 treatment ISO RGD PMID:23480850 RGD:9681449 NCBI chr 5:149,046,702...149,053,057
Ensembl chr 5:149,046,702...149,184,489
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO RGD PMID:24252362, PMID:23870531, PMID:20888632 RGD:10755587, RGD:10755755, RGD:10755588 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Hp haptoglobin ISO RGD PMID:22103620 RGD:7175514 NCBI chr 8:109,575,128...109,579,172
Ensembl chr 8:109,575,128...109,579,172
JBrowse link
G Hspa4 heat shock protein 4 ISO
IDA
rat gene in mouse model RGD PMID:17473852, PMID:21709150 RGD:5688754, RGD:6218961 NCBI chr11:53,259,814...53,300,479
Ensembl chr11:53,259,814...53,300,457
JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 1:55,077,833...55,088,243
Ensembl chr 1:55,077,835...55,088,243
JBrowse link
G Htra2 HtrA serine peptidase 2 ISO
IEP
protein:increased expression:brain, cytosol (rat)
protein:increased expression:brain, cytosol (mouse)
RGD PMID:16978742, PMID:15306124 RGD:2314385, RGD:5688372 NCBI chr 6:83,051,266...83,054,571
Ensembl chr 6:83,051,266...83,055,273
JBrowse link
G Hvcn1 hydrogen voltage-gated channel 1 ISO RGD PMID:31250553 RGD:14985213 NCBI chr 5:122,206,805...122,242,297
Ensembl chr 5:122,206,804...122,242,297
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Ikbkb inhibitor of kappaB kinase beta treatment IMP RGD PMID:16286924 RGD:10045955 NCBI chr 8:22,659,205...22,706,589
Ensembl chr 8:22,659,212...22,706,589
JBrowse link
G Il11 interleukin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 7:4,772,373...4,782,907
Ensembl chr 7:4,772,373...4,782,859
JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:cerebral cortex RGD PMID:23028794 RGD:7204480 NCBI chr11:53,631,323...53,634,702
Ensembl chr11:53,631,324...53,634,702
JBrowse link
G Il1b interleukin 1 beta treatment ISO 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 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human gene in a rat model RGD PMID:7790404 RGD:8551708 NCBI chr 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
JBrowse link
G Il22b interleukin 22B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr10:118,289,629...118,295,038
Ensembl chr10:118,289,629...118,295,038
JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:cerebral cortex RGD PMID:23028794 RGD:7204480 NCBI chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G Il5 interleukin 5 ISO RGD PMID:23028794 RGD:7204480 NCBI chr11:53,720,794...53,725,103
Ensembl chr11:53,720,794...53,725,106
JBrowse link
G Il6 interleukin 6 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 PMID:21940958 PMID:25257527, PMID:29498696 RGD:13792833 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Il6ra interleukin 6 receptor, alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr 3:89,869,324...89,913,196
Ensembl chr 3:89,864,059...89,913,196
JBrowse link
G Il6st interleukin 6 signal transducer ISO CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr13:112,464,070...112,506,860
Ensembl chr13:112,464,070...112,510,086
JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha IEP RGD PMID:29967576 RGD:27226878 NCBI chr19:47,014,681...47,025,327
Ensembl chr19:47,014,698...47,025,327
JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:25652434 RGD:11530061 NCBI chr13:30,749,233...30,766,981
Ensembl chr13:30,749,226...30,766,976
JBrowse link
G Junb jun B proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 8:84,976,909...84,978,748
Ensembl chr 8:84,974,484...84,978,718
Ensembl chr 8:84,974,484...84,978,718
JBrowse link
G Mag myelin-associated glycoprotein treatment ISO RGD PMID:15678116 RGD:9685232 NCBI chr 7:30,899,175...30,914,922
Ensembl chr 7:30,899,176...30,914,873
JBrowse link
G Mapk1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:27152455 RGD:13800881 NCBI chr16:16,983,382...17,047,453
