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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:intracranial arterial disease
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Accession:DOID:13089 term browser browse the term
Definition:Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.
Synonyms:exact_synonym: Arterial Brain Disease;   Arterial Brain Diseases;   Arterial Brain Disorder;   Arterial Brain Disorders;   Intracranial Arterial Disorder;   Intracranial Arterial Disorders;   intracranial arterial diseases
 primary_id: MESH:D020765;   RDO:0005158
 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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31939705 NCBI chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337
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 ISO ClinVar Annotator: match by term: AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT | ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related OMIM
ClinVar
PMID:1303172 PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 More... NCBI chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337
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 ISO OMIM:108010 MouseDO NCBI chr27:3,075,373...3,090,549
Ensembl chr27:3,076,124...3,092,469
JBrowse link
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:39,510,129...39,533,129
Ensembl chr 6:39,510,121...39,533,753
JBrowse link
G CDH2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:60,736,760...60,950,477
Ensembl chr 7:60,736,760...60,951,034
JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G ENG endoglin disease_progression ISO DNA:polymorphism: : 207G>A(human)
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
RGD
ClinVar
PMID:15879500 PMID:24876084 PMID:25741868 PMID:28492532 PMID:30120215 RGD:11041171 NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621
JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658
JBrowse link
G IL17RD interleukin 17 receptor D ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901 NCBI chr20:33,240,728...33,306,727
Ensembl chr20:33,240,767...33,303,404
JBrowse link
G IL6 interleukin 6 ISO OMIM NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation
OMIM
ClinVar
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 More... NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G LEMD3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:7,775,995...7,833,895
Ensembl chr10:7,777,946...7,834,107
JBrowse link
G MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:41,088,020...41,276,801
Ensembl chr10:41,089,371...41,276,891
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059
JBrowse link
G NOTCH4 notch receptor 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:27231971 NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760
JBrowse link
G PDCD10 programmed cell death 10 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 More... NCBI chr34:32,512,109...32,553,524
Ensembl chr34:32,512,112...32,553,445
JBrowse link
G PITPNM3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:30,772,794...30,820,725
Ensembl chr 5:30,754,963...30,819,443
JBrowse link
G PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr29:17,458,098...17,738,069
Ensembl chr29:17,458,281...17,735,170
JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 6:42,584,792...42,605,201
Ensembl chr 6:42,584,798...42,605,136
JBrowse link
G SCUBE2 signal peptide, CUB domain and EGF like domain containing 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr21:32,370,361...32,435,608
Ensembl chr21:32,370,913...32,574,588
JBrowse link
G SYN3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:30,475,134...30,927,758
Ensembl chr10:30,482,870...30,923,257
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G ZFYVE16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 3:26,662,750...26,714,184
Ensembl chr 3:26,664,068...26,699,073
JBrowse link
CADASIL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRIP ATR interacting protein ISO ClinVar Annotator: match by term: CASIL ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 More... NCBI chr20:40,626,828...40,642,689
Ensembl chr20:40,626,831...40,642,594
JBrowse link
G HTRA1 HtrA serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr28:32,133,779...32,157,835
Ensembl chr28:32,132,547...32,157,409
JBrowse link
G NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: CASIL | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type ClinVar PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 More... NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219
JBrowse link
G TREX1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: CASIL ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 More... NCBI chr20:40,624,845...40,626,840
Ensembl chr20:40,624,891...40,626,906
JBrowse link
CADASIL 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | ClinVar Annotator: match by term: Recurrent subcortical infarcts OMIM
ClinVar
PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 More... NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219
JBrowse link
CADASIL2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTRA1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | ClinVar 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 chr28:32,133,779...32,157,835
Ensembl chr28:32,132,547...32,157,409
JBrowse link
G NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 ClinVar PMID:28492532 NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219
JBrowse link
cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOC3 amine oxidase copper containing 3 ISO associated with Alzheimer Disease;protein:increased expression:brain RGD PMID:17393059 RGD:2313919 NCBI chr 9:20,158,581...20,179,773
Ensembl chr 9:20,157,410...20,241,376
JBrowse link
G APOA1 apolipoprotein A1 ISO RGD PMID:20739292 RGD:5508213 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943
JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:11061249 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G APP amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21520056 NCBI chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337
JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:21107133 RGD:5148012 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
JBrowse link
G CCR1 chemokine (C-C motif) receptor 1 ISO RGD PMID:14595653 RGD:5688166 NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
JBrowse link
G ITM2B integral membrane protein 2B ISO MouseDO NCBI chr22:3,255,139...3,261,440
Ensembl chr22:3,255,631...3,261,433
JBrowse link
G MME membrane metalloendopeptidase severity ISO associated with Alzheimer Disease;protein:decreased expression:frontal lobe cortex (human) RGD PMID:17021406 PMID:21382117 RGD:13801026 RGD:1600811 NCBI chr23:48,966,222...49,059,919
Ensembl chr23:48,971,066...49,059,919
JBrowse link
G OLR1 oxidized low density lipoprotein receptor 1 ISO RGD PMID:16328515 RGD:1580993 NCBI chr27:35,828,852...35,838,748
Ensembl chr27:35,828,029...35,838,754
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 2:76,427,112...76,551,494
Ensembl chr 2:76,428,203...76,612,786
JBrowse link
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTRA1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: CARASIL | ClinVar Annotator: match by term: CARASIL syndrome | ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease | ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease OMIM
ClinVar
PMID:11889251 PMID:18316707 PMID:19387015 PMID:20437615 PMID:21115960 More... NCBI chr28:32,133,779...32,157,835
Ensembl chr28:32,132,547...32,157,409
