Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
 xref: EFO:1000990
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 precursor protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:31939705 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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 precursor protein IAGP
EXP
ClinVar Annotator: match by term: AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED
ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related
ClinVar Annotator: match by term: AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED | ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1303172 PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 More... NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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 like type 1 ISS OMIM:108010 MouseDO NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G ADGRV1 adhesion G protein-coupled receptor V1 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G 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 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr16:1,153,106...1,221,768
Ensembl chr16:1,153,103...1,224,169
JBrowse link
G CDH2 cadherin 2 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946
JBrowse link
G 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
JBrowse link
G ENG endoglin disease_progression IAGP
ISS
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
OMIM:108010
DNA:polymorphism: : 207G>A(human)
ClinVar
MouseDO
RGD
PMID:15879500 PMID:25741868 PMID:28492532 PMID:30120215 PMID:16179574 More... RGD:1580962, RGD:11041564, RGD:11041171 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G IL17RD interleukin 17 receptor D IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
JBrowse link
G IL6 interleukin 6 EXP
IAGP
CTD Direct Evidence: marker/mechanism CTD
OMIM
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G 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
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP
ISS
EXP
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
OMIM:108010
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G 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
JBrowse link
G 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...101,894,690
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
JBrowse link
G NOTCH4 notch receptor 4 ISO
ISS
IAGP
OMIM:108010
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
MouseDO
ClinVar
RGD
PMID:25741868 PMID:27231971 PMID:19546852 RGD:6480671 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067
JBrowse link
G NRIP3-DT NRIP3 divergent transcript IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:9,004,088...9,067,791
Ensembl chr11:9,004,093...9,067,776
JBrowse link
G PDCD10 programmed cell death 10 IAGP ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 More... NCBI chr 3:167,683,298...167,734,892
Ensembl chr 3:167,683,298...167,734,939
JBrowse link
G 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
JBrowse link
G 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 8:67,952,046...68,237,032
Ensembl chr 8:67,952,046...68,237,032
JBrowse link
G 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
JBrowse link
G 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 chr11:9,019,476...9,138,114
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G VEGFA vascular endothelial growth factor A IEP RGD PMID:16388189 RGD:1580567 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G ZFYVE16 zinc finger FYVE-type containing 16 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:80,407,610...80,483,379
Ensembl chr 5:80,408,013...80,483,379
JBrowse link
CADASIL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: CASIL ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:23979357 PMID:25741868 More... NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: CASIL ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:23979357 PMID:25741868 More... NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G HTRA1 HtrA serine peptidase 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
JBrowse link
G NOTCH3 notch receptor 3 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type
ClinVar Annotator: match by term: CASIL | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type
CTD
ClinVar
PMID:3435268 PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 More... NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP ClinVar Annotator: match by term: CASIL ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:23979357 PMID:25741868 More... NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
CADASIL 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130063807 ATAC-STARR-seq lymphoblastoid silent region 10267 IAGP ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:15,177,645...15,177,814 JBrowse link
G MIR6795 microRNA 6795 IAGP ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:15,179,283...15,179,350
Ensembl chr19:15,179,283...15,179,350
JBrowse link
G NOTCH3 notch receptor 3 IAGP
ISS
ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
ClinVar Annotator: match by term: Recurrent subcortical infarcts
OMIM:125310
OMIM
ClinVar
MouseDO
PMID:3435268 PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 More... NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
CADASIL2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMS2 age-related maculopathy susceptibility 2 IAGP ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ClinVar PMID:25741868 NCBI chr10:122,454,653...122,457,352
Ensembl chr10:122,454,653...122,457,352
JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | ClinVar Annotator: match by term: HTRA1-related autosomal dominant cerebral small vessel disease
OMIM
ClinVar
PMID:19387015 PMID:25712943 PMID:25741868 PMID:26063658 PMID:26467025 More... NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
JBrowse link
G NOTCH3 notch receptor 3 IAGP ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 ClinVar PMID:28492532 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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 IEP associated with Alzheimer Disease;protein:increased expression:brain RGD PMID:17393059 RGD:2313919 NCBI chr17:42,851,199...42,858,124
Ensembl chr17:42,851,184...42,858,130
JBrowse link
G APOA1 apolipoprotein A1 ISO RGD PMID:20739292 RGD:5508213 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G 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
JBrowse link
G APP amyloid beta precursor protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:21520056 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G ITM2B integral membrane protein 2B ISS MouseDO NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
JBrowse link
G 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
JBrowse link
G OLR1 oxidized low density lipoprotein receptor 1 IAGP RGD PMID:16328515 RGD:1580993 NCBI chr12:10,158,301...10,176,266
Ensembl chr12:10,158,301...10,172,138
JBrowse link
