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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 chr21:12,324,455...12,608,594
Ensembl chr21:25,684,355...25,995,072
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 chr21:12,324,455...12,608,594
Ensembl chr21:25,684,355...25,995,072
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 chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691
JBrowse link
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:24,208,844...24,811,284
Ensembl chr 5:24,341,808...24,945,477
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 chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
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 Ensembl chr16:1,195,364...1,222,917 JBrowse link
G CDH2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:21,210,001...21,435,919
Ensembl chr18:24,812,019...25,008,325
JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
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 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr13:9,584,850...9,779,542 JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442
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 chr 3:57,023,622...57,098,869
Ensembl chr 3:58,240,835...58,309,409
JBrowse link
G IL6 interleukin 6 ISO OMIM NCBI chr 7:23,415,922...23,420,767 JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
JBrowse link
G LEMD3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr12:23,668,368...23,747,369
Ensembl chr12:24,172,749...24,252,314
JBrowse link
G MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 Ensembl chr2A:102,750,221...102,945,263 JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216
JBrowse link
G NOTCH4 notch receptor 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:27231971 NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978
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 chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430
JBrowse link
G PITPNM3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr17:6,492,567...6,595,645
Ensembl chr17:6,481,590...6,584,379
JBrowse link
G PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138
JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 1:111,590,850...111,615,068
Ensembl chr 1:110,755,054...110,779,704
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 chr11:9,146,533...9,219,816
Ensembl chr11:8,888,668...8,959,677
JBrowse link
G SYN3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr22:13,517,932...14,069,661
Ensembl chr22:31,373,604...31,866,798
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
G ZFYVE16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:34,837,410...34,910,416
Ensembl chr 5:35,111,723...35,183,028
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:23979357 PMID:25741868 More... NCBI chr 3:48,368,775...48,387,698
Ensembl chr 3:49,450,991...49,469,351
JBrowse link
G HTRA1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
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:3435268 PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 More... NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
JBrowse link
G TREX1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: CASIL ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:23979357 PMID:25741868 More... NCBI chr 3:48,387,762...48,389,693
Ensembl chr 3:49,470,222...49,471,331
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:3435268 PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 More... NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
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 ISO ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ClinVar PMID:25741868 NCBI chr10:119,022,726...119,026,201
Ensembl chr10:122,434,856...122,437,551
JBrowse link
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 chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
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 chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
JBrowse link
cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA1 apolipoprotein A1 ISO RGD PMID:20739292 RGD:5508213 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:11061249 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G APP amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21520056 NCBI chr21:12,324,455...12,608,594