JBrowse link
G PURA purine rich element binding protein A ISO ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease ClinVar PMID:24500651 PMID:25342064 NCBI chr 2:35,325,630...35,345,366
Ensembl chr 2:35,330,902...35,332,835
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 ISO ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome ClinVar NCBI chr 1:80,992,992...81,178,362
Ensembl chr 1:80,992,863...81,177,674
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 ISO ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis ClinVar PMID:25604855 PMID:25741868 PMID:28492532 NCBI chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337
JBrowse link
G LOC607874 cystatin-C-like ISO ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type OMIM
ClinVar
PMID:2363674 PMID:2567273 PMID:2900981 PMID:8108423 PMID:11815350 More... NCBI chr23:49,562...53,618 JBrowse link
intracranial aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Experimental RGD PMID:23844137 RGD:8547935 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
JBrowse link
G AOC3 amine oxidase copper containing 3 ISO protein:decreased expression:cerebral artery RGD PMID:18312104 RGD:2313912 NCBI chr 9:20,158,581...20,179,773
Ensembl chr 9:20,157,410...20,241,376
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:25316629 RGD:11522723 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G CCDC180 coiled-coil domain containing 180 ISO ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 NCBI chr11:54,676,397...54,740,783
Ensembl chr11:54,675,979...54,740,428
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:circle of Willis (rat) RGD PMID:19164781 PMID:25316629 RGD:11522723 RGD:2307000 NCBI chr 9:39,008,187...39,009,932 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 6:62,443,285...62,446,246
Ensembl chr 6:62,443,675...62,445,994
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO RGD PMID:14739420 RGD:1581199 NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
JBrowse link
G COL22A1 collagen type XXII alpha 1 chain susceptibility ISO DNA:SNPs:cds:multiple(human) RGD PMID:30541770 RGD:13831344 NCBI chr13:33,735,490...33,996,229
Ensembl chr13:33,735,656...33,996,401
JBrowse link
G CTSB cathepsin B ISO mRNA, protein:increased expression, increased activity:Circle of Willis (rat)
protein:increased expression:cerebral aneurysm (human)
RGD PMID:18635848 RGD:2306495 NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801
JBrowse link
G CTSK cathepsin K ISO mRNA:increased expression:brain, artery
protein:increased expression:brain, artery
RGD PMID:18635848 RGD:2306495 NCBI chr17:59,928,725...59,938,293
Ensembl chr17:59,929,287...59,938,507
JBrowse link
G CTSS cathepsin S ISO mRNA:increased expression:brain, artery
protein:increased expression:brain, artery
RGD PMID:18635848 RGD:2306495 NCBI chr17:59,893,840...59,910,878
Ensembl chr17:59,893,840...59,910,849
JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:serum RGD PMID:32602008 RGD:155882593 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
JBrowse link
G ENG endoglin ISO DNA:missense mutation:exon 2:c.179-180CC>AA, p.A60E RGD PMID:10223461 PMID:19299629 RGD:1580964 RGD:329845530 NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064
JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Brain aneurysm ClinVar PMID:16835936 PMID:19006240 PMID:25525159 PMID:25741868 PMID:26038974 More... NCBI chr11:17,311,238...17,551,536
Ensembl chr11:17,311,226...17,551,536
JBrowse link
G IL6 interleukin 6 ISO RGD PMID:16648144 RGD:1580488 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G KLF5 KLF transcription factor 5 ISO protein:increased expression:artery RGD PMID:30201338 RGD:155883158 NCBI chr22:27,163,179...27,185,241
Ensembl chr22:27,162,397...27,200,871
JBrowse link
G KMT2D lysine methyltransferase 2D susceptibility ISO DNA:SNP: :rs3782356(human) RGD PMID:30121816 RGD:155582216 NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490
JBrowse link
G LOC607874 cystatin-C-like ISO protein:decreased expression:brain, artery
mRNA:decreased expression:brain, artery
RGD PMID:18635848 RGD:2306495 NCBI chr23:49,562...53,618 JBrowse link
G MIR143 microRNA mir-143 ISO RNA:decreased expression:artery
RNA:decreased expression:serum
RGD PMID:30201338 PMID:32602008 RGD:155882593 RGD:155883158 NCBI chr 4:59,534,535...59,534,589
Ensembl chr 4:59,534,535...59,534,594
JBrowse link
G MIR145 microRNA mir-145 ISO RNA:decreased expression:serum RGD PMID:30201338 RGD:155883158 NCBI chr 4:59,533,128...59,533,210
Ensembl chr 4:59,533,128...59,533,210
JBrowse link
G MMP12 matrix metallopeptidase 12 no_association ISO RGD PMID:11546917 RGD:1582365 NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO RGD PMID:9724118 RGD:1582590 NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122
JBrowse link
G MMP2 matrix metallopeptidase 2 susceptibility ISO mRNA:increased expression:blood vessel RGD PMID:9724118 PMID:16961137 PMID:17569872 RGD:1582590 RGD:1582646 RGD:2290352 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP9 matrix metallopeptidase 9 susceptibility
treatment
ISO mRNA, protein:increased expression:artery
mRNA:increased expression:blood vessel
associated with Diabetes Mellitus, Experimental
RGD PMID:9310982 PMID:16961137 PMID:17122420 PMID:17569872 PMID:21937941 More... RGD:13204853 RGD:13204858 RGD:155882593 RGD:1582646 RGD:1642055 RGD:2290352 RGD:8547935 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MYOCD myocardin ameliorates ISO RGD PMID:25868147 RGD:401793751 NCBI chr 5:36,674,476...36,774,435
Ensembl chr 5:36,674,300...36,769,327
JBrowse link
G NCF1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19381132 NCBI chr 6:5,702,222...5,719,515
Ensembl chr 6:5,605,694...5,719,458
JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:21321533 RGD:5131897 NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332
JBrowse link
G NOS3 nitric oxide synthase 3 ISO RGD PMID:21321533 RGD:5131897 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr32:11,383,441...11,437,603
Ensembl chr32:11,383,424...11,435,438
JBrowse link
G PLAU plasminogen activator, urokinase ISO RGD PMID:21786025 RGD:6483795 NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851
JBrowse link
G SOX17 SRY-box transcription factor 17 no_association
susceptibility
ISO protein:decreased expression:middle cerebral artery (human)
DNA:SNP:enhancer: (rs10958409) (human)
DNA:SNP:enhancer: (rs1072737) (human)
RGD PMID:18997786 PMID:20364137 PMID:22961961 PMID:25596186 PMID:29191544 More... RGD:329853324 RGD:329853325 RGD:329853736 RGD:329955463 RGD:329955465 RGD:329955568 RGD:329955569 NCBI chr29:5,979,092...5,981,504
Ensembl chr29:5,979,261...5,981,124
JBrowse link
G SYCP1 synaptonemal complex protein 1 ISO ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 PMID:28492532 NCBI chr17:52,538,909...52,681,495
Ensembl chr17:52,539,615...52,648,133
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:17569872 RGD:2290352 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO mRNA:increased expression:blood vessel RGD PMID:17569872 RGD:2290352 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:24628611 RGD:10450592 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G VCAN versican ISO DNA:SNP: :rs173686 (human) RGD PMID:16917090 RGD:1598495 NCBI chr 3:24,127,293...24,238,859
Ensembl chr 3:24,119,181...24,239,192
JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA,protein:increased expression:artery RGD PMID:32602008 RGD:155882593 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G VWF von Willebrand factor ISO protein:increased expression:serum, artery RGD PMID:32602008 RGD:155882593 NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142