G PSEN1 presenilin 1 IEA GAD PMID:15118671 RGD:1331525 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
cerebral artery occlusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHB2 EPH receptor B2 ameliorates ISO RGD PMID:18639535 RGD:127285624 NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500
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 ARMS2 age-related maculopathy susceptibility 2 IAGP ClinVar Annotator: match by term: CARASIL syndrome ClinVar PMID:18316707 PMID:20437615 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:122,454,653...122,457,352
Ensembl chr10:122,454,653...122,457,352
JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP ClinVar Annotator: match by term: CARASIL syndrome
ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease
ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease
ClinVar Annotator: match by term: CARASIL | ClinVar Annotator: match by term: CARASIL syndrome
ClinVar
OMIM
PMID:11889251 PMID:18316707 PMID:19387015 PMID:20437615 PMID:21115960 More... NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
JBrowse link
G PURA purine rich element binding protein A IAGP ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease ClinVar PMID:24500651 PMID:27148565 NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
JBrowse link
CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA14 G protein subunit alpha 14 IAGP ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome ClinVar NCBI chr 9:77,423,079...77,648,322
Ensembl chr 9:77,423,079...77,648,322
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 precursor protein IAGP ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis ClinVar PMID:25604855 PMID:25741868 PMID:28492532 PMID:30279455 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
JBrowse link
G 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:11815350 More... NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
JBrowse link
G LOC130065546 ATAC-STARR-seq lymphoblastoid silent region 12733 IAGP ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type ClinVar PMID:25741868 NCBI chr20:23,637,490...23,637,739 JBrowse link
G LOC130065547 ATAC-STARR-seq lymphoblastoid silent region 12734 IAGP ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type ClinVar PMID:11815350 PMID:25741868 PMID:25893795 PMID:28492532 PMID:33116287 NCBI chr20:23,637,770...23,638,109 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 IEA GAD PMID:15118671 RGD:1331525 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Experimental RGD PMID:23844137 RGD:8547935 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G AOC3 amine oxidase copper containing 3 ISO protein:decreased expression:cerebral artery RGD PMID:18312104 RGD:2313912 NCBI chr17:42,851,199...42,858,124
Ensembl chr17:42,851,184...42,858,130
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment IDA RGD PMID:25316629 RGD:11522723 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G CCDC180 coiled-coil domain containing 180 IAGP ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 NCBI chr 9:97,307,337...97,378,751
Ensembl chr 9:97,307,304...97,378,751
JBrowse link
G 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 chr17:34,255,274...34,257,208
JBrowse link
G CCN1 cellular communication network factor 1 disease_progression ISO protein:increased expression:common carotid artery plus branches (Rat) RGD PMID:33885814 RGD:329812012 NCBI chr 1:85,580,761...85,583,950
Ensembl chr 1:85,580,761...85,584,589
JBrowse link
G 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
JBrowse link
G 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...138,914,041
Ensembl chr 8:138,588,235...138,914,041
JBrowse link
G 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
JBrowse link
G 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...11,869,533
JBrowse link
G 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 1:150,794,880...150,809,577
JBrowse link
G 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 1:150,730,079...150,765,957
JBrowse link
G EDN1 endothelin 1 IEP protein:increased expression:serum RGD PMID:32602008 RGD:155882593 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G ELN elastin TAS RGD PMID:15218274 RGD:1580328 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G ENG endoglin IAGP DNA:missense mutation:exon 2:c.179-180CC>AA, p.A60E RGD PMID:10223461 PMID:19299629 RGD:1580964, RGD:329845530 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
JBrowse link
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Brain aneurysm ClinVar PMID:16835936 PMID:19006240 PMID:25525159 PMID:25741868 PMID:26038974 More... NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
JBrowse link
G IL6 interleukin 6 IAGP RGD PMID:16648144 RGD:1580488 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KLF5 KLF transcription factor 5 IEP protein:increased expression:artery RGD PMID:30201338 RGD:155883158 NCBI chr13:73,054,976...73,077,538
Ensembl chr13:73,054,976...73,077,541
JBrowse link
G KMT2D lysine methyltransferase 2D susceptibility IAGP DNA:SNP: :rs3782356(human) RGD PMID:30121816 RGD:155582216 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G MIR143 microRNA 143 IEP RNA:decreased expression:artery
RNA:decreased expression:serum
RGD PMID:32602008 PMID:30201338 RGD:155882593, RGD:155883158 NCBI chr 5:149,428,918...149,429,023
Ensembl chr 5:149,428,918...149,429,023
JBrowse link
G MIR145 microRNA 145 IEP RNA:decreased expression:serum RGD PMID:30201338 RGD:155883158 NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733
JBrowse link
G 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
JBrowse link
G MMP14 matrix metallopeptidase 14 IEP RGD PMID:9724118 RGD:1582590 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
JBrowse link
G 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
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment
susceptibility
ISO
IEP
IAGP
mRNA:increased expression:blood vessel
protein:increased expression:artery
associated with Diabetes Mellitus, Experimental
mRNA, protein:increased expression:artery
RGD PMID:17569872 PMID:32602008 PMID:21937941 PMID:9310982 PMID:23844137 More... RGD:2290352, RGD:155882593, 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
JBrowse link
G MYOCD myocardin ameliorates ISO RGD PMID:25868147 RGD:401793751 NCBI chr17:12,665,890...12,768,949
Ensembl chr17:12,665,890...12,768,949
JBrowse link
G NCBP1 nuclear cap binding protein subunit 1 IAGP ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 NCBI chr 9:97,633,821...97,673,748
Ensembl chr 9:97,633,668...97,673,748
JBrowse link
G NCF1 neutrophil cytosolic factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19381132 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting susceptibility IAGP DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
JBrowse link
G 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...88,077,777
Ensembl chr 4:88,007,635...88,077,777
JBrowse link
G PLAU plasminogen activator, urokinase ISO RGD PMID:21786025 RGD:6483795 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