Ensembl chr21:25,684,355...25,995,072
JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:21107133 RGD:5148012 NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:14595653 RGD:5688166 NCBI chr 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755
JBrowse link
G ITM2B integral membrane protein 2B ISO MouseDO NCBI chr13:29,383,318...29,412,018 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 chr 3:152,085,694...152,240,148
Ensembl chr 3:160,197,566...160,292,119
JBrowse link
G OLR1 oxidized low density lipoprotein receptor 1 ISO RGD PMID:16328515 RGD:1580993 NCBI chr12:10,196,712...10,210,432
Ensembl chr12:10,445,202...10,461,071
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 1:21,895,961...22,107,649
Ensembl chr 1:22,912,570...23,047,118
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 ISO ClinVar Annotator: match by term: CARASIL syndrome ClinVar PMID:18316707 PMID:20437615 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:119,022,726...119,026,201
Ensembl chr10:122,434,856...122,437,551
JBrowse link
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 chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
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:27148565 NCBI chr 5:135,541,865...135,610,526
Ensembl chr 5:141,659,224...141,727,870
Ensembl chr 5:141,659,224...141,727,870
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 9:47,196,338...47,423,388 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 PMID:30279455 NCBI chr21:12,324,455...12,608,594
Ensembl chr21:25,684,355...25,995,072
JBrowse link
G CST3 cystatin C 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 chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425
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 chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:25316629 RGD:11522723 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G CCDC180 coiled-coil domain containing 180 ISO ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 NCBI chr 9:68,380,995...68,467,787
Ensembl chr 9:96,503,785...96,589,386
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 chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO RGD PMID:14739420 RGD:1581199 NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
JBrowse link
G COL22A1 collagen type XXII alpha 1 chain susceptibility ISO DNA:SNPs:cds:multiple(human) RGD PMID:30541770 RGD:13831344 NCBI chr 8:135,241,159...135,567,550
Ensembl chr 8:138,347,432...138,633,084
JBrowse link
G CST3 cystatin C ISO protein:decreased expression:brain, artery
mRNA:decreased expression:brain, artery
RGD PMID:18635848 RGD:2306495 NCBI chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425
JBrowse link
G CTSB cathepsin B ISO protein:increased expression:cerebral aneurysm (human)
mRNA, protein:increased expression, increased activity:Circle of Willis (rat)
RGD PMID:18635848 RGD:2306495 NCBI chr 8:7,333,498...7,359,264 JBrowse link
G CTSK cathepsin K ISO protein:increased expression:brain, artery
mRNA:increased expression:brain, artery
RGD PMID:18635848 RGD:2306495 NCBI chr 1:126,146,555...126,158,662
Ensembl chr 1:129,795,966...129,808,316
JBrowse link
G CTSS cathepsin S ISO mRNA:increased expression:brain, artery
protein:increased expression:brain, artery
RGD PMID:18635848 RGD:2306495 NCBI chr 1:126,084,249...126,118,221
Ensembl chr 1:129,733,996...129,768,318
JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:serum RGD PMID:32602008 RGD:155882593 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
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 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
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 chr 5:123,673,209...123,953,741
Ensembl chr 5:129,435,248...129,715,711
JBrowse link
G IL6 interleukin 6 ISO RGD PMID:16648144 RGD:1580488 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G KLF5 KLF transcription factor 5 ISO protein:increased expression:artery RGD PMID:30201338 RGD:155883158
G KMT2D lysine methyltransferase 2D susceptibility ISO DNA:SNP: :rs3782356(human) RGD PMID:30121816 RGD:155582216 NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
JBrowse link
G MMP12 matrix metallopeptidase 12 no_association ISO RGD PMID:11546917 RGD:1582365 NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO RGD PMID:9724118 RGD:1582590 NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058