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 ISO ClinVar Annotator: match by term: Aneurysm, intracranial berry, 12 OMIM
ClinVar
PMID:25741868 PMID:27895300 NCBI chr25:197,294...223,804
Ensembl chr25:201,301...223,560
JBrowse link
ITM2B-related cerebral amyloid angiopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Presenile dementia with spastic ataxia OMIM
ClinVar
PMID:10391242 PMID:21610757 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr22:3,255,139...3,261,440
Ensembl chr22:3,255,631...3,261,433
JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica OMIM
ClinVar
PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr22:3,255,139...3,261,440
Ensembl chr22:3,255,631...3,261,433
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 chr21:39,963,001...40,037,040
Ensembl chr21:39,962,947...40,036,981
JBrowse link
G ACE angiotensin I converting enzyme treatment ISO RGD PMID:24471927 RGD:11039026 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:brain RGD PMID:24090950 RGD:9685436 NCBI chr  X:11,798,839...11,839,591
Ensembl chr  X:11,798,839...11,900,594
JBrowse link
G ACVR1 activin A receptor type 1 ISO RGD PMID:33345977 RGD:329845521 NCBI chr36:3,743,257...3,818,659
Ensembl chr36:3,744,163...3,818,652
JBrowse link
G ACVR2B activin A receptor type 2B ISO mRNA:increased expression:brain (mouse) RGD PMID:33763412 RGD:329849104 NCBI chr23:8,211,555...8,225,596
Ensembl chr23:8,192,483...8,218,894
JBrowse link
G ADORA1 adenosine A1 receptor ISO CTD Direct Evidence: therapeutic CTD PMID:23437309 NCBI chr 7:44,819...74,217
Ensembl chr 7:44,820...73,051
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Experimental
CTD
RGD
PMID:24211797 PMID:25446913 RGD:8696008 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
JBrowse link
G AGT angiotensinogen ISO protein:increased expression:brain, serum RGD PMID:24090950 RGD:9685436 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO protein:altered localization: : RGD PMID:15181376 RGD:10047403 NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367
JBrowse link
G AK1 adenylate kinase 1 ISO protein:decreased expression:cerebral cortex (rat) RGD PMID:16468349 RGD:5508760 NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132
JBrowse link
G ALB albumin treatment ISO RGD PMID:22227456 RGD:11036100 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19309543 NCBI chr28:2,170,920...2,218,765
Ensembl chr28:2,170,920...2,219,609
JBrowse link
G AP2B1 adaptor related protein complex 2 subunit beta 1 ISO protein:increased degradation:brain RGD PMID:19240038 RGD:13461853 NCBI chr 9:37,946,761...38,078,074
Ensembl chr 9:37,946,788...38,078,041
JBrowse link
G APAF1 apoptotic peptidase activating factor 1 treatment ISO RGD PMID:24012531 RGD:13703113 NCBI chr15:38,026,893...38,160,842
Ensembl chr15:38,028,132...38,114,987
JBrowse link
G APOE apolipoprotein E ISO RGD PMID:19623195 RGD:6903926 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G APP amyloid beta precursor protein treatment ISO RGD PMID:28963051 RGD:13782054 NCBI chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337
JBrowse link
G AQP4 aquaporin 4 treatment ISO RGD PMID:20815926 PMID:33127515 RGD:155646130 RGD:8695955 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
JBrowse link
G ARC activity regulated cytoskeleton associated protein ISO RGD PMID:22645329 RGD:10395314 NCBI chr13:36,743,027...36,744,266 JBrowse link
G ATF3 activating transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 7:10,784,445...10,795,285
Ensembl chr 7:10,782,064...10,794,163
JBrowse link
G B9D2 B9 domain containing 2 ameliorates ISO RGD PMID:28630232 PMID:31409163 RGD:14995477 RGD:242905192 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G BAD BCL2 associated agonist of cell death treatment ISO RGD PMID:21891976 PMID:22200499 RGD:10053665 RGD:10053704 NCBI chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:23143152 RGD:10054501 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BCAN brevican ISO RGD PMID:15869933 RGD:9590118 NCBI chr 7:41,313,578...41,330,178
Ensembl chr 7:41,313,579...41,330,178
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:23143152 RGD:10054501 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO RGD PMID:20417695 PMID:35218623 RGD:401960864 RGD:4891138 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G BECN1 beclin 1 treatment ISO RGD PMID:22108007 RGD:11561900 NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236
JBrowse link
G BNIP3 BCL2 interacting protein 3 ISO protein:increased expression:brain RGD PMID:17379825 RGD:9685412 NCBI chr28:40,037,681...40,050,499
Ensembl chr28:40,038,643...40,049,797
JBrowse link
G BNIP3L BCL2 interacting protein 3 like ISO RGD PMID:15902200 PMID:21029239 RGD:2314138 RGD:9068917 NCBI chr25:31,133,512...31,149,750
Ensembl chr25:31,136,168...31,148,905
JBrowse link
G C1QTNF6 C1q and TNF related 6 ameliorates ISO RGD PMID:35322553 RGD:242905190 NCBI chr10:27,340,547...27,349,183
Ensembl chr10:27,340,623...27,348,494
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma
CTD
RGD
PMID:22103620 PMID:23199288 RGD:7175514 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha ISO RGD PMID:14688616 RGD:1358416 NCBI chr 4:58,800,818...58,865,830
Ensembl chr 4:58,800,813...58,865,830
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:21891976 PMID:23143152 PMID:26868427 RGD:10053704 RGD:10054501 RGD:13782346 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
JBrowse link
G CASP6 caspase 6 ISO RGD PMID:26868427 RGD:13782346 NCBI chr32:29,897,706...29,910,522
Ensembl chr32:29,897,823...29,911,469
JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:26868427 RGD:13782346 NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:12374626 PMID:23043544 PMID:25257527 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCL7 C-C motif chemokine ligand 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 9:38,994,638...38,996,103
Ensembl chr 9:38,993,911...39,010,483
JBrowse link
G CD36 CD36 molecule (CD36 blood group) treatment ISO RGD PMID:25216018 RGD:11041113 NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639
JBrowse link
G CD86 CD86 molecule ISO protein:increased expression:brain subventricular zone, microglial cell (rat) RGD PMID:19053043 RGD:2313025 NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
JBrowse link
G CDK5 cyclin dependent kinase 5 ISO RGD PMID:24920629 RGD:13782375 NCBI chr16:15,105,177...15,113,085
Ensembl chr16:15,101,230...15,109,269
JBrowse link
G CLDN5 claudin 5 treatment ISO RGD PMID:24842554 RGD:13204729 NCBI chr26:29,702,464...29,704,950
Ensembl chr26:29,703,683...29,704,339
JBrowse link
G CREB1 cAMP responsive element binding protein 1 treatment ISO RGD PMID:35218623 RGD:401960864 NCBI chr37:15,921,214...15,978,492
Ensembl chr37:15,939,138...15,977,556
JBrowse link
G CRH corticotropin releasing hormone ISO protein:decreased expression:median eminence of hypothalamus (rat) RGD PMID:21741032 RGD:5490538 NCBI chr29:15,831,944...15,840,560
Ensembl chr29:15,831,944...15,834,384
JBrowse link
G CRP C-reactive protein ISO RGD PMID:15545914 RGD:9585995 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G CRSP-3 calcitonin receptor-stimulating peptide 3 treatment ISO RGD PMID:30531687 RGD:329849008 NCBI chr21:37,676,841...37,680,643
Ensembl chr21:37,676,841...37,680,645
JBrowse link
G CRTC1 CREB regulated transcription coactivator 1 treatment ISO RGD PMID:20417695 RGD:4891138 NCBI chr20:44,315,021...44,394,385