Ensembl chr16:16,983,382...17,047,453
JBrowse link
G Mapk3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:27152455 RGD:13800881 NCBI chr 7:126,759,626...126,765,816
Ensembl chr 7:126,759,601...126,765,819
JBrowse link
G Mapt microtubule-associated protein tau treatment ISO
IMP
RGD PMID:28886009, PMID:25903928, PMID:28886009 RGD:13800886, RGD:13800913, RGD:13800886 NCBI chr11:104,229,409...104,332,090
Ensembl chr11:104,231,390...104,332,090
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:19309543, PMID:24842554 RGD:13204729 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Mt3 metallothionein 3 ISO protein:decreased expression:brain RGD PMID:8869568 RGD:9685807 NCBI chr 8:94,152,607...94,154,148
Ensembl chr 8:94,152,607...94,154,146
JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment ISO RGD PMID:24583056, PMID:21185267, PMID:23777415 RGD:10040971, RGD:10041016, RGD:10040974 NCBI chr 4:148,448,582...148,557,685
Ensembl chr 4:148,448,611...148,557,683
JBrowse link
G Nae1 NEDD8 activating enzyme E1 subunit 1 ISO RGD PMID:21386696 RGD:13801046 NCBI chr 8:104,511,028...104,534,656
Ensembl chr 8:104,511,028...104,534,637
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase treatment ISO RGD PMID:28495827 RGD:13781880 NCBI chr12:32,820,335...32,853,369
Ensembl chr12:32,819,545...32,853,349
JBrowse link
G Ncam1 neural cell adhesion molecule 1 treatment ISO RGD PMID:32962079 RGD:40924633 NCBI chr 9:49,502,129...49,799,393
Ensembl chr 9:49,502,136...49,798,925
JBrowse link
G Nefh neurofilament, heavy polypeptide IEP RGD PMID:29967576 RGD:27226878 NCBI chr11:4,938,754...4,948,064
Ensembl chr11:4,938,754...4,948,064
JBrowse link
G Nefl neurofilament, light polypeptide IEP protein:increased expression:brain RGD PMID:29967576 RGD:27226878 NCBI chr14:68,083,863...68,089,095
Ensembl chr14:68,083,863...68,089,095
JBrowse link
G Nefm neurofilament, medium polypeptide IEP protein:altered expression:brain RGD PMID:29967576 RGD:27226878 NCBI chr14:68,119,545...68,125,004
Ensembl chr14:68,082,590...68,124,846
JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 treatment ISO RGD PMID:23880501, PMID:24466583 RGD:10412696, RGD:10412714 NCBI chr 2:75,675,513...75,704,663
Ensembl chr 2:75,675,513...75,704,641
JBrowse link
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha treatment ISO RGD PMID:21122797 RGD:10413868 NCBI chr12:55,489,409...55,492,647
Ensembl chr12:55,489,410...55,492,647
JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:10408807 NCBI chr 3:102,469,919...102,521,013
Ensembl chr 3:102,469,919...102,521,013
JBrowse link
G Ngfr nerve growth factor receptor (TNFR superfamily, member 16) treatment ISO RGD PMID:22678884 RGD:10413900 NCBI chr11:95,568,818...95,587,698
Ensembl chr11:95,568,818...95,587,735
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 treatment ISO RGD PMID:24842554 RGD:13204729 NCBI chr 8:88,647,315...88,688,474
Ensembl chr 8:88,647,315...88,688,474
JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO
IEP
protein:increased expression:brain (rat)
mRNA:increased expression:brain (mouse)
RGD PMID:21959178, PMID:22020035 RGD:5508751, RGD:5509037 NCBI chr11:78,920,787...78,960,226
Ensembl chr11:78,920,787...78,960,254
JBrowse link
G Nqo1 NAD(P)H dehydrogenase, quinone 1 treatment ISO protein:increased expression:brain RGD PMID:21120604, PMID:25069640 RGD:5133239, RGD:11035212 NCBI chr 8:107,388,225...107,403,205
Ensembl chr 8:107,388,225...107,403,206
JBrowse link
G Nrg1 neuregulin 1 treatment ISO RGD PMID:20691195 RGD:10449015 NCBI chr 8:31,807,452...32,891,609
Ensembl chr 8:31,814,551...32,884,797
JBrowse link
G Ogg1 8-oxoguanine DNA-glycosylase 1 treatment ISO associated with Hypertension RGD PMID:17920569 RGD:8657395 NCBI chr 6:113,326,972...113,334,877