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 chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MMP9 matrix metallopeptidase 9 susceptibility
treatment
ISO mRNA:increased expression:blood vessel
protein:increased expression:artery
mRNA, protein:increased expression:artery
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 chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MYOCD myocardin ameliorates ISO RGD PMID:25868147 RGD:401793751 NCBI chr17:38,880,120...38,983,246
Ensembl chr17:43,584,259...43,681,659
JBrowse link
G NCBP1 nuclear cap binding protein subunit 1 ISO ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 NCBI chr 9:68,724,176...68,764,423
Ensembl chr 9:96,845,422...96,885,624
JBrowse link
G NCF1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19381132 Ensembl chr 7:81,917,167...81,932,589 JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:21321533 RGD:5131897 NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005
JBrowse link
G NOS3 nitric oxide synthase 3 ISO RGD PMID:21321533 RGD:5131897 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr16:604,366...605,560 JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr 4:80,295,243...80,365,271
Ensembl chr 4:91,019,734...91,086,775
JBrowse link
G PLAU plasminogen activator, urokinase ISO RGD PMID:21786025 RGD:6483795 NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136
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 chr 8:50,883,088...50,885,542
Ensembl chr 8:48,257,287...48,259,808
JBrowse link
G SYCP1 synaptonemal complex protein 1 ISO ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:87,565,888...87,701,530
Ensembl chr 1:122,614,520...122,754,137
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:17569872 RGD:2290352 NCBI chr  X:40,018,190...40,022,636
Ensembl chr  X:47,914,906...47,919,419
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO mRNA:increased expression:blood vessel RGD PMID:17569872 RGD:2290352 NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:24628611 RGD:10450592 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G VCAN versican ISO DNA:SNP: :rs173686 (human) RGD PMID:16917090 RGD:1598495 NCBI chr 5:31,699,278...31,810,169
Ensembl chr 5:32,019,709...32,130,351
JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA,protein:increased expression:artery RGD PMID:32602008 RGD:155882593 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
G VWF von Willebrand factor ISO protein:increased expression:serum, artery RGD PMID:32602008 RGD:155882593 NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153
JBrowse link
G ZNF782 zinc finger protein 782 ISO ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 NCBI chr 9:67,848,283...67,870,501
Ensembl chr 9:96,030,591...96,068,074
Ensembl chr 9:96,030,591...96,068,074
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 chr13:33,442,480...33,472,259
Ensembl chr13:52,301,206...52,330,504
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 chr13:29,383,318...29,412,018 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 chr13:29,383,318...29,412,018 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 chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
JBrowse link
G ACE angiotensin I converting enzyme treatment ISO RGD PMID:24471927 RGD:11039026 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO mRNA, protein:increased expression:brain RGD PMID:24090950 RGD:9685436 NCBI chr  X:8,189,267...8,229,415
Ensembl chr  X:15,470,896...15,510,891
JBrowse link
G ACVR1 activin A receptor type 1 ISO RGD PMID:33345977 RGD:329845521 NCBI chr2B:44,994,175...45,133,490
Ensembl chr2B:162,234,823...162,297,805
JBrowse link
G ACVR2B activin A receptor type 2B ISO mRNA:increased expression:brain (mouse) RGD PMID:33763412 RGD:329849104 NCBI chr 3:38,350,838...38,389,839
Ensembl chr 3:38,633,093...38,662,063
JBrowse link
G ADORA1 adenosine A1 receptor ISO CTD Direct Evidence: therapeutic CTD PMID:23437309 NCBI chr 1:178,728,751...178,769,066
Ensembl chr 1:183,023,466...183,063,760
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 chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
JBrowse link
G AGT angiotensinogen ISO protein:increased expression:brain, serum RGD PMID:24090950 RGD:9685436 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO protein:altered localization: : RGD PMID:15181376 RGD:10047403 NCBI chr  X:119,256,425...119,292,612