JBrowse link
G SOX17 SRY-box transcription factor 17 susceptibility
no_association
IEP
IAGP
protein:decreased expression:middle cerebral artery (human)
DNA:SNP:enhancer: (rs10958409) (human)
DNA:SNP:enhancer: (rs1072737) (human)
RGD PMID:25596186 PMID:18997786 PMID:31250579 PMID:20364137 PMID:31040677 More... RGD:329853324, RGD:329955569, RGD:329955568, RGD:329955465, RGD:329955463, RGD:329853736, RGD:329853325 NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892
JBrowse link
G SUGT1P4-STRA6LP-CCDC180 SUGT1P4-STRA6LP-CCDC180 readthrough IAGP ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 NCBI chr 9:97,238,426...97,377,295
Ensembl chr 9:97,238,497...97,377,287
JBrowse link
G SYCP1 synaptonemal complex protein 1 IAGP ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:114,854,088...114,995,370
Ensembl chr 1:114,854,863...114,995,370
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:17569872 RGD:2290352 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G VEGFA vascular endothelial growth factor A IEP mRNA,protein:increased expression:artery RGD PMID:32602008 RGD:155882593 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G VWF von Willebrand factor IEP protein:increased expression:serum, artery RGD PMID:32602008 RGD:155882593 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
JBrowse link
G ZNF782 zinc finger protein 782 IAGP ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 NCBI chr 9:96,816,164...96,933,806
Ensembl chr 9:96,816,269...96,875,623
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 1 domain containing 1 IAGP ClinVar Annotator: match by term: Aneurysm, intracranial berry, 12 OMIM
ClinVar
PMID:25741868 PMID:27895300 NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373
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 IEP
IAGP
ClinVar Annotator: match by term: Presenile dementia with spastic ataxia ClinVar
OMIM
RGD
PMID:10391242 PMID:21610757 PMID:25741868 PMID:28492532 PMID:31719132 More... RGD:1358403 NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
JBrowse link
G LOC130009752 ATAC-STARR-seq lymphoblastoid silent region 5332 IAGP ClinVar Annotator: match by term: Presenile dementia with spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr13:48,233,452...48,233,661 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 IAGP
EXP
ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
JBrowse link
G LOC130009751 ATAC-STARR-seq lymphoblastoid silent region 5331 IAGP ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica ClinVar PMID:25741868 NCBI chr13:48,233,082...48,233,441 JBrowse link
G LOC130009752 ATAC-STARR-seq lymphoblastoid silent region 5332 IAGP ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica ClinVar PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr13:48,233,452...48,233,661 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 subfamily C member 8 treatment ISO RGD PMID:23149556 PMID:24602692 RGD:12790979, RGD:12791996 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
JBrowse link
G 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
JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:brain RGD PMID:24090950 RGD:9685436 NCBI chr  X:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236
JBrowse link
G ACVR1 activin A receptor type 1 ISO RGD PMID:33345977 RGD:329845521 NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330
JBrowse link
G ACVR2B activin A receptor type 2B ISO mRNA:increased expression:brain (mouse) RGD PMID:33763412 RGD:329849104 NCBI chr 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142
JBrowse link
G ADORA1 adenosine A1 receptor EXP CTD Direct Evidence: therapeutic CTD PMID:23437309 NCBI chr 1:203,127,726...203,167,405
Ensembl chr 1:203,090,654...203,167,405
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO
EXP
associated with Diabetes Mellitus, Experimental
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25446913 PMID:24211797 RGD:8696008 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G AGT angiotensinogen ISO protein:increased expression:brain, serum RGD PMID:24090950 RGD:9685436 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
JBrowse link
G 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
JBrowse link
G AK1 adenylate kinase 1 ISO protein:decreased expression:cerebral cortex (rat) RGD PMID:16468349 RGD:5508760 NCBI chr 9:127,866,480...127,879,621
Ensembl chr 9:127,866,486...127,877,675
JBrowse link
G 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
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19309543 NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
JBrowse link
G AP2B1 adaptor related protein complex 2 subunit beta 1 ISO protein:increased degradation:brain RGD PMID:19240038 RGD:13461853 NCBI chr17:35,587,322...35,726,413
Ensembl chr17:35,578,046...35,726,413
JBrowse link
G APAF1 apoptotic peptidase activating factor 1 treatment ISO RGD PMID:24012531 RGD:13703113 NCBI chr12:98,645,290...98,735,433
Ensembl chr12:98,645,149...98,735,433
JBrowse link
G 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
JBrowse link
G APP amyloid beta precursor protein treatment ISO RGD PMID:28963051 RGD:13782054 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
JBrowse link
G AQP4 aquaporin 4 treatment ISO RGD PMID:20815926 PMID:33127515 RGD:8695955, RGD:155646130 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:23143152 RGD:10054501 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G 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
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:23143152 RGD:10054501 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO RGD PMID:20417695 PMID:28202057 PMID:35218623 RGD:4891138, RGD:405878057, RGD:401960864 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G 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
JBrowse link
G BNIP3 BCL2 interacting protein 3 ISO protein:increased expression:brain RGD PMID:17379825 RGD:9685412 NCBI chr10:131,967,684...131,981,923
Ensembl chr10:131,967,684...131,981,967
JBrowse link
G 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
JBrowse link
G C1QTNF6 C1q and TNF related 6 ameliorates ISO RGD PMID:35322553 RGD:242905190 NCBI chr22:37,180,166...37,199,423
Ensembl chr22:37,180,166...37,199,385
JBrowse link
G C3 complement C3 ISO
EXP
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23199288 PMID:22103620 RGD:7175514 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CALCA calcitonin related polypeptide alpha treatment ISO RGD PMID:30531687 RGD:329849008 NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354
JBrowse link
G 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...150,290,093
JBrowse link
G 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...184,650,062
JBrowse link
G CASP6 caspase 6 ISO RGD PMID:26868427 RGD:13782346 NCBI chr 4:109,664,388...109,709,767
Ensembl chr 4:109,688,622...109,703,583
JBrowse link
G 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