Ensembl chr 6:113,326,972...113,335,068
JBrowse link
G Park7 Parkinson disease (autosomal recessive, early onset) 7 treatment ISO RGD PMID:17882163 RGD:13463450 NCBI chr 4:150,897,133...150,909,921
Ensembl chr 4:150,897,133...150,914,437
JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 treatment IMP
ISO
RGD PMID:21311064, PMID:25882840, PMID:23143152, PMID:23801245 RGD:5683909, RGD:13792686, RGD:10054501, RGD:11073732 NCBI chr 1:180,568,891...180,600,999
Ensembl chr 1:180,568,924...180,601,254
JBrowse link
G Pawr PRKC, apoptosis, WT1, regulator treatment IEP
ISO
IMP
protein:increased expression:brain: RGD PMID:16403464, PMID:19352052, PMID:11323519 RGD:9835380, RGD:9850083, RGD:9835381 NCBI chr10:108,332,189...108,414,391
Ensembl chr10:108,332,121...108,414,240
JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide treatment ISO RGD PMID:16917016 RGD:11084934 NCBI chr 5:75,151,322...75,198,206
Ensembl chr 5:75,152,292...75,198,215
JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide treatment ISO RGD PMID:16917016 RGD:11084934 NCBI chr18:61,045,127...61,085,067
Ensembl chr18:61,045,150...61,085,061
JBrowse link
G Plat plasminogen activator, tissue ISO CTD Direct Evidence: therapeutic CTD PMID:12297567 PMID:17690543 PMID:18453163 PMID:20547619 PMID:29651748, PMID:14512838 RGD:1580876 NCBI chr 8:22,757,722...22,782,848
Ensembl chr 8:22,757,727...22,782,844
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:11677890 PMID:15181847 PMID:17702958 NCBI chr14:20,836,662...20,843,388
Ensembl chr14:20,836,660...20,843,385
JBrowse link
G Pld1 phospholipase D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 3:27,938,459...28,133,362
Ensembl chr 3:27,938,695...28,133,362
JBrowse link
G Prkcg protein kinase C, gamma ISO RGD PMID:14688616 RGD:1358416 NCBI chr 7:3,303,532...3,331,099
Ensembl chr 7:3,289,179...3,331,099
JBrowse link
G Proc protein C treatment IMP RGD PMID:24159062 RGD:11100027 NCBI chr18:32,123,126...32,139,570
Ensembl chr18:32,123,126...32,139,570
JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z, polypeptide 1 ISO mRNA:increased expression:cerebral cortex RGD PMID:15869933 RGD:9590118 NCBI chr 6:22,875,315...23,052,916
Ensembl chr 6:22,875,502...23,052,916
JBrowse link
G Reln reelin severity IMP RGD PMID:16438965 RGD:13207538 NCBI chr 5:21,884,454...22,344,705
Ensembl chr 5:21,884,454...22,344,702
JBrowse link
G Rgma repulsive guidance molecule family member A treatment ISO RGD PMID:21840379, PMID:23275173 RGD:9850121, RGD:9850122 NCBI chr 7:73,375,520...73,419,899
Ensembl chr 7:73,375,509...73,419,899
JBrowse link
G Rpl28 ribosomal protein L28 ISO RGD PMID:16805800 RGD:6480229 NCBI chr 7:4,792,965...4,794,547
Ensembl chr 7:4,792,874...4,795,066
JBrowse link
G Runx1 runt related transcription factor 1 ISO mRNA:increased expression:brain RGD PMID:24672479 RGD:11251714 NCBI chr16:92,601,466...92,826,074
Ensembl chr16:92,601,466...92,826,149
JBrowse link
G S100a5 S100 calcium binding protein A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 3:90,606,480...90,611,784
Ensembl chr 3:90,608,523...90,611,780
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO RGD PMID:14512838 RGD:1580876 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 treatment ISO RGD PMID:22714093 RGD:8655545 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
G Serpinh1 serine (or cysteine) peptidase inhibitor, clade H, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 7:99,345,375...99,353,239
Ensembl chr 7:99,345,376...99,353,239
JBrowse link
G Shh sonic hedgehog treatment ISO RGD PMID:22324418 RGD:12879461 NCBI chr 5:28,456,840...28,467,101
Ensembl chr 5:28,456,815...28,467,256
JBrowse link
G Sirt1 sirtuin 1 treatment ISO
IMP
RGD PMID:23600725, PMID:23600725 RGD:9585664, RGD:9585664 NCBI chr10:63,319,005...63,339,035