Ensembl chr  X:129,550,287...129,586,271
JBrowse link
G AK1 adenylate kinase 1 ISO protein:decreased expression:cerebral cortex (rat) RGD PMID:16468349 RGD:5508760 NCBI chr 9:98,987,348...98,997,252
Ensembl chr 9:127,657,338...127,678,245
JBrowse link
G ALB albumin treatment ISO RGD PMID:22227456 RGD:11036100 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19309543 NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016
JBrowse link
G AP2B1 adaptor related protein complex 2 subunit beta 1 ISO protein:increased degradation:brain RGD PMID:19240038 RGD:13461853 NCBI chr17:21,070,132...21,208,610
Ensembl chr17:21,363,121...21,501,721
JBrowse link
G APAF1 apoptotic peptidase activating factor 1 treatment ISO RGD PMID:24012531 RGD:13703113 NCBI chr12:96,224,515...96,311,246
Ensembl chr12:99,637,622...99,726,939
JBrowse link
G APOE apolipoprotein E ISO RGD PMID:19623195 RGD:6903926 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G APP amyloid beta precursor protein treatment ISO RGD PMID:28963051 RGD:13782054 NCBI chr21:12,324,455...12,608,594
Ensembl chr21:25,684,355...25,995,072
JBrowse link
G AQP4 aquaporin 4 treatment ISO RGD PMID:20815926 PMID:33127515 RGD:155646130 RGD:8695955 NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
JBrowse link
G ARC activity regulated cytoskeleton associated protein ISO RGD PMID:22645329 RGD:10395314 NCBI chr 8:139,320,366...139,323,802
Ensembl chr 8:142,367,995...142,369,185
JBrowse link
G ATF3 activating transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 1:188,176,728...188,188,842
Ensembl chr 1:193,036,793...193,049,150
JBrowse link
G BAD BCL2 associated agonist of cell death treatment ISO RGD PMID:21891976 PMID:22200499 RGD:10053665 RGD:10053704 NCBI chr11:59,626,981...59,641,824
Ensembl chr11:62,971,808...62,986,257
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:23143152 RGD:10054501 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BCAN brevican ISO RGD PMID:15869933 RGD:9590118 NCBI chr 1:131,985,310...132,003,068
Ensembl chr 1:135,808,783...135,826,344
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:23143152 RGD:10054501 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO RGD PMID:20417695 PMID:28202057 PMID:35218623 RGD:401960864 RGD:405878057 RGD:4891138 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
JBrowse link
G BECN1 beclin 1 treatment ISO RGD PMID:22108007 RGD:11561900 NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286
JBrowse link
G BNIP3 BCL2 interacting protein 3 ISO protein:increased expression:brain RGD PMID:17379825 RGD:9685412 NCBI chr10:128,671,663...128,685,952
Ensembl chr10:132,858,211...132,871,634
JBrowse link
G BNIP3L BCL2 interacting protein 3 like ISO RGD PMID:15902200 PMID:21029239 RGD:2314138 RGD:9068917 NCBI chr 8:25,661,629...25,685,878
Ensembl chr 8:22,567,428...22,593,004
JBrowse link
G C1QTNF6 C1q and TNF related 6 ameliorates ISO RGD PMID:35322553 RGD:242905190 NCBI chr22:18,093,940...18,112,459
Ensembl chr22:35,928,835...35,937,021
JBrowse link
G C3 complement C3 ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:22103620 PMID:23199288 RGD:7175514 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G CALCA calcitonin related polypeptide alpha treatment ISO RGD PMID:30531687 RGD:329849008 NCBI chr11:15,055,897...15,061,539
Ensembl chr11:14,745,588...14,751,267
JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha ISO RGD PMID:14688616 RGD:1358416 NCBI chr 5:145,644,164...145,714,143
Ensembl chr 5:151,649,062...151,719,373
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:21891976 PMID:23143152 PMID:26868427 RGD:10053704 RGD:10054501 RGD:13782346 NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
JBrowse link
G CASP6 caspase 6 ISO RGD PMID:26868427 RGD:13782346 NCBI chr 4:102,186,215...102,201,992
Ensembl chr 4:112,753,988...112,768,836
JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:26868427 RGD:13782346 NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
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 chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CD36 CD36 molecule (CD36 blood group) treatment ISO RGD PMID:25216018 RGD:11041113 NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
JBrowse link