JBrowse link
G 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 chr17:34,255,274...34,257,208
JBrowse link
G 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
JBrowse link
G CD36 CD36 molecule (CD36 blood group) treatment ISO RGD PMID:25216018 RGD:11041113 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G CREB1 cAMP responsive element binding protein 1 treatment ISO RGD PMID:35218623 RGD:401960864 NCBI chr 2:207,529,962...207,605,988
Ensembl chr 2:207,529,737...207,605,988
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G CRTC1 CREB regulated transcription coactivator 1 treatment ISO RGD PMID:20417695 RGD:4891138 NCBI chr19:18,683,680...18,782,333
Ensembl chr19:18,683,678...18,782,333
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO mRNA:increased expression:cerebral cortex RGD PMID:10825390 RGD:632989 NCBI chr  X:71,615,919...71,618,511
Ensembl chr  X:71,615,916...71,618,511
JBrowse link
G 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
JBrowse link
G DICER1 dicer 1, ribonuclease III ISO mRNA:decreased expression:brain: RGD PMID:26294080 RGD:11553310 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO RGD PMID:11726790 RGD:9588643 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G EDN1 endothelin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17197033 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G 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
JBrowse link
G EGR2 early growth response 2 ISO RGD PMID:22645329 RGD:10395314 NCBI chr10:62,811,996...62,819,167
Ensembl chr10:62,811,996...62,819,167
JBrowse link
G 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
JBrowse link
G 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 chr14:67,360,328...67,386,516
JBrowse link
G ELANE elastase, neutrophil expressed treatment ISO RGD PMID:10700596 RGD:10450546 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G ENG endoglin ISO RGD PMID:24876084 RGD:11041171 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
JBrowse link
G 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
JBrowse link
G EPHB2 EPH receptor B2 treatment ISO mRNA,protein:increased expression: cortex, cerebral cortex subventricular zone RGD PMID:16321245 PMID:16321245 RGD:1642069, RGD:1642069 NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:9974119 RGD:10401103 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G F11 coagulation factor XI ISO RGD PMID:16533887 RGD:11041786 NCBI chr 4:186,266,189...186,289,681
Ensembl chr 4:186,266,189...186,289,681
JBrowse link
G F12 coagulation factor XII treatment ISO
IDA
RGD PMID:16533887 PMID:16533887 RGD:11041786, RGD:11041786 NCBI chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,133...177,416,583
JBrowse link
G 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
JBrowse link
G 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 chr11:70,203,296...70,207,390
JBrowse link
G FGF2 fibroblast growth factor 2 treatment ISO RGD PMID:30531687 RGD:329849008 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
JBrowse link
G 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
JBrowse link
G 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...75,283,190
JBrowse link
G 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
JBrowse link
G GAP43 growth associated protein 43 treatment ISO RGD PMID:30531687 RGD:329849008 NCBI chr 3:115,623,510...115,721,483
Ensembl chr 3:115,623,510...115,721,490
JBrowse link
G 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
JBrowse link
G GCH1 GTP cyclohydrolase 1 treatment ISO RGD PMID:24956890 RGD:401717568 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
JBrowse link
G GDNF glial cell derived neurotrophic factor treatment ISO RGD PMID:29497380 PMID:28202057 PMID:20468049 PMID:21347705 RGD:40925919, RGD:405878057, RGD:405866363, RGD:405866359 NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G GLUL glutamate-ammonia ligase treatment ISO protein:increased expression:eye
protein:increased expression:cerebrum, astrocyte
RGD PMID:24518488 PMID:23595285 PMID:26024074 PMID:26093193 RGD:401794420, RGD:401794586, RGD:401794592, RGD:401794587 NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 treatment ISO RGD PMID:26674869 RGD:11068571 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
JBrowse link
G 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
JBrowse link
G 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 4:7,058,671...7,068,085
JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO RGD PMID:28440874 RGD:13792734 NCBI chr 3:119,821,321...120,094,447
Ensembl chr 3:119,821,321...120,094,994
JBrowse link
G GSN gelsolin ameliorates ISO RGD PMID:18234195 PMID:9927495 RGD:329333031, RGD:329333033 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843
JBrowse link
G H19 H19 imprinted maternally expressed transcript ameliorates ISO RNA:increased expression:brain (rat)
RNA:increased expression:brain (mouse)
RGD PMID:28203482 PMID:28630232 PMID:35322553 PMID:31170091 PMID:32335212 RGD:155900760, RGD:242905192, RGD:242905190, RGD:242905188, RGD:156451661 NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G HDAC2 histone deacetylase 2 exacerbates ISO RGD PMID:32239566 RGD:155883173 NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308
JBrowse link
G 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
JBrowse link
G HDAC5 histone deacetylase 5 treatment ISO mRNA,protein:decreased expression:brain: RGD PMID:23480850 RGD:9681449 NCBI chr17:44,076,753...44,123,641
Ensembl chr17:44,076,746...44,123,702
JBrowse link
G 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
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:21029239 RGD:9068917 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G 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
JBrowse link
G 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...35,394,214
JBrowse link
G HP haptoglobin ISO RGD PMID:22103620 RGD:7175514 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G HSPA4 heat shock protein family A (Hsp70) member 4 ISO rat gene in mouse model RGD PMID:17473852 PMID:21709150 RGD:5688754, RGD:6218961 NCBI chr 5:133,052,013...133,106,449
Ensembl chr 5:133,052,013...133,106,449
JBrowse link
G 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
JBrowse link
G 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 2:74,529,596...74,533,350
JBrowse link
G HVCN1 hydrogen voltage gated channel 1 ISO RGD PMID:31250553 RGD:14985213 NCBI chr12:110,648,686...110,704,952
Ensembl chr12:110,627,841...110,704,950
JBrowse link
G 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
JBrowse link
G IGF1 insulin like growth factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO RGD PMID:16286924 RGD:10045955 NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460
JBrowse link
G IL10 interleukin 10 ameliorates ISO RGD PMID:28630232 RGD:242905192 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G IL1B interleukin 1 beta ameliorates
treatment
ISO
EXP