Ensembl chr20:44,319,858...44,394,599
JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO mRNA, protein:increased expression:brain: RGD PMID:15530654 PMID:19298757 RGD:11039420 RGD:11039425 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO RGD PMID:10825390 RGD:632989 NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247
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:55,882,433...55,884,582
Ensembl chr  X:55,882,433...55,884,582
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO RGD PMID:23002367 RGD:14700877 NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754
JBrowse link
G DICER1 dicer 1, ribonuclease III ISO mRNA:decreased expression:brain: RGD PMID:26294080 RGD:11553310 NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO RGD PMID:11726790 RGD:9588643 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO RGD PMID:23516428 RGD:9589049 NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902
JBrowse link
G DYNLL1 dynein light chain LC8-type 1 ISO RGD PMID:9522364 RGD:13208524 NCBI chr26:16,369,878...16,402,302
Ensembl chr26:16,398,886...16,402,021
Ensembl chr26:16,398,886...16,402,021
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17197033 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
JBrowse link
G EGR1 early growth response 1 ISO RGD PMID:22645329 RGD:10395314 NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575
JBrowse link
G EGR2 early growth response 2 ISO RGD PMID:22645329 RGD:10395314 NCBI chr 4:14,705,384...14,810,130
Ensembl chr 4:14,706,600...14,709,497
JBrowse link
G EGR4 early growth response 4 ISO RGD PMID:22645329 RGD:10395314 NCBI chr17:49,575,964...49,580,697
Ensembl chr17:49,575,466...49,578,251
JBrowse link
G EIF2S1 eukaryotic translation initiation factor 2 subunit alpha treatment ISO RGD PMID:19763736 PMID:23669639 RGD:10395346 RGD:10755569 NCBI chr 8:41,354,400...41,371,676
Ensembl chr 8:41,351,244...41,371,056
JBrowse link
G ELANE elastase, neutrophil expressed treatment ISO RGD PMID:10700596 RGD:10450546 NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932
JBrowse link
G ENG endoglin ISO RGD PMID:24876084 RGD:11041171 NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064
JBrowse link
G EPCAM epithelial cell adhesion molecule ISO RGD PMID:15950761 RGD:11038820 NCBI chr10:49,446,165...49,498,690
Ensembl chr10:49,485,746...49,498,475
JBrowse link
G EPHB2 EPH receptor B2 treatment ISO mRNA,protein:increased expression: cortex, cerebral cortex subventricular zone RGD PMID:16321245 RGD:1642069 NCBI chr 2:76,427,112...76,551,494
Ensembl chr 2:76,428,203...76,612,786
JBrowse link
G EPN1 epsin 1 ISO protein:increased degradation:brain RGD PMID:19240038 RGD:13461853 NCBI chr 1:102,059,022...102,073,665
Ensembl chr 1:102,059,181...102,073,561
JBrowse link
G EPO erythropoietin treatment ISO RGD PMID:20547143 PMID:20833153 RGD:10400898 RGD:10401066 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:9974119 RGD:10401103 NCBI chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162
JBrowse link
G F11 coagulation factor XI ISO RGD PMID:16533887 RGD:11041786 NCBI chr16:44,469,609...44,492,833
Ensembl chr16:44,469,632...44,540,292
JBrowse link
G F12 coagulation factor XII treatment ISO RGD PMID:16533887 RGD:11041786 NCBI chr 4:35,950,642...35,968,137
Ensembl chr 4:35,950,695...35,998,025
JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29651748 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
JBrowse link
G FADD Fas associated via death domain treatment ISO RGD PMID:18950622 PMID:23378241 RGD:11341807 RGD:11344885 NCBI chr18:48,087,447...48,094,497 JBrowse link
G FGF2 fibroblast growth factor 2 treatment ISO RGD PMID:30531687 RGD:329849008 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
JBrowse link
G FGF21 fibroblast growth factor 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 1:107,571,449...107,576,630
Ensembl chr 1:107,571,446...107,573,281
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467
JBrowse link
G GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 4:49,208,691...49,225,754
Ensembl chr 4:49,208,605...49,226,212
JBrowse link
G GAP43 growth associated protein 43 treatment ISO RGD PMID:30531687 RGD:329849008 NCBI chr33:19,668,491...19,770,509
Ensembl chr33:19,656,835...19,770,408
JBrowse link
G GCH1 GTP cyclohydrolase 1 treatment ISO RGD PMID:24956890 RGD:401717568 NCBI chr 8:30,733,422...30,784,067
Ensembl chr 8:30,732,608...30,784,156
JBrowse link
G GDNF glial cell derived neurotrophic factor treatment ISO RGD PMID:29497380 RGD:40925919 NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
JBrowse link
G GHRL ghrelin and obestatin prepropeptide treatment ISO RGD PMID:19352052 RGD:9850083 NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510
JBrowse link
G GHSR growth hormone secretagogue receptor ISO RGD PMID:19352052 RGD:9850083 NCBI chr34:36,691,132...36,694,304
Ensembl chr34:36,690,224...36,694,312
JBrowse link
G GLUL glutamate-ammonia ligase treatment ISO protein:increased expression:eye
protein:increased expression:cerebrum, astrocyte
RGD PMID:23595285 PMID:24518488 PMID:26024074 PMID:26093193 RGD:401794420 RGD:401794586 RGD:401794587 RGD:401794592 NCBI chr 7:15,730,898...15,740,241
Ensembl chr 7:15,730,898...15,740,241
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 treatment ISO RGD PMID:26674869 RGD:11068571 NCBI chr 9:48,492,967...48,513,981
Ensembl chr 9:48,493,287...48,509,050
JBrowse link
G GRN granulin precursor treatment ISO RGD PMID:23972823 RGD:10401661 NCBI chr 9:19,077,430...19,085,443
Ensembl chr 9:19,077,427...19,082,268
JBrowse link
G GRPEL1 GrpE like 1, mitochondrial ISO mRNA:increased expression:cerebral cortex RGD PMID:12505684 RGD:632868 NCBI chr 3:59,124,116...59,131,541
Ensembl chr 3:59,124,613...59,131,977
JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO RGD PMID:28440874 RGD:13792734 NCBI chr33:23,458,369...23,659,878
Ensembl chr33:23,463,767...23,659,666
JBrowse link
G GSN gelsolin ameliorates ISO RGD PMID:9927495 PMID:18234195 RGD:329333031 RGD:329333033 NCBI chr11:74,248,227...74,268,129
Ensembl chr11:74,233,457...74,268,129
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA, protein:increased expression:cerebral cortex, hippocampus, corpus striatum RGD PMID:21957487 RGD:11041635 NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619
JBrowse link
G HAS2 hyaluronan synthase 2 ISO mRNA:increased expression:brain RGD PMID:11283406 RGD:9588631 NCBI chr13:20,310,946...20,342,647
Ensembl chr13:20,309,872...20,341,636
JBrowse link
G HDAC2 histone deacetylase 2 exacerbates ISO RGD PMID:32239566 RGD:155883173 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578
JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO mRNA,protein:decreased expression:brain: RGD PMID:23480850 RGD:9681449 NCBI chr25:49,318,621...49,545,314
Ensembl chr25:49,317,349...49,453,478
JBrowse link
G HDAC5 histone deacetylase 5 treatment ISO mRNA,protein:decreased expression:brain: RGD PMID:23480850 RGD:9681449 NCBI chr 9:19,261,075...19,297,669
Ensembl chr 9:19,260,893...19,297,623
JBrowse link
G HDAC9 histone deacetylase 9 ISO mRNA:increased expression:brain: RGD PMID:23480850 RGD:9681449 NCBI chr14:32,469,349...33,310,439
Ensembl chr14:32,588,414...33,304,387
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:21029239 RGD:9068917 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
JBrowse link
G HMGB1 high mobility group box 1 treatment ISO RGD PMID:23480850 RGD:9681449 NCBI chr25:9,431,223...9,558,167
Ensembl chr25:9,431,218...9,558,165