Ensembl chr10:63,319,005...63,381,704
JBrowse link
G Slc12a2 solute carrier family 12, member 2 treatment ISO protein:increased expression:brain: RGD PMID:12535773, PMID:27798271 RGD:1580583, RGD:14398833 NCBI chr18:57,878,512...57,946,821
Ensembl chr18:57,878,678...57,946,821
JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 treatment ISO RGD PMID:9419067 RGD:12879855 NCBI chr 4:119,108,745...119,137,330
Ensembl chr 4:119,108,711...119,137,983
JBrowse link
G Slc9a1 solute carrier family 9 (sodium/hydrogen exchanger), member 1 treatment ISO RGD PMID:31250553 RGD:14985213 NCBI chr 4:133,369,711...133,423,702
Ensembl chr 4:133,369,706...133,423,702
JBrowse link
G Slpi secretory leukocyte peptidase inhibitor treatment ISO RGD PMID:14500739 RGD:9999390 NCBI chr 2:164,354,070...164,356,507
Ensembl chr 2:164,354,070...164,389,095
JBrowse link
G Smo smoothened, frizzled class receptor treatment ISO RGD PMID:23696546, PMID:23499832 RGD:12832759, RGD:12879404 NCBI chr 6:29,735,497...29,761,366
Ensembl chr 6:29,735,503...29,761,365
JBrowse link
G Smox spermine oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30576531 NCBI chr 2:131,491,858...131,525,183
Ensembl chr 2:131,491,496...131,525,922
JBrowse link
G Snap91 synaptosomal-associated protein 91 ISO protein:increased degradation:brain RGD PMID:19240038 RGD:13461853 NCBI chr 9:86,765,923...86,880,734
Ensembl chr 9:86,765,923...86,880,654
JBrowse link
G Sod1 superoxide dismutase 1, soluble treatment ISO mRNA, protein:increased expression:cerebral cortex (rat) RGD PMID:22001340, PMID:22133807 RGD:8657021, RGD:8657023 NCBI chr16:90,220,762...90,226,333
Ensembl chr16:90,220,754...90,226,329
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Sphk2 sphingosine kinase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:23043544 NCBI chr 7:45,709,463...45,718,002
Ensembl chr 7:45,709,467...45,718,002
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:31409163 RGD:14995477 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Th tyrosine hydroxylase ISO protein:decreased expression:substantia nigra pars compacta, neuron (rat) RGD PMID:21366664 RGD:5128609 NCBI chr 7:142,892,779...142,899,995
Ensembl chr 7:142,892,752...142,931,128
JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:24916922, PMID:15647744, PMID:29498696 RGD:10450594, RGD:13825261, RGD:13792833 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfaip6 tumor necrosis factor alpha induced protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 2:52,038,113...52,056,681
Ensembl chr 2:52,038,009...52,056,686
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO RGD PMID:15647744 RGD:13825261 NCBI chr 6:125,349,723...125,362,483
Ensembl chr 6:125,349,362...125,362,484
JBrowse link
G Upp1 uridine phosphorylase 1 ISO mRNA, protein:increased expression:brain (rat) RGD PMID:18457515 RGD:2317094 NCBI chr11:9,118,008...9,136,170
Ensembl chr11:9,118,103...9,136,170
JBrowse link
G Xdh xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr17:73,883,895...73,950,397
Ensembl chr17:73,883,895...73,950,196
JBrowse link
Moyamoya disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin, alpha 2, smooth muscle, aorta ISO
ISS
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 chr19:34,240,336...34,255,585
Ensembl chr19:34,241,090...34,255,590
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) ISO ClinVar Annotator: match by term: Moyamoya disease ClinVar NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Gucy1a1 guanylate cyclase 1, soluble, alpha 1 ISS OMIM:252350 | OMIM:300845 | OMIM:607151 | OMIM:608796 | OMIM:614042 | OMIM:615750 MouseDO NCBI chr 3:82,092,427...82,145,946
Ensembl chr 3:82,092,427...82,145,789
JBrowse link