protein:increased expression:cerebral cortex (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25257527 PMID:23028794 PMID:35322553 PMID:29498696 PMID:24916922 RGD:7204480, RGD:242905190, RGD:13792833, RGD:10450594 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist treatment IMP human gene in a rat model RGD PMID:7790404 RGD:8551708 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G IL5 interleukin 5 ISO RGD PMID:23028794 RGD:7204480 NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838
JBrowse link
G IL6 interleukin 6 treatment EXP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12374626 PMID:21940958 PMID:25257527 PMID:29498696 RGD:13792833 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
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
JBrowse link
G IL6ST interleukin 6 cytokine family 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
JBrowse link
G IL7R interleukin 7 receptor ISO protein:increased expression:brain: RGD PMID:30676545 RGD:151347693 NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603
JBrowse link
G 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
JBrowse link
G INHBA inhibin subunit beta A ISO RGD PMID:33345977 RGD:329845521 NCBI chr 7:41,685,114...41,705,406
Ensembl chr 7:41,667,168...41,705,834
JBrowse link
G IRF4 interferon regulatory factor 4 ISO RGD PMID:25652434 RGD:11530061 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443
JBrowse link
G 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
JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 ameliorates ISO RGD PMID:26661208 PMID:25477223 PMID:21750563 RGD:329955572, RGD:401700383, RGD:329955444 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976
JBrowse link
G LIG3 DNA ligase 3 ISO associated with transient cerebral ischemia;protein:increased expression:brain RGD PMID:17412650 RGD:2302580 NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743
JBrowse link
G 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
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:27152455 PMID:35218623 RGD:13800881, RGD:401960864 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:27152455 PMID:35218623 RGD:13800881, RGD:401960864 NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
JBrowse link
G MAPT microtubule associated protein tau treatment ISO RGD PMID:28886009 PMID:25903928 PMID:28886009 RGD:13800886, RGD:13800913, RGD:13800886 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
JBrowse link
G MIR107 microRNA 107 ISO RNA:increased expression:brain RGD PMID:26294080 RGD:11553310 NCBI chr10:89,592,747...89,592,827
Ensembl chr10:89,592,747...89,592,827
JBrowse link
G MIR132 microRNA 132 treatment ISO mRNA:decreased expression:brain (mouse) RGD PMID:33763412 PMID:33763412 RGD:329849104, RGD:329849104 NCBI chr17:2,049,908...2,050,008
Ensembl chr17:2,049,908...2,050,008
JBrowse link
G MIR140 microRNA 140 ameliorates ISO miRNA:decreased expression:cerebral cortex (rat) RGD PMID:33246036 PMID:27035554 RGD:329337375, RGD:329337377 NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180
JBrowse link
G MIR19A microRNA 19a ISO RNA:decreased expression:brain (mouse) RGD PMID:32335212 RGD:156451661 NCBI chr13:91,350,891...91,350,972
Ensembl chr13:91,350,891...91,350,972
JBrowse link
G MIR210 microRNA 210 treatment ISO RGD PMID:34337881 RGD:155269103 NCBI chr11:568,089...568,198
Ensembl chr11:568,089...568,198
JBrowse link
G MIR29B1 microRNA 29b-1 exacerbates ISO RGD PMID:35322553 RGD:242905190 NCBI chr 7:130,877,459...130,877,539
Ensembl chr 7:130,877,459...130,877,539
JBrowse link
G MIR494 microRNA 494 ameliorates ISO RGD PMID:32239566 PMID:31465536 RGD:155883173, RGD:156430320 NCBI chr14:101,029,634...101,029,714
Ensembl chr14:101,029,634...101,029,714
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19309543 PMID:24842554 RGD:13204729 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G 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
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 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 ISO RGD PMID:21386696 RGD:13801046 NCBI chr16:66,802,878...66,830,976
Ensembl chr16:66,802,875...66,873,256
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase treatment ISO RGD PMID:28495827 RGD:13781880 NCBI chr 7:106,248,298...106,285,888
Ensembl chr 7:106,248,298...106,285,966
JBrowse link
G NCAM1 neural cell adhesion molecule 1 treatment IMP
ISO
RGD PMID:32962079 PMID:29497380 RGD:40924633, RGD:40925919 NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,275...113,278,436
JBrowse link
G NEFH neurofilament heavy chain ISO RGD PMID:29967576 RGD:27226878 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
JBrowse link
G NEFL neurofilament light chain 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...24,956,721
JBrowse link
G NEFM neurofilament medium chain 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
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO RGD PMID:23880501 PMID:24466583 RGD:10412696, RGD:10412714 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
JBrowse link
G NFKBIA NFKB inhibitor alpha treatment ISO RGD PMID:21122797 RGD:10413868 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
JBrowse link
G NGF nerve growth factor treatment EXP
ISO
CTD Direct Evidence: therapeutic CTD
RGD
PMID:10408807 PMID:29409115 RGD:402463967 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G 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
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 treatment ISO RGD PMID:24842554 RGD:13204729 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G 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
JBrowse link
G NOX1 NADPH oxidase 1 treatment ISO RGD PMID:30816157 RGD:329955567 NCBI chr  X:100,843,324...100,874,359
Ensembl chr  X:100,843,324...100,874,359
JBrowse link
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
JBrowse link
G NRG1 neuregulin 1 treatment
ameliorates
IDA RGD PMID:20691195 PMID:30206770 RGD:10449015, RGD:405650589 NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase treatment ISO associated with Hypertension RGD PMID:17920569 RGD:8657395 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G 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
JBrowse link
G 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 1:226,360,210...226,408,154
JBrowse link
G 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...79,690,964
Ensembl chr12:79,574,979...79,690,964
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha treatment ISO RGD PMID:16917016 RGD:11084934 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G 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
JBrowse link
G PLAT plasminogen activator, tissue type ISO
EXP
CTD Direct Evidence: therapeutic CTD
RGD
PMID:12297567 PMID:17690543 PMID:18453163 PMID:20547619 PMID:29651748 More... RGD:1580876 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
JBrowse link
G PLAU plasminogen activator, urokinase EXP CTD Direct Evidence: therapeutic CTD PMID:11677890 PMID:15181847 PMID:17702958 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