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:20888632 PMID:23870531 PMID:24252362 RGD:10755587 RGD:10755588 RGD:10755755 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
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 chr11:21,290,603...21,363,701
Ensembl chr11:21,290,621...21,505,122
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr37:7,010,421...7,025,912 JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO protein:increased expression:brain, cytosol (rat)
protein:increased expression:brain, cytosol (mouse)
RGD PMID:15306124 PMID:16978742 RGD:2314385 RGD:5688372 NCBI chr17:48,610,408...48,613,399
Ensembl chr17:48,610,408...48,613,399
JBrowse link
G HVCN1 hydrogen voltage gated channel 1 ISO RGD PMID:31250553 RGD:14985213 NCBI chr26:8,437,032...8,474,831
Ensembl chr26:8,419,269...8,466,523
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO RGD PMID:16286924 RGD:10045955 NCBI chr16:23,359,551...23,419,114
Ensembl chr16:23,359,813...23,419,075
JBrowse link
G IL10 interleukin 10 ameliorates ISO RGD PMID:28630232 RGD:242905192 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL11 interleukin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 1:102,311,960...102,319,102
Ensembl chr 1:102,316,105...102,318,653
JBrowse link
G IL13 interleukin 13 ISO protein:increased expression:cerebral cortex RGD PMID:23028794 RGD:7204480 NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
JBrowse link
G IL1B interleukin 1 beta treatment
ameliorates
ISO protein:increased expression:cerebral cortex (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:23028794 PMID:24916922 PMID:25257527 PMID:29498696 PMID:35322553 RGD:10450594 RGD:13792833 RGD:242905190 RGD:7204480 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL1RN interleukin 1 receptor antagonist treatment ISO human gene in a rat model RGD PMID:7790404 RGD:8551708 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G IL22 interleukin 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr10:10,487,367...10,492,238
Ensembl chr10:10,487,262...10,492,371
JBrowse link
G IL4 interleukin 4 ISO protein:increased expression:cerebral cortex RGD PMID:23028794 RGD:7204480 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G IL5 interleukin 5 ISO RGD PMID:23028794 RGD:7204480 NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
JBrowse link
G IL6 interleukin 6 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:12374626 PMID:21940958 PMID:25257527 PMID:29498696 RGD:13792833 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G IL6R interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090
JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer ISO CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr 2:43,214,050...43,273,014
Ensembl chr 2:43,214,050...43,248,124
JBrowse link
G IL7R interleukin 7 receptor ISO protein:increased expression:brain: RGD PMID:30676545 RGD:151347693 NCBI chr 4:72,633,528...72,668,242
Ensembl chr 4:72,636,325...72,668,300
JBrowse link
G INA internexin neuronal intermediate filament protein alpha ISO RGD PMID:29967576 RGD:27226878 NCBI chr28:15,670,919...15,685,080
Ensembl chr28:15,670,999...15,683,380
JBrowse link
G INHBA inhibin subunit beta A ISO RGD PMID:33345977 RGD:329845521 NCBI chr18:8,272,978...8,288,432
Ensembl chr18:8,272,872...8,283,794
JBrowse link
G IRF4 interferon regulatory factor 4 ISO RGD PMID:25652434 RGD:11530061 NCBI chr35:760,367...782,314
Ensembl chr35:767,011...781,339
JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442
JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 ameliorates ISO RGD PMID:21750563 PMID:25477223 PMID:26661208 RGD:329955444 RGD:329955572 RGD:401700383 NCBI chr 1:111,391,464...111,407,612
Ensembl chr 1:111,391,159...111,407,701
JBrowse link
G LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like ISO RGD PMID:25882840 RGD:13792686 NCBI chr  X:51,925,654...51,926,724 JBrowse link
G MAG myelin associated glycoprotein treatment ISO RGD PMID:15678116 RGD:9685232 NCBI chr 1:117,288,306...117,301,975
Ensembl chr 1:117,288,343...117,302,386
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:27152455 PMID:35218623 RGD:13800881 RGD:401960864 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:27152455 PMID:35218623 RGD:13800881 RGD:401960864 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425
JBrowse link
G MAPT microtubule associated protein tau treatment ISO RGD PMID:25903928 PMID:28886009 RGD:13800886 RGD:13800913 NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349
JBrowse link
G MIR107 microRNA mir-107 ISO RNA:increased expression:brain RGD PMID:26294080 RGD:11553310 NCBI chr28:4,484,653...4,484,710
Ensembl chr28:4,484,646...4,484,718
JBrowse link
G MIR132 microRNA mir-132 treatment ISO mRNA:decreased expression:brain (mouse) RGD PMID:33763412 RGD:329849104 NCBI chr 9:46,153,531...46,153,590
Ensembl chr 9:46,153,511...46,153,611
JBrowse link
G MIR140 microRNA mir-140 ameliorates ISO miRNA:decreased expression:cerebral cortex (rat) RGD PMID:27035554 PMID:33246036 RGD:329337375 RGD:329337377 NCBI chr 5:79,814,256...79,814,316
Ensembl chr 5:79,814,246...79,814,326
JBrowse link
G MIR19A microRNA mir-19a ISO RNA:decreased expression:brain (mouse) RGD PMID:32335212 RGD:156451661 NCBI chr22:42,478,298...42,478,355
Ensembl chr22:42,478,285...42,478,366
JBrowse link
G MIR29B-1 microRNA mir-29b-1 exacerbates ISO RGD PMID:35322553 RGD:242905190 NCBI chr14:6,184,457...6,184,521
Ensembl chr14:6,184,446...6,184,531
JBrowse link
G MIR494 microRNA mir-494 ameliorates ISO RGD PMID:31465536 PMID:32239566 RGD:155883173 RGD:156430320 NCBI chr 8:69,261,385...69,261,465
Ensembl chr 8:69,261,385...69,261,465
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19309543 PMID:24842554 RGD:13204729 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MT-III transcription initiation factor TFIID subunit 4 ISO protein:decreased expression:brain RGD PMID:8869568 RGD:9685807 NCBI chr 2:59,624,845...59,630,386 JBrowse link
G MTOR mechanistic target of rapamycin kinase treatment ISO RGD PMID:21185267 PMID:23777415 PMID:24583056 RGD:10040971 RGD:10040974 RGD:10041016 NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 ISO RGD PMID:21386696 RGD:13801046 NCBI chr 5:82,462,690...82,486,097
Ensembl chr 5:82,462,744...82,486,100
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase treatment ISO RGD PMID:28495827 RGD:13781880 NCBI chr18:14,110,045...14,211,268
Ensembl chr18:13,993,022...14,208,657
JBrowse link
G NCAM1 neural cell adhesion molecule 1 treatment ISO RGD PMID:29497380 PMID:32962079 RGD:40924633 RGD:40925919 NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995
JBrowse link
G NEFH neurofilament heavy chain ISO RGD PMID:29967576 RGD:27226878 NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125
JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:brain RGD PMID:29967576 RGD:27226878 NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
JBrowse link
G NEFM neurofilament medium chain ISO protein:altered expression:brain RGD PMID:29967576 RGD:27226878 NCBI chr25:32,493,517...32,498,615
Ensembl chr25:32,493,675...32,498,570
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO RGD PMID:23880501 PMID:24466583 RGD:10412696 RGD:10412714 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
JBrowse link
G NFKBIA NFKB inhibitor alpha treatment ISO RGD PMID:21122797 RGD:10413868 NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433
JBrowse link
G NGF nerve growth factor treatment ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:10408807 PMID:29409115 RGD:402463967 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