G Rnf213 ring finger protein 213 ISS OMIM:252350 | OMIM:300845 | OMIM:607151 | OMIM:608796 | OMIM:614042 | OMIM:615750 MouseDO NCBI chr11:119,389,950...119,487,418
Ensembl chr11:119,393,100...119,487,418
JBrowse link
G Timp2 tissue inhibitor of metalloproteinase 2 ISO RGD PMID:16723886 RGD:1580650 NCBI chr11:118,301,061...118,355,411
Ensembl chr11:118,301,069...118,355,740
JBrowse link
Moyamoya Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy1a1 guanylate cyclase 1, soluble, alpha 1 ISO ClinVar Annotator: match by term: Moyamoya disease 1 ClinVar PMID:26777256 NCBI chr 3:82,092,427...82,145,946
Ensembl chr 3:82,092,427...82,145,789
JBrowse link
Moyamoya Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf213 ring finger protein 213 susceptibility ISO ClinVar Annotator: match by OMIM:607151
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 chr11:119,389,950...119,487,418
Ensembl chr11:119,393,100...119,487,418
JBrowse link
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome ClinVar PMID:24011989 PMID:25741868 NCBI chr  X:73,686,178...73,717,815
Ensembl chr  X:73,686,178...73,716,175
JBrowse link
G Slc6a8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 ISO ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome ClinVar PMID:24011989 NCBI chr  X:73,673,133...73,682,502
Ensembl chr  X:73,673,150...73,682,502
JBrowse link
Moyamoya Disease 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin, alpha 2, smooth muscle, aorta ISO ClinVar Annotator: match by term: Moyamoya disease 5 OMIM
ClinVar
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:28652363 PMID:29300374 PMID:30341550 NCBI chr19:34,240,336...34,255,585
Ensembl chr19:34,241,090...34,255,590
JBrowse link
Moyamoya Disease 6 with Achalasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy1a1 guanylate cyclase 1, soluble, alpha 1 ISO ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia ClinVar
OMIM
PMID:24581742 PMID:25741868 PMID:26777256 NCBI chr 3:82,092,427...82,145,946
Ensembl chr 3:82,092,427...82,145,789
JBrowse link
Multi-Infarct Dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta (A4) precursor protein ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:1677459 RGD:10054257 NCBI chr16:84,952,666...85,175,255
Ensembl chr16:84,949,685...85,173,766
JBrowse link
G Bax BCL2-associated X protein treatment ISO RGD PMID:18938189 RGD:10054050 NCBI chr 7:45,461,695...45,466,903
Ensembl chr 7:45,461,697...45,466,898
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 treatment ISO RGD PMID:18938189 RGD:10054050 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked treatment ISO RGD PMID:21279683 RGD:10449132 NCBI chr  X:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Il2 interleukin 2 severity ISO protein:increased secretion:mononuclear cell: RGD PMID:8586980 RGD:10047081 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
vascular dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta (A4) precursor protein ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:22312439 PMID:25104557 PMID:25174650 PMID:25604855 PMID:26242991 PMID:26467025 PMID:27312774 PMID:28492532 NCBI chr16:84,952,666...85,175,255
Ensembl chr16:84,949,685...85,173,766
JBrowse link
G Atp5a1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 ISO RGD PMID:24448401 RGD:14696801 NCBI chr18:77,773,768...77,782,869
Ensembl chr18:77,773,729...77,782,869
JBrowse link
G Avp arginine vasopressin ISO protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr 2:130,580,620...130,582,588
Ensembl chr 2:130,580,620...130,582,554
JBrowse link
G Bdnf brain derived neurotrophic factor treatment ISO RGD PMID:24622829 RGD:10059369 NCBI chr 2:109,674,700...109,727,043
Ensembl chr 2:109,674,700...109,727,007
JBrowse link
G C1rb complement component 1, r subcomponent B ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 NCBI chr 6:124,570,430...124,581,044