G CD86 CD86 molecule ISO protein:increased expression:brain subventricular zone, microglial cell (rat) RGD PMID:19053043 RGD:2313025 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
JBrowse link
G CDK5 cyclin dependent kinase 5 ISO RGD PMID:24920629 RGD:13782375 NCBI chr 7:142,640,630...142,644,785
Ensembl chr 7:154,793,344...154,797,499
JBrowse link
G CLDN5 claudin 5 treatment ISO RGD PMID:24842554 RGD:13204729 NCBI chr22:2,282,215...2,286,724
Ensembl chr22:17,958,182...17,959,093
JBrowse link
G CREB1 cAMP responsive element binding protein 1 treatment ISO RGD PMID:35218623 RGD:401960864 NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
JBrowse link
G CRH corticotropin releasing hormone ISO protein:decreased expression:median eminence of hypothalamus (rat) RGD PMID:21741032 RGD:5490538 NCBI chr 8:62,714,721...62,716,979
Ensembl chr 8:64,383,419...64,384,009
JBrowse link
G CRP C-reactive protein ISO RGD PMID:15545914 RGD:9585995 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G CRTC1 CREB regulated transcription coactivator 1 treatment ISO RGD PMID:20417695 RGD:4891138 NCBI chr19:18,123,375...18,221,832
Ensembl chr19:19,131,484...19,228,980
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 chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO RGD PMID:10825390 RGD:632989 NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148
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:60,880,759...60,883,355
Ensembl chr  X:70,933,160...70,935,756
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO RGD PMID:23002367 RGD:14700877 Ensembl chr10:134,839,025...134,852,719 JBrowse link
G DICER1 dicer 1, ribonuclease III ISO mRNA:decreased expression:brain: RGD PMID:26294080 RGD:11553310 NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO RGD PMID:11726790 RGD:9588643 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO RGD PMID:23516428 RGD:9589049 NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605
JBrowse link
G DYNLL1 dynein light chain LC8-type 1 ISO RGD PMID:9522364 RGD:13208524 NCBI chr12:118,078,401...118,080,822
Ensembl chr12:121,452,118...121,454,550
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17197033 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
JBrowse link
G EGR1 early growth response 1 ISO RGD PMID:22645329 RGD:10395314 NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260
JBrowse link
G EGR2 early growth response 2 ISO RGD PMID:22645329 RGD:10395314 NCBI chr10:59,320,073...59,326,869
Ensembl chr10:61,648,364...61,652,846
JBrowse link
G EGR4 early growth response 4 ISO RGD PMID:22645329 RGD:10395314 NCBI chr2A:73,343,705...73,346,476
Ensembl chr2A:74,831,326...74,834,246
JBrowse link
G EIF2S1 eukaryotic translation initiation factor 2 subunit alpha treatment ISO RGD PMID:19763736 PMID:23669639 RGD:10395346 RGD:10755569 NCBI chr14:47,935,691...47,960,055
Ensembl chr14:66,813,953...66,839,866
JBrowse link
G ELANE elastase, neutrophil expressed treatment ISO RGD PMID:10700596 RGD:10450546 NCBI chr19:276,499...280,598 JBrowse link
G ENG endoglin ISO RGD PMID:24876084 RGD:11041171 NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
JBrowse link
G EPCAM epithelial cell adhesion molecule ISO RGD PMID:15950761 RGD:11038820 NCBI chr2A:47,490,748...47,508,418
Ensembl chr2A:48,413,520...48,432,038
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 1:21,895,961...22,107,649
Ensembl chr 1:22,912,570...23,047,118
JBrowse link
G EPN1 epsin 1 ISO protein:increased degradation:brain RGD PMID:19240038 RGD:13461853 NCBI chr19:52,722,107...52,743,321
Ensembl chr19:61,408,695...61,427,647
JBrowse link
G EPO erythropoietin treatment ISO RGD PMID:20547143 PMID:20833153 RGD:10400898 RGD:10401066 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:9974119 RGD:10401103 NCBI chr10:44,703,720...44,784,948 JBrowse link
G F11 coagulation factor XI ISO RGD PMID:16533887 RGD:11041786 NCBI chr 4:178,436,865...178,459,568
Ensembl chr 4:190,643,733...190,666,512
JBrowse link
G F12 coagulation factor XII treatment ISO RGD PMID:16533887 RGD:11041786 NCBI chr 5:172,703,724...172,711,618
Ensembl chr 5:179,766,243...179,773,485
JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29651748 NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
JBrowse link
G FADD Fas associated via death domain treatment ISO RGD PMID:18950622 PMID:23378241 RGD:11341807 RGD:11344885 NCBI chr11:65,300,889...65,305,020 JBrowse link