JBrowse link
G 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
JBrowse link
G POLB DNA polymerase beta ISO associated with transient cerebral ischemia;protein:increased expression:brain RGD PMID:17412650 RGD:2302580 NCBI chr 8:42,338,494...42,371,808
Ensembl chr 8:42,338,454...42,371,808
JBrowse link
G PRKCG protein kinase C gamma IEP RGD PMID:14688616 RGD:1358416 NCBI chr19:53,881,094...53,907,652
Ensembl chr19:53,879,190...53,907,652
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:24159062 RGD:11100027 NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
JBrowse link
G 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
JBrowse link
G RBFOX3 RNA binding fox-1 homolog 3 treatment ISO RGD PMID:30531687 RGD:329849008 NCBI chr17:79,089,345...79,665,571
Ensembl chr17:79,089,345...79,611,051
JBrowse link
G RELN reelin severity ISO RGD PMID:16438965 RGD:13207538 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658
JBrowse link
G 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 chr15:93,035,271...93,089,211
JBrowse link
G RPL28 ribosomal protein L28 ISO RGD PMID:16805800 RGD:6480229 NCBI chr19:55,385,932...55,403,342
Ensembl chr19:55,385,932...55,403,250
JBrowse link
G 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
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO mRNA:increased expression:brain RGD PMID:24672479 RGD:11251714 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G S100A5 S100 calcium binding protein A5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 1:153,537,147...153,543,685
Ensembl chr 1:153,537,147...153,541,765
JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:cerebrum, astrocyte RGD PMID:23595285 RGD:401794586 NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G SLC1A2 solute carrier family 1 member 2 treatment ISO RGD PMID:20423712 RGD:401794585 NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063
JBrowse link
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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:23696546 PMID:23499832 RGD:12832759, RGD:12879404 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SMOX spermine oxidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:30576531 NCBI chr20:4,148,828...4,187,727
Ensembl chr20:4,120,980...4,187,747
JBrowse link
G SNAP91 synaptosome associated protein 91 ISO protein:increased degradation:brain RGD PMID:19240038 RGD:13461853 NCBI chr 6:83,552,885...83,709,393
Ensembl chr 6:83,552,880...83,709,691
JBrowse link
G 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 chr21:31,659,666...31,668,931
JBrowse link
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
JBrowse link
G SPHK2 sphingosine kinase 2 EXP CTD Direct Evidence: therapeutic CTD PMID:23043544 NCBI chr19:48,619,506...48,630,405
Ensembl chr19:48,619,291...48,630,717
JBrowse link
G STAT3 signal transducer and activator of transcription 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
JBrowse link
G TGFB1 transforming growth factor beta 1 ameliorates ISO RGD PMID:31409163 PMID:28630232 RGD:14995477, RGD:242905192 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TH tyrosine hydroxylase ISO protein:decreased expression:substantia nigra pars compacta, neuron (rat) RGD PMID:21366664 RGD:5128609 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
JBrowse link
G TNF tumor necrosis factor treatment
ameliorates
ISO RGD PMID:24916922 PMID:28630232 PMID:35322553 PMID:15647744 PMID:29498696 RGD:10450594, RGD:242905192, RGD:242905190, RGD:13825261, RGD:13792833 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFAIP6 TNF alpha induced protein 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 2:151,357,592...151,381,340
Ensembl chr 2:151,357,592...151,380,046
JBrowse link
G 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
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 ameliorates ISO RGD PMID:32736673 RGD:127284860 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,100...41,286,682
JBrowse link
G UPP1 uridine phosphorylase 1 ISO mRNA, protein:increased expression:brain (rat) RGD PMID:18457515 RGD:2317094 NCBI chr 7:48,088,704...48,108,736
Ensembl chr 7:48,088,628...48,108,736
JBrowse link
G VEGFA vascular endothelial growth factor A treatment ISO mRNA,protein:increased expression:cerebral cortex (rat) RGD PMID:29497380 PMID:30531687 PMID:27035554 RGD:40925919, RGD:329849008, RGD:329337377 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G XDH xanthine dehydrogenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742
JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO associated with transient cerebral ischemia;protein:increased expression:brain RGD PMID:17412650 RGD:2302580 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
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 IAGP ClinVar Annotator: match by term: Moyamoya disease
ClinVar Annotator: match by term: Moyamoya disease | ClinVar Annotator: match by term: Moyamoya syndrome
ClinVar PMID:25741868 PMID:28492532 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339
JBrowse link
G ACTA2-AS1 ACTA2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Moyamoya disease ClinVar PMID:25741868 NCBI chr10:88,932,684...88,939,974
Ensembl chr10:88,932,390...88,940,820
JBrowse link
G FAS Fas cell surface death receptor IAGP ClinVar Annotator: match by term: Moyamoya disease ClinVar PMID:25741868 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G HLA-A major histocompatibility complex, class I, A susceptibility IAGP DNA:polymorphism:HLA-A02 RGD PMID:22234791 RGD:329961315 NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572
JBrowse link
G PHACTR1 phosphatase and actin regulator 1 disease_progression IAGP DNA:missense mutation:CDS:c.13185159G>T (p.V265L) (human) RGD PMID:32411507 RGD:401900691 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446
JBrowse link
G RNF213 ring finger protein 213 IAGP ClinVar Annotator: match by term: Moyamoya disease ClinVar PMID:25741868 PMID:33568546 NCBI chr17:80,260,852...80,398,794
Ensembl chr17:80,260,852...80,398,794
JBrowse link
G RNF213-AS1 RNF213 antisense RNA 1 IAGP ClinVar Annotator: match by term: Moyamoya disease ClinVar PMID:25741868 PMID:33568546 NCBI chr17:80,351,830...80,415,168
Ensembl chr17:80,351,828...80,415,168
JBrowse link
G 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
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 subunit alpha 1 IAGP ClinVar Annotator: match by term: MYMY1 ClinVar PMID:26777256 NCBI chr 4:155,666,848...155,737,059
Ensembl chr 4:155,666,726...155,737,059
JBrowse link
G RNF213 ring finger protein 213 IAGP ClinVar Annotator: match by term: Moyamoya disease 1 ClinVar PMID:25741868 NCBI chr17:80,260,852...80,398,794
Ensembl chr17:80,260,852...80,398,794
JBrowse link
G RNF213-AS1 RNF213 antisense RNA 1 IAGP ClinVar Annotator: match by term: Moyamoya disease 1 ClinVar PMID:25741868 NCBI chr17:80,351,830...80,415,168
Ensembl chr17:80,351,828...80,415,168