Ensembl chr 6:124,570,294...124,581,171
JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 NCBI chr 8:84,338,631...84,640,251
Ensembl chr 8:84,338,639...84,640,246
JBrowse link
G Ccm2 cerebral cavernous malformation 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr11:6,546,887...6,596,761
Ensembl chr11:6,546,887...6,596,744
JBrowse link
G Cdk5 cyclin-dependent kinase 5 treatment ISO RGD PMID:27118553 RGD:13792766 NCBI chr 5:24,407,597...24,423,587
Ensembl chr 5:24,418,241...24,423,530
JBrowse link
G Col4a1 collagen, type IV, alpha 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr 8:11,198,423...11,312,889
Ensembl chr 8:11,198,423...11,312,826
JBrowse link
G Col4a2 collagen, type IV, alpha 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr 8:11,312,805...11,449,287
Ensembl chr 8:11,312,805...11,449,287
JBrowse link
G Eif4e eukaryotic translation initiation factor 4E ISO protein:decreased expression:hippocampus RGD PMID:23053837 RGD:10401142 NCBI chr 3:138,526,191...138,559,696
Ensembl chr 3:138,526,179...138,559,696
JBrowse link
G Epo erythropoietin ISO RGD PMID:17037738 RGD:10400891 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 treatment ISO RGD PMID:22500404 RGD:10402076 NCBI chr 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
JBrowse link
G Flt1 FMS-like tyrosine kinase 1 treatment ISO RGD PMID:22500404 RGD:10402076 NCBI chr 5:147,561,604...147,726,438
Ensembl chr 5:147,561,604...147,726,011
JBrowse link
G Gclm glutamate-cysteine ligase, modifier subunit susceptibility ISO associated with stroke;DNA:polymorphism:promoter:-588C>T(human) RGD PMID:17548779 RGD:10402374 NCBI chr 3:122,245,487...122,267,215
Ensembl chr 3:122,245,557...122,270,732
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO RGD PMID:24968700 RGD:11352822 NCBI chr 9:108,339,080...108,340,342
Ensembl chr 9:108,338,903...108,340,343
JBrowse link
G Grin1 glutamate receptor, ionotropic, NMDA1 (zeta 1) ISO associated with Alzheimer's disease RGD PMID:25261450 RGD:13792687 NCBI chr 2:25,291,177...25,319,187
Ensembl chr 2:25,291,181...25,319,187
JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) ISO RGD PMID:25261450 RGD:13792687 NCBI chr16:9,567,901...9,996,083
Ensembl chr16:9,567,898...9,995,560
JBrowse link
G Grin2b glutamate receptor, ionotropic, NMDA2B (epsilon 2) severity ISO RGD PMID:25261450 RGD:13792687 NCBI chr 6:135,713,221...136,173,615
Ensembl chr 6:135,713,233...136,173,511
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment ISO RGD PMID:27118553 RGD:13792766 NCBI chr16:38,089,001...38,246,084
Ensembl chr16:38,089,001...38,246,084
JBrowse link
G Hspa1a heat shock protein 1A ISO DNA:polymorphism: :-110A>C(human) RGD PMID:15832029 RGD:10402403 NCBI chr17:34,969,359...34,972,156
Ensembl chr17:34,969,190...34,972,156
JBrowse link
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:24500651 NCBI chr 7:130,936,203...130,985,658
Ensembl chr 7:130,936,111...130,985,660
JBrowse link
G Igf1 insulin-like growth factor 1 severity ISO mRNA,protein:decreased expression:hippocampus: RGD PMID:16181175, PMID:22342912 RGD:1598446, RGD:10045864 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Igf1r insulin-like growth factor I receptor ISO RGD PMID:16983186 RGD:10045873 NCBI chr 7:67,952,257...68,233,668
Ensembl chr 7:67,952,827...68,233,668
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:plasma RGD PMID:16600299 RGD:1626633 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr14:73,362,226...73,385,289
Ensembl chr14:73,362,226...73,385,289
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr 5:3,803,156...3,844,515
Ensembl chr 5:3,803,184...3,845,564
JBrowse link
G Mapt microtubule-associated protein tau treatment ISO RGD PMID:27118553 RGD:13792766 NCBI chr11:104,229,409...104,332,090