JBrowse link
G NGFR nerve growth factor receptor treatment ISO RGD PMID:22678884 RGD:10413900 NCBI chr 9:25,598,468...25,621,021
Ensembl chr 9:25,601,074...25,623,274
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 treatment ISO RGD PMID:24842554 RGD:13204729 NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232
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 chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
JBrowse link
G NOX1 NADPH oxidase 1 treatment ISO RGD PMID:30816157 RGD:329955567 NCBI chr  X:74,784,627...74,811,796
Ensembl chr  X:74,785,168...74,811,698
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO protein:increased expression:brain RGD PMID:21120604 PMID:25069640 RGD:11035212 RGD:5133239 NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860
JBrowse link
G NRG1 neuregulin 1 treatment ISO RGD PMID:20691195 RGD:10449015 NCBI chr16:31,697,958...32,771,888
Ensembl chr16:31,706,851...32,771,932
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase treatment ISO associated with Hypertension RGD PMID:17920569 RGD:8657395 NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264
JBrowse link
G PARK7 Parkinsonism associated deglycase treatment ISO RGD PMID:17882163 RGD:13463450 NCBI chr 5:61,576,219...61,592,325
Ensembl chr 5:61,576,069...61,592,303
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 treatment ISO RGD PMID:21311064 PMID:23143152 PMID:23801245 PMID:25882840 RGD:10054501 RGD:11073732 RGD:13792686 RGD:5683909 NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127
JBrowse link
G PAWR pro-apoptotic WT1 regulator treatment ISO protein:increased expression:brain: RGD PMID:11323519 PMID:16403464 PMID:19352052 RGD:9835380 RGD:9835381 RGD:9850083 NCBI chr15:22,114,014...22,159,287 JBrowse link
G PDGFRA platelet derived growth factor receptor alpha treatment ISO RGD PMID:16917016 RGD:11084934 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278
JBrowse link
G PDGFRB platelet derived growth factor receptor beta treatment ISO RGD PMID:16917016 RGD:11084934 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
JBrowse link
G PLAT plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:12297567 PMID:14512838 PMID:17690543 PMID:18453163 PMID:20547619 More... RGD:1580876 NCBI chr16:23,469,590...23,496,013 JBrowse link
G PLAU plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:11677890 PMID:15181847 PMID:17702958 NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851
JBrowse link
G PLD1 phospholipase D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr34:35,917,759...36,080,383
Ensembl chr34:35,921,058...36,121,631
JBrowse link
G PRKCG protein kinase C gamma ISO RGD PMID:14688616 RGD:1358416 NCBI chr 1:103,295,110...103,312,562 JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:24159062 RGD:11100027 NCBI chr19:23,173,626...23,183,634
Ensembl chr19:23,173,635...23,183,563
JBrowse link
G PTPRZ1 protein tyrosine phosphatase receptor type Z1 ISO mRNA:increased expression:cerebral cortex RGD PMID:15869933 RGD:9590118 NCBI chr14:59,769,553...59,944,111
Ensembl chr14:59,827,650...59,943,315
JBrowse link
G RBFOX3 RNA binding fox-1 homolog 3 treatment ISO RGD PMID:30531687 RGD:329849008 NCBI chr 9:2,362,354...2,374,492
Ensembl chr 9:2,362,231...2,372,739
JBrowse link
G RELN reelin severity ISO RGD PMID:16438965 RGD:13207538 NCBI chr18:16,275,822...16,773,875
Ensembl chr18:16,275,837...16,773,875
JBrowse link
G RGMA repulsive guidance molecule BMP co-receptor a treatment ISO RGD PMID:21840379 PMID:23275173 RGD:9850121 RGD:9850122 NCBI chr 3:47,044,342...47,089,923
Ensembl chr 3:47,061,910...47,089,294
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO mRNA:increased expression:brain RGD PMID:24672479 RGD:11251714 NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839
JBrowse link
G S100A5 S100 calcium binding protein A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 7:43,497,738...43,501,010
Ensembl chr 7:43,491,466...43,500,936
JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:cerebrum, astrocyte RGD PMID:23595285 RGD:401794586 NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183
JBrowse link
G SERPINE1 serpin family E member 1 ISO RGD PMID:14512838 RGD:1580876 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G SERPINF1 serpin family F member 1 treatment ISO RGD PMID:22714093 RGD:8655545 NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
JBrowse link
G SERPINH1 serpin family H member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr21:23,032,761...23,041,649
Ensembl chr21:23,032,767...23,041,625
JBrowse link
G SHH sonic hedgehog signaling molecule treatment ISO RGD PMID:22324418 RGD:12879461 NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
JBrowse link
G SIRT1 sirtuin 1 treatment ISO RGD PMID:23600725 RGD:9585664 NCBI chr 4:19,188,616...19,220,031
Ensembl chr 4:19,188,675...19,218,279
JBrowse link
G SLC12A2 solute carrier family 12 member 2 treatment ISO protein:increased expression:brain: RGD PMID:12535773 PMID:27798271 RGD:14398833 RGD:1580583 NCBI chr11:17,143,943...17,256,248
Ensembl chr11:17,143,943...17,253,695
JBrowse link
G SLC1A2 solute carrier family 1 member 2 treatment ISO RGD PMID:20423712 RGD:401794585 NCBI chr18:32,565,258...32,717,052
Ensembl chr18:32,565,258...32,709,225
JBrowse link
G SLC2A1 solute carrier family 2 member 1 treatment ISO RGD PMID:9419067 RGD:12879855 NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140
JBrowse link
G SLC9A1 solute carrier family 9 member A1 treatment ISO RGD PMID:31250553 RGD:14985213 NCBI chr 2:73,054,742...73,103,364
Ensembl chr 2:73,054,742...73,103,364
JBrowse link
G SLPI secretory leukocyte peptidase inhibitor treatment ISO RGD PMID:14500739 RGD:9999390 NCBI chr24:32,566,030...32,568,406
Ensembl chr24:32,566,026...32,568,420
JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:23499832 PMID:23696546 RGD:12832759 RGD:12879404 NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033
JBrowse link
G SMOX spermine oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30576531 NCBI chr24:17,240,910...17,291,258
Ensembl chr24:17,252,537...17,300,451
JBrowse link
G SNAP91 synaptosome associated protein 91 ISO protein:increased degradation:brain RGD PMID:19240038 RGD:13461853 NCBI chr12:43,919,925...44,058,315
Ensembl chr12:43,919,925...44,058,616
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 chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G SPHK2 sphingosine kinase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:23043544 NCBI chr 1:107,681,425...107,689,790
Ensembl chr 1:107,680,599...107,689,707
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G TH tyrosine hydroxylase ISO protein:decreased expression:substantia nigra pars compacta, neuron (rat) RGD PMID:21366664 RGD:5128609 NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602
JBrowse link
G TNF tumor necrosis factor ameliorates
treatment
ISO RGD PMID:15647744 PMID:24916922 PMID:28630232 PMID:29498696 PMID:35322553 RGD:10450594 RGD:13792833 RGD:13825261 RGD:242905190 RGD:242905192 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TNFAIP6 TNF alpha induced protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr19:52,607,598...52,623,799
Ensembl chr19:52,607,713...52,623,811
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:15647744 RGD:13825261 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 ameliorates ISO RGD PMID:32736673 RGD:127284860 NCBI chr12:9,990,678...10,000,195
Ensembl chr12:9,990,679...10,000,236
JBrowse link