G FGF2 fibroblast growth factor 2 treatment ISO RGD PMID:30531687 RGD:329849008 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
JBrowse link
G FGF21 fibroblast growth factor 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr19:45,755,466...45,758,472 JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766
JBrowse link
G GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 5:157,072,915...157,089,994
Ensembl chr 5:163,767,304...163,784,331
JBrowse link
G GAP43 growth associated protein 43 treatment ISO RGD PMID:30531687 RGD:329849008 NCBI chr 3:112,765,576...112,863,118
Ensembl chr 3:119,734,942...119,780,290
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:25882840 RGD:13792686 NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729
JBrowse link
G GCH1 GTP cyclohydrolase 1 treatment ISO RGD PMID:24956890 RGD:401717568 NCBI chr14:35,428,676...35,489,359
Ensembl chr14:53,706,723...53,767,393
JBrowse link
G GDNF glial cell derived neurotrophic factor treatment ISO RGD PMID:20468049 PMID:21347705 PMID:28202057 PMID:29497380 RGD:405866359 RGD:405866363 RGD:405878057 RGD:40925919 NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362
JBrowse link
G GHRL ghrelin and obestatin prepropeptide treatment ISO RGD PMID:19352052 RGD:9850083 NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723
JBrowse link
G GHSR growth hormone secretagogue receptor ISO RGD PMID:19352052 RGD:9850083 NCBI chr 3:169,448,217...169,458,602
Ensembl chr 3:177,633,039...177,638,202
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 1:157,882,258...157,891,562
Ensembl chr 1:161,534,106...161,543,411
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 treatment ISO RGD PMID:26674869 RGD:11068571 NCBI chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382
JBrowse link
G GRN granulin precursor treatment ISO RGD PMID:23972823 RGD:10401661 NCBI chr17:13,046,329...13,054,236
Ensembl chr17:13,211,784...13,219,609
JBrowse link
G GRPEL1 GrpE like 1, mitochondrial ISO mRNA:increased expression:cerebral cortex RGD PMID:12505684 RGD:632868 Ensembl chr 4:7,126,043...7,135,388 JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO RGD PMID:28440874 RGD:13792734 NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771
JBrowse link
G GSN gelsolin ameliorates ISO RGD PMID:9927495 PMID:18234195 RGD:329333031 RGD:329333033 NCBI chr 9:92,413,819...92,460,483
Ensembl chr 9:120,741,148...120,805,831
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA, protein:increased expression:cerebral cortex, hippocampus, corpus striatum RGD PMID:21957487 RGD:11041635 NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861
JBrowse link
G HAS2 hyaluronan synthase 2 ISO mRNA:increased expression:brain RGD PMID:11283406 RGD:9588631 NCBI chr 8:118,313,186...118,342,160
Ensembl chr 8:121,072,154...121,089,365
JBrowse link
G HDAC2 histone deacetylase 2 exacerbates ISO RGD PMID:32239566 RGD:155883173 NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004
JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO mRNA,protein:decreased expression:brain: RGD PMID:23480850 RGD:9681449 NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
JBrowse link
G HDAC5 histone deacetylase 5 treatment ISO mRNA,protein:decreased expression:brain: RGD PMID:23480850 RGD:9681449 NCBI chr17:13,273,052...13,319,695
Ensembl chr17:13,446,836...13,479,140
JBrowse link
G HDAC9 histone deacetylase 9 ISO mRNA:increased expression:brain: RGD PMID:23480850 RGD:9681449 NCBI chr 7:18,740,580...19,653,615
Ensembl chr 7:18,138,761...18,970,717
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:21029239 RGD:9068917 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
JBrowse link
G HMGB1 high mobility group box 1 treatment ISO RGD PMID:23480850 RGD:9681449 NCBI chr13:11,737,942...11,894,923
Ensembl chr13:30,174,899...30,179,527
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:20888632 PMID:23870531 PMID:24252362 RGD:10755587 RGD:10755588 RGD:10755755 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
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 5:128,463,186...128,517,563
Ensembl chr 5:134,619,076...134,673,658
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959
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 chr2A:74,596,020...74,599,790
Ensembl chr2A:76,102,240...76,106,152
JBrowse link