JBrowse link
Moyamoya Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENDOV endonuclease V IAGP ClinVar Annotator: match by term: Moyamoya disease 2 ClinVar NCBI chr17:80,415,167...80,438,086
Ensembl chr17:80,415,165...80,438,086
JBrowse link
G ENG endoglin IAGP ClinVar Annotator: match by term: Moyamoya disease 2 ClinVar PMID:25741868 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
JBrowse link
G LOC126862663 BRD4-independent group 4 enhancer GRCh37_chr17:78345568-78346767 IAGP ClinVar Annotator: match by term: Moyamoya disease 2 ClinVar PMID:25278557 PMID:25741868 PMID:28492532 NCBI chr17:80,371,768...80,372,967 JBrowse link
G LOC130061908 ATAC-STARR-seq lymphoblastoid active region 12935 IAGP ClinVar Annotator: match by term: Moyamoya disease 2 ClinVar NCBI chr17:80,415,600...80,415,689 JBrowse link
G MIR4730 microRNA 4730 IAGP ClinVar Annotator: match by term: Moyamoya disease 2 ClinVar NCBI chr17:80,419,418...80,419,493
Ensembl chr17:80,419,418...80,419,493
JBrowse link
G RNF213 ring finger protein 213 susceptibility IAGP
EXP
ClinVar Annotator: match by term: Moyamoya disease 2
ClinVar Annotator: match by term: Moyamoya disease 2 | ClinVar Annotator: match by term: RNF213-related condition
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:21048783 PMID:21799892 PMID:22377813 PMID:22931863 PMID:23110205 More... NCBI chr17:80,260,852...80,398,794
Ensembl chr17:80,260,852...80,398,794
JBrowse link
G RNF213-AS1 RNF213 antisense RNA 1 IAGP ClinVar Annotator: match by term: Moyamoya disease 2
ClinVar Annotator: match by term: Moyamoya disease 2 | ClinVar Annotator: match by term: RNF213-related condition
ClinVar PMID:21048783 PMID:21799892 PMID:22377813 PMID:22931863 PMID:23110205 More... NCBI chr17:80,351,830...80,415,168
Ensembl chr17:80,351,828...80,415,168
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 IAGP ClinVar Annotator: match by term: Moyamoya disease 5 OMIM
ClinVar
PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 More... NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339
JBrowse link
G ACTA2-AS1 ACTA2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Moyamoya disease 5 ClinVar PMID:646322 PMID:17994018 PMID:19409525 PMID:21248741 PMID:22753406 More... NCBI chr10:88,932,684...88,939,974
Ensembl chr10:88,932,390...88,940,820
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 subunit alpha 1 IAGP ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia OMIM
ClinVar
PMID:24581742 PMID:25741868 PMID:26777256 PMID:28492532 NCBI chr 4:155,666,848...155,737,059
Ensembl chr 4:155,666,726...155,737,059
JBrowse link
Moyamoya Disease 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO1 anoctamin 1 IAGP ClinVar Annotator: match by term: Moyamoya disease 7 OMIM
ClinVar
PMID:37253099 NCBI chr11:69,965,997...70,189,530
Ensembl chr11:69,985,907...70,189,530
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 precursor protein IEP protein:decreased expression:cerebrospinal fluid: RGD PMID:1677459 RGD:10054257 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:18938189 RGD:10054050 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:18938189 RGD:10054050 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:21279683 RGD:10449132 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572
JBrowse link
G 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
JBrowse link
vascular dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APP amyloid beta precursor protein IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:22312439 PMID:25104557 PMID:25174650 PMID:25604855 PMID:26242991 More... NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
JBrowse link
G 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
JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:23979357 PMID:25741868 More... NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:23979357 PMID:25741868 More... NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G AVP arginine vasopressin ISO protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr20:3,082,556...3,084,724
Ensembl chr20:3,082,556...3,084,724
JBrowse link
G 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
JBrowse link
G C1R complement C1r IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 PMID:33268848 PMID:35307828 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 PMID:33268848 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489
JBrowse link
G CCM2 CCM2 scaffold protein IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:28492532 PMID:33268848 PMID:35307828 NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
JBrowse link
G 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
JBrowse link
G CHMP2B charged multivesicular body protein 2B IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556
JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:28492532 PMID:33268848 PMID:35307828 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
JBrowse link
G COL4A2 collagen type IV alpha 2 chain IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:33268848 NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209
JBrowse link
G COL4A2-AS1 COL4A2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:33268848 NCBI chr13:110,502,576...110,508,179
Ensembl chr13:110,502,575...110,508,179
JBrowse link
G COLGALT1 collagen beta(1-O)galactosyltransferase 1 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr19:17,555,649...17,583,157
Ensembl chr19:17,555,649...17,583,162
JBrowse link
G CREB1 cAMP responsive element binding protein 1 treatment ISO RGD PMID:27923588 RGD:401960869 NCBI chr 2:207,529,962...207,605,988
Ensembl chr 2:207,529,737...207,605,988
JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:28492532 PMID:35307828 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055
JBrowse link
G DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 3:132,417,502...132,539,032
Ensembl chr 3:132,417,502...132,539,032
JBrowse link
G 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 4:98,879,276...98,929,133
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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...93,909,430
Ensembl chr 1:93,885,199...93,909,456
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:24968700 RGD:11352822 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IEP associated with Alzheimer's disease RGD PMID:25261450 RGD:13792687 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IEP
IAGP
ClinVar Annotator: match by term: Vascular dementia ClinVar
RGD
PMID:35307828 PMID:25261450 RGD:13792687 NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,183,337
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B severity IEP RGD PMID:25261450 RGD:13792687 NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002
JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO RGD PMID:27118553 RGD:13792766 NCBI chr 3:119,821,321...120,094,447
Ensembl chr 3:119,821,321...120,094,994
JBrowse link
G 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
JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:24500651 PMID:25741868 PMID:32042911 PMID:33268848 PMID:35307828 More... NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
JBrowse link
G IGF1 insulin like growth factor 1 severity IEP
ISO
mRNA,protein:decreased expression:hippocampus: RGD PMID:16181175 PMID:22342912 RGD:1598446, RGD:10045864 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G 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
JBrowse link
G IL1B interleukin 1 beta IEP protein:increased expression:plasma RGD PMID:16600299 RGD:1626633 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G ITM2B integral membrane protein 2B IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:33268848 NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:33268848 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
JBrowse link
G LOC114827827 VISTA enhancer hs2123 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 PMID:28492532 PMID:33268848 NCBI chr 1:11,846,819...11,848,609 JBrowse link
G 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 6:160,531,482...160,664,275
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:24070657 RGD:405096669 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MAPT microtubule associated protein tau treatment ISO RGD PMID:27118553 RGD:13792766 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
JBrowse link
G MIR143 microRNA 143 treatment
exacerbates
IEP
ISO
RGD PMID:36459592 PMID:36459592 RGD:155882588, RGD:155882588 NCBI chr 5:149,428,918...149,429,023
Ensembl chr 5:149,428,918...149,429,023
JBrowse link
G 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
JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO protein:decreased expression:hippocampus RGD PMID:23053837 RGD:10401142 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
JBrowse link
G NEFL neurofilament light chain IEP protein:increased expression:CSF (human) RGD PMID:29391125 RGD:127285384 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
G NMNAT2 nicotinamide nucleotide adenylyltransferase 2 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 1:183,248,237...183,418,380
Ensembl chr 1:183,248,237...183,418,380
JBrowse link
G NOTCH3 notch receptor 3 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:14714274 PMID:15364702 PMID:16009764 PMID:24840674 PMID:25033846 More... NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G NOX1 NADPH oxidase 1 treatment ISO RGD PMID:24294978 RGD:329955573 NCBI chr  X:100,843,324...100,874,359
Ensembl chr  X:100,843,324...100,874,359
JBrowse link
G NPPA natriuretic peptide A IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 PMID:28492532 PMID:33268848 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
JBrowse link
G NPPA-AS1 NPPA antisense RNA 1 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 PMID:28492532 PMID:33268848 NCBI chr 1:11,840,319...11,847,616 JBrowse link
G PCNT pericentrin IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
JBrowse link
G PDE9A phosphodiesterase 9A treatment ISO RGD PMID:30916555 RGD:242905183 NCBI chr21:42,653,621...42,775,509
Ensembl chr21:42,653,621...42,775,509
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 PMID:25850945 PMID:26467025 PMID:28492532 PMID:35307828 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G 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
JBrowse link
G PRNP prion protein (Kanno blood group) IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590
JBrowse link
G PSEN2 presenilin 2 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:26522186 PMID:33268848 NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G SLC20A2 solute carrier family 20 member 2 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926
JBrowse link
G SMAD4 SMAD family member 4 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:28492532 PMID:35307828 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
JBrowse link
G SNCA synuclein alpha IEP
IAGP
protein:increased expression:cerebrospinal fluid
ClinVar Annotator: match by term: Vascular dementia
ClinVar
RGD
PMID:35307828 PMID:18577885 RGD:6478792 NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
JBrowse link
G SNCG synuclein gamma IEP protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 NCBI chr10:86,955,759...86,963,258
Ensembl chr10:86,958,599...86,963,258
JBrowse link
G 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...41,907,305
Ensembl chr22:41,833,105...41,907,306
JBrowse link
G 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
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373
JBrowse link
G TMEM106B transmembrane protein 106B IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:33268848 NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367
JBrowse link
G 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
JBrowse link
G 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...7,687,546
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:23979357 PMID:25741868 More... NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 PMID:28492532 PMID:35307828 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G TUBB2A tubulin beta 2A class IIa IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 6:3,153,666...3,157,544
Ensembl chr 6:3,153,497...3,157,544
JBrowse link
G UBQLN2 ubiquilin 2 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868
JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537
JBrowse link
Vein of Galen Aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN14 claudin 14 IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106 NCBI chr21:36,460,621...36,576,569
Ensembl chr21:36,460,621...36,576,569
JBrowse link
G CLDN14-AS1 CLDN14 antisense RNA 1 IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106 NCBI chr21:36,430,325...36,498,526 JBrowse link
G EPHB4 EPH receptor B4 IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
JBrowse link
G KEL Kell metallo-endopeptidase (Kell blood group) IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 7:142,941,114...142,962,363
Ensembl chr 7:142,941,114...142,962,363
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:28492532 PMID:30578106 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      cardiovascular system disease 16231
        vascular disease 12026
          cerebrovascular disease 2053
            intracranial arterial disease 575
              arteriovenous malformations of the brain + 35
              cerebral arterial disease + 494
              intracranial aneurysm + 174
              intracranial arteriosclerosis + 81
Path 2
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      nervous system disease 53022
        central nervous system disease 38426
          brain disease 36130
            cerebrovascular disease 2053
              intracranial arterial disease 575
                arteriovenous malformations of the brain + 35
                cerebral arterial disease + 494
                intracranial aneurysm + 174
                intracranial arteriosclerosis + 81
paths to the root