G UPP1 uridine phosphorylase 1 ISO mRNA, protein:increased expression:brain (rat) RGD PMID:18457515 RGD:2317094 NCBI chr18:108,215...120,213 JBrowse link
G VEGFA vascular endothelial growth factor A treatment ISO mRNA,protein:increased expression:cerebral cortex (rat) RGD PMID:27035554 PMID:29497380 PMID:30531687 RGD:329337377 RGD:329849008 RGD:40925919 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G XDH xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935
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 ISO ClinVar Annotator: match by term: Moyamoya disease | ClinVar Annotator: match by term: Moyamoya syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753
JBrowse link
G FAS Fas cell surface death receptor ISO ClinVar Annotator: match by term: Moyamoya disease ClinVar NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G PHACTR1 phosphatase and actin regulator 1 disease_progression ISO DNA:missense mutation:CDS:c.13185159G>T (p.V265L) (human) RGD PMID:32411507 RGD:401900691 NCBI chr35:12,233,152...12,745,031
Ensembl chr35:12,491,067...12,741,754
JBrowse link
G RNF213 ring finger protein 213 ISO ClinVar Annotator: match by term: Moyamoya disease ClinVar PMID:25741868 PMID:33568546 NCBI chr 9:1,439,061...1,506,658
Ensembl chr 9:1,440,364...1,506,951
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:16723886 RGD:1580650 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989
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 ISO ClinVar Annotator: match by term: MYMY1 ClinVar PMID:26777256 NCBI chr15:53,172,914...53,236,200
Ensembl chr15:53,174,157...53,234,533
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 ISO ClinVar Annotator: match by term: Moyamoya disease 2 ClinVar NCBI chr 9:1,418,666...1,436,726
Ensembl chr 9:1,407,398...1,437,177
JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: Moyamoya disease 2 ClinVar PMID:25741868 NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064
JBrowse link
G RNF213 ring finger protein 213 susceptibility ISO ClinVar Annotator: match by term: Moyamoya disease 2 | ClinVar Annotator: match by term: RNF213-related condition OMIM
ClinVar
PMID:21048783 PMID:21799892 PMID:22377813 PMID:22931863 PMID:23110205 More... NCBI chr 9:1,439,061...1,506,658
Ensembl chr 9:1,440,364...1,506,951
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 ISO ClinVar Annotator: match by term: Moyamoya disease 5 OMIM
ClinVar
PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 More... NCBI chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753
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 ISO ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia OMIM
ClinVar
PMID:24581742 PMID:25741868 PMID:26777256 PMID:28492532 NCBI chr15:53,172,914...53,236,200
Ensembl chr15:53,174,157...53,234,533
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 ISO ClinVar Annotator: match by term: Moyamoya disease 7 OMIM
ClinVar
PMID:37253099 NCBI chr18:48,108,310...48,249,021
Ensembl chr18:48,108,806...48,189,471
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 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:1677459 RGD:10054257 NCBI chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:18938189 RGD:10054050 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:18938189 RGD:10054050 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:21279683 RGD:10449132 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
JBrowse link
G IL2 interleukin 2 severity ISO protein:increased secretion:mononuclear cell: RGD PMID:8586980 RGD:10047081 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
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 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:22312439 PMID:25104557 PMID:25174650 PMID:25604855 PMID:25741868 More... NCBI chr31:21,351,207...21,614,466
Ensembl chr31:21,351,207...21,614,337
JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha ISO RGD PMID:24448401 RGD:14696801 NCBI chr 7:45,118,188...45,127,048
Ensembl chr 7:45,117,657...45,127,048
JBrowse link
G ATRIP ATR interacting protein ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 More... NCBI chr20:40,626,828...40,642,689
Ensembl chr20:40,626,831...40,642,594
JBrowse link
G AVP arginine vasopressin ISO protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr24:18,183,057...18,184,827
Ensembl chr24:18,183,057...18,184,883
JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO RGD PMID:24622829 RGD:10059369 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 PMID:33268848 PMID:35307828 NCBI chr27:37,951,137...37,960,687
Ensembl chr27:37,950,246...37,960,557
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 PMID:33268848 NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032
JBrowse link
G CCM2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:28492532 PMID:33268848 PMID:35307828 NCBI chr16:10,347,801...10,392,560
Ensembl chr16:10,347,145...10,394,594
JBrowse link
G CDK5 cyclin dependent kinase 5 treatment ISO RGD PMID:27118553 RGD:13792766 NCBI chr16:15,105,177...15,113,085
Ensembl chr16:15,101,230...15,109,269
JBrowse link
G CHMP2B charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr31:789,586...817,925
Ensembl chr31:791,139...817,895
JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 PMID:28492532 PMID:33268848 PMID:35307828 NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666
JBrowse link
G COL4A2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:33268848 NCBI chr22:58,656,579...58,820,560
Ensembl chr22:58,697,175...58,773,297
JBrowse link
G COLGALT1 collagen beta(1-O)galactosyltransferase 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr20:45,250,948...45,272,887
Ensembl chr20:45,251,842...45,272,875
JBrowse link
G CREB1 cAMP responsive element binding protein 1 treatment ISO RGD PMID:27923588 RGD:401960869 NCBI chr37:15,921,214...15,978,492
Ensembl chr37:15,939,138...15,977,556
JBrowse link
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:28492532 PMID:35307828 NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320
JBrowse link
G DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr23:29,389,120...29,506,339
Ensembl chr23:29,389,979...29,506,343
JBrowse link
G EIF4E eukaryotic translation initiation factor 4E ISO protein:decreased expression:hippocampus RGD PMID:23053837 RGD:10401142 NCBI chr32:21,064,202...21,108,998
Ensembl chr32:21,065,270...21,124,483
JBrowse link
G EPO erythropoietin ISO RGD PMID:17037738 RGD:10400891 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 treatment ISO RGD PMID:22500404 RGD:10402076 NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 treatment ISO RGD PMID:22500404 RGD:10402076 NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit susceptibility ISO associated with stroke;DNA:polymorphism:promoter:-588C>T(human) RGD PMID:17548779 RGD:10402374 NCBI chr 6:55,204,602...55,244,217 JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:24968700 RGD:11352822 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO associated with Alzheimer's disease RGD PMID:25261450 RGD:13792687 NCBI chr 9:48,492,967...48,513,981
Ensembl chr 9:48,493,287...48,509,050
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B severity ISO RGD PMID:25261450 RGD:13792687 NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680
JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO RGD PMID:27118553 RGD:13792766 NCBI chr33:23,458,369...23,659,878
Ensembl chr33:23,463,767...23,659,666
JBrowse link
G HTRA1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:24500651 PMID:25741868 PMID:33268848 PMID:35307828 NCBI chr28:32,133,779...32,157,835
Ensembl chr28:32,132,547...32,157,409