G HVCN1 hydrogen voltage gated channel 1 ISO RGD PMID:31250553 RGD:14985213 NCBI chr12:108,217,516...108,258,210
Ensembl chr12:111,591,050...111,645,632
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO RGD PMID:16286924 RGD:10045955 NCBI chr 8:41,515,613...41,576,229
Ensembl chr 8:38,960,594...39,020,971
JBrowse link
G IL10 interleukin 10 ameliorates ISO RGD PMID:28630232 RGD:242905192 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL11 interleukin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr19:52,407,730...52,426,445
Ensembl chr19:61,096,275...61,101,837
JBrowse link
G IL13 interleukin 13 ISO protein:increased expression:cerebral cortex RGD PMID:23028794 RGD:7204480 NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
JBrowse link
G IL1B interleukin 1 beta ameliorates
treatment
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 chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL1RN interleukin 1 receptor antagonist treatment ISO human gene in a rat model RGD PMID:7790404 RGD:8551708 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
JBrowse link
G IL22 interleukin 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr12:65,757,069...65,762,418
Ensembl chr12:68,542,076...68,547,421
JBrowse link
G IL4 interleukin 4 ISO protein:increased expression:cerebral cortex RGD PMID:23028794 RGD:7204480 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G IL5 interleukin 5 ISO RGD PMID:23028794 RGD:7204480 NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
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 chr 7:23,415,922...23,420,767 JBrowse link
G IL6R interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089
JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer ISO CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr 5:58,023,704...58,081,895
Ensembl chr 5:59,669,606...59,708,817
JBrowse link
G IL7R interleukin 7 receptor ISO protein:increased expression:brain: RGD PMID:30676545 RGD:151347693 NCBI chr 5:74,489,188...74,516,330
Ensembl chr 5:79,769,859...79,792,612
JBrowse link
G INA internexin neuronal intermediate filament protein alpha ISO RGD PMID:29967576 RGD:27226878 NCBI chr10:99,877,665...99,890,947
Ensembl chr10:103,340,438...103,353,888
JBrowse link
G INHBA inhibin subunit beta A ISO RGD PMID:33345977 RGD:329845521 NCBI chr 7:42,538,591...42,556,578
Ensembl chr 7:42,580,730...42,595,097
JBrowse link
G IRF4 interferon regulatory factor 4 ISO RGD PMID:25652434 RGD:11530061 NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654
JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974
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 chr19:40,715,621...40,735,025
Ensembl chr19:49,321,403...49,335,900
JBrowse link
G LIG3 DNA ligase 3 ISO associated with transient cerebral ischemia;protein:increased expression:brain RGD PMID:17412650 RGD:2302580 NCBI chr17:21,776,483...21,805,706
Ensembl chr17:22,074,046...22,095,220
JBrowse link
G LOC100974886 uncharacterized LOC100974886 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 4:50,092,989...50,095,541
Ensembl chr 4:55,925,562...55,986,555
JBrowse link
G MAG myelin associated glycoprotein treatment ISO RGD PMID:15678116 RGD:9685232 NCBI chr19:32,238,457...32,260,497
Ensembl chr19:40,975,763...40,997,401
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:27152455 PMID:35218623 RGD:13800881 RGD:401960864 NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:27152455 PMID:35218623 RGD:13800881 RGD:401960864 Ensembl chr16:30,489,362...30,498,017 JBrowse link
G MAPT microtubule associated protein tau treatment ISO RGD PMID:25903928 PMID:28886009 RGD:13800886 RGD:13800913 NCBI chr17:11,373,220...11,506,669
Ensembl chr17:11,458,159...11,523,129
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:19309543 PMID:24842554 RGD:13204729 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MT3 metallothionein 3 ISO protein:decreased expression:brain RGD PMID:8869568 RGD:9685807 NCBI chr16:36,875,919...36,877,558
Ensembl chr16:56,007,922...56,028,093
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 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 ISO RGD PMID:21386696 RGD:13801046 NCBI chr16:47,119,548...47,147,679
Ensembl chr16:66,221,829...66,246,865
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase treatment ISO RGD PMID:28495827 RGD:13781880 NCBI chr 7:98,227,071...98,262,254
Ensembl chr 7:110,952,876...110,981,967
JBrowse link
G NCAM1 neural cell adhesion molecule 1 treatment ISO RGD PMID:29497380 PMID:32962079 RGD:40924633 RGD:40925919 NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401
JBrowse link
G NEFH neurofilament heavy chain ISO RGD PMID:29967576 RGD:27226878 NCBI chr22:10,525,738...10,536,788 JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:brain RGD PMID:29967576 RGD:27226878 NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
JBrowse link
G NEFM neurofilament medium chain ISO protein:altered expression:brain RGD PMID:29967576 RGD:27226878 NCBI chr 8:24,181,335...24,186,701
Ensembl chr 8:21,098,005...21,107,468
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO RGD PMID:23880501 PMID:24466583 RGD:10412696 RGD:10412714 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
JBrowse link
G NFKBIA NFKB inhibitor alpha treatment ISO RGD PMID:21122797 RGD:10413868 NCBI chr14:16,155,331...16,158,588 JBrowse link
G NGF nerve growth factor treatment ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:10408807 PMID:29409115 RGD:402463967 NCBI chr 1:87,223,597...87,276,759 JBrowse link
G NGFR nerve growth factor receptor treatment ISO RGD PMID:22678884 RGD:10413900 NCBI chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 treatment ISO RGD PMID:24842554 RGD:13204729 NCBI chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773
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 chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G NOX1 NADPH oxidase 1 treatment ISO RGD PMID:30816157 RGD:329955567 NCBI chr  X:90,046,023...90,076,968
Ensembl chr  X:100,182,398...100,215,192
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 chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731
JBrowse link
G NRG1 neuregulin 1 treatment
ameliorates
ISO RGD PMID:20691195 PMID:30206770 RGD:10449015 RGD:405650589 NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase treatment ISO associated with Hypertension RGD PMID:17920569 RGD:8657395 NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335
JBrowse link
G PARK7 Parkinsonism associated deglycase treatment ISO RGD PMID:17882163 RGD:13463450 NCBI chr 1:6,722,260...6,745,915
Ensembl chr 1:7,969,280...7,993,271
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 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356
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 chr12:77,114,282...77,224,116
Ensembl chr12:79,969,517...80,070,796
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha treatment ISO RGD PMID:16917016 RGD:11084934 NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097
JBrowse link
G PDGFRB platelet derived growth factor receptor beta treatment ISO RGD PMID:16917016 RGD:11084934 NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530
JBrowse link
G PLAT plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:12297567 PMID:14512838 PMID:17690543 PMID:18453163 PMID:20547619 More... RGD:1580876 NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779
JBrowse link
G PLAU plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:11677890 PMID:15181847 PMID:17702958 NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136
JBrowse link
G PLD1 phospholipase D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 3:168,606,342...168,816,383
Ensembl chr 3:176,790,753...176,961,033
JBrowse link
G POLB DNA polymerase beta ISO associated with transient cerebral ischemia;protein:increased expression:brain RGD PMID:17412650 RGD:2302580 NCBI chr 8:41,582,370...41,615,950
Ensembl chr 8:39,026,991...39,060,464
JBrowse link
G PRKCG protein kinase C gamma ISO RGD PMID:14688616 RGD:1358416 NCBI chr19:50,823,372...50,849,003
Ensembl chr19:59,672,097...59,695,977
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:24159062 RGD:11100027 NCBI chr2B:32,846,899...32,859,060
Ensembl chr2B:128,083,794...128,094,625
JBrowse link
G PTPRZ1 protein tyrosine phosphatase receptor type Z1 ISO mRNA:increased expression:cerebral cortex RGD PMID:15869933 RGD:9590118 NCBI chr 7:113,882,557...114,073,283
Ensembl chr 7:126,569,630...126,758,155
JBrowse link
G RBFOX3 RNA binding fox-1 homolog 3 treatment ISO RGD PMID:30531687 RGD:329849008 NCBI chr17:73,163,818...73,690,675
Ensembl chr17:78,711,056...78,732,131
JBrowse link
G RELN reelin severity ISO RGD PMID:16