Ensembl chr11:104,231,390...104,332,090
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:16385583 RGD:1582624 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO protein:decreased expression:hippocampus RGD PMID:23053837 RGD:10401142 NCBI chr 4:148,448,582...148,557,685
Ensembl chr 4:148,448,611...148,557,683
JBrowse link
G Notch3 notch 3 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:26308724 PMID:26467025 PMID:27844030 NCBI chr17:32,120,820...32,166,896
Ensembl chr17:32,120,820...32,166,852
JBrowse link
G Nppa natriuretic peptide type A ISO ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr 4:148,000,722...148,002,074
Ensembl chr 4:148,000,722...148,002,079
JBrowse link
G Pon2 paraoxonase 2 ISO DNA:missense mutation:cds:p.C311S (human) RGD PMID:11803456 RGD:1580219 NCBI chr 6:5,264,620...5,298,345
Ensembl chr 6:5,264,147...5,298,455
JBrowse link
G Psen2 presenilin 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr 1:180,227,004...180,263,467
Ensembl chr 1:180,227,004...180,263,438
JBrowse link
G Rpgrip1l Rpgrip1-like susceptibility ISO DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human) RGD PMID:22425971 RGD:13204815 NCBI chr 8:91,217,030...91,313,291
Ensembl chr 8:91,217,030...91,313,262
JBrowse link
G Rps6 ribosomal protein S6 treatment ISO RGD PMID:25767501 RGD:11041644 NCBI chr 4:86,854,099...86,857,367
Ensembl chr 4:86,854,660...86,857,412
JBrowse link
G Sdhaf1 succinate dehydrogenase complex assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19465911 NCBI chr 7:30,321,409...30,322,375
Ensembl chr 7:30,321,406...30,323,895
JBrowse link
G Snca synuclein, alpha ISO protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 NCBI chr 6:60,731,573...60,829,855
Ensembl chr 6:60,731,575...60,829,855
JBrowse link
G Sncg synuclein, gamma ISO protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 NCBI chr14:34,370,274...34,374,669
Ensembl chr14:34,370,274...34,374,789
JBrowse link
G Srebf2 sterol regulatory element binding factor 2 ISO DNA:SNPs, haplotype: :24489C>T, 34995G>T, 68891C>T (human) RGD PMID:16082694 RGD:1581412 NCBI chr15:82,147,269...82,205,379
Ensembl chr15:82,147,181...82,205,379
JBrowse link
G Sst somatostatin ISO protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr16:23,889,573...23,891,342
Ensembl chr16:23,889,573...23,890,958
JBrowse link
G Tmem106b transmembrane protein 106B ISO ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr 6:13,069,759...13,089,269
Ensembl chr 6:13,069,759...13,089,269
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-850C>T(human) RGD PMID:11273064 RGD:13825254 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Trp53 transformation related protein 53 ISO protein:increased expression:brain RGD PMID:18083315 RGD:2290557 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13465
    disease of anatomical entity 12944
      cardiovascular system disease 3551
        vascular disease 2578
          cerebrovascular disease 817
            intracranial arterial disease 250
              arteriovenous malformations of the brain + 25
              cerebral arterial disease + 197
              intracranial aneurysm + 30
              intracranial arteriosclerosis + 48
Path 2
Term Annotations click to browse term
  disease 13465
    disease of anatomical entity 12944
      nervous system disease 10487
        central nervous system disease 8822
          brain disease 8140
            cerebrovascular disease 817
              intracranial arterial disease 250
                arteriovenous malformations of the brain + 25
                cerebral arterial disease + 197
                intracranial aneurysm + 30
                intracranial arteriosclerosis + 48
paths to the root