JBrowse link
G IGF1 insulin like growth factor 1 severity ISO mRNA,protein:decreased expression:hippocampus: RGD PMID:16181175 PMID:22342912 RGD:10045864 RGD:1598446 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:16983186 RGD:10045873 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:plasma RGD PMID:16600299 RGD:1626633 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:33268848 NCBI chr22:3,255,139...3,261,440
Ensembl chr22:3,255,631...3,261,433
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:33268848 NCBI chr14:17,836,513...17,872,514
Ensembl chr14:17,832,625...17,872,190
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:24070657 RGD:405096669 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998
JBrowse link
G MAPT microtubule associated protein tau treatment ISO RGD PMID:27118553 RGD:13792766 NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349
JBrowse link
G MIR143 microRNA mir-143 treatment
exacerbates
ISO RGD PMID:36459592 RGD:155882588 NCBI chr 4:59,534,535...59,534,589
Ensembl chr 4:59,534,535...59,534,594
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:16385583 RGD:1582624 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO protein:decreased expression:hippocampus RGD PMID:23053837 RGD:10401142 NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29391125 RGD:127285384 NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
JBrowse link
G NMNAT2 nicotinamide nucleotide adenylyltransferase 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 7:16,626,213...16,819,681
Ensembl chr 7:16,631,116...16,805,457
JBrowse link
G NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:14714274 PMID:15364702 PMID:16009764 PMID:24840674 PMID:25033846 More... NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219
JBrowse link
G NOX1 NADPH oxidase 1 treatment ISO RGD PMID:24294978 RGD:329955573 NCBI chr  X:74,784,627...74,811,796
Ensembl chr  X:74,785,168...74,811,698
JBrowse link
G NPPA natriuretic peptide A ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:28492532 PMID:33268848 NCBI chr 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385
JBrowse link
G PCNT pericentrin ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr31:39,576,344...39,677,118
Ensembl chr31:39,578,039...39,676,820
JBrowse link
G PDE9A phosphodiesterase 9A treatment ISO RGD PMID:30916555 RGD:242905183 NCBI chr31:36,949,777...37,036,237
Ensembl chr31:36,949,723...37,035,809
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 PMID:25850945 PMID:26467025 PMID:28492532 PMID:35307828 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
G PON2 paraoxonase 2 ISO DNA:missense mutation:cds:p.C311S (human) RGD PMID:11803456 RGD:1580219 NCBI chr14:20,652,905...20,680,945
Ensembl chr14:20,652,905...20,680,980
JBrowse link
G PRNP prion protein ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr24:16,845,224...16,862,319
Ensembl chr24:16,846,207...16,859,815
JBrowse link
G PSEN2 presenilin 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:26522186 PMID:33268848 NCBI chr 7:38,147,157...38,163,023
Ensembl chr 7:38,147,173...38,166,722
JBrowse link
G RPGRIP1L RPGRIP1 like susceptibility ISO DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human) RGD PMID:22425971 RGD:13204815 NCBI chr 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284
JBrowse link
G RPS6 ribosomal protein S6 treatment ISO RGD PMID:25767501 RGD:11041644 NCBI chr11:39,161,422...39,165,148
Ensembl chr11:39,161,422...39,165,148
JBrowse link
G SDHAF1 succinate dehydrogenase complex assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19465911 NCBI chr 1:116,688,153...116,689,278
Ensembl chr 1:116,688,808...116,689,164
JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr16:23,165,347...23,268,115
Ensembl chr16:23,200,798...23,267,775
JBrowse link
G SMAD4 SMAD family member 4 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:28492532 PMID:35307828 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
JBrowse link
G SNCA synuclein alpha ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383
JBrowse link
G SNCG synuclein gamma ISO protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 NCBI chr 4:34,604,867...34,608,851
Ensembl chr 4:34,605,091...34,608,842
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO DNA:SNPs, haplotype: :24489C>T, 34995G>T, 68891C>T (human) RGD PMID:16082694 RGD:1581412 NCBI chr10:23,451,923...23,532,765
Ensembl chr10:23,452,561...23,518,689
Ensembl chr10:23,452,561...23,518,689
JBrowse link
G SST somatostatin ISO protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr34:20,063,091...20,064,520
Ensembl chr34:20,063,090...20,064,557
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr25:197,294...223,804
Ensembl chr25:201,301...223,560
JBrowse link
G TMEM106B transmembrane protein 106B ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:33268848 NCBI chr14:27,140,692...27,166,652
Ensembl chr14:27,140,687...27,161,333
JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-850C>T(human) RGD PMID:11273064 RGD:13825254 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TP53 tumor protein p53 ISO protein:increased expression:brain RGD PMID:18083315 RGD:2290557 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TREX1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 More... NCBI chr20:40,624,845...40,626,840
Ensembl chr20:40,624,891...40,626,906
JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:28492532 PMID:35307828 NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960
JBrowse link
G TUBB2A tubulin beta 2A class IIa ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr35:3,448,402...3,450,783
Ensembl chr35:3,448,435...3,452,091
JBrowse link
G UBQLN2 ubiquilin 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr  X:47,860,923...47,864,282 JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 1:81,191,125...81,426,337
Ensembl chr 1:81,192,349...81,426,322
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 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106 NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446
JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 6:8,925,303...8,943,284
Ensembl chr 6:8,924,686...8,942,324
JBrowse link
G KAT6A lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr16:23,604,629...23,717,047
Ensembl chr16:23,604,200...23,724,252
JBrowse link
G KEL Kell metallo-endopeptidase ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr16:6,396,724...6,645,221
Ensembl chr16:6,623,824...6,645,094
JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:28492532 PMID:30578106 NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 1:90,709,221...90,884,295
Ensembl chr 1:90,712,520...90,883,622
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      cardiovascular system disease 4407
        vascular disease 3103
          cerebrovascular disease 951
            intracranial arterial disease 311
              arteriovenous malformations of the brain + 33
              cerebral arterial disease + 237
              intracranial aneurysm + 40
              intracranial arteriosclerosis + 72
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      nervous system disease 13207
        central nervous system disease 11844
          brain disease 11124
            cerebrovascular disease 951
              intracranial arterial disease 311
                arteriovenous malformations of the brain + 33
                cerebral arterial disease + 237
                intracranial aneurysm + 40
                intracranial arteriosclerosis + 72
paths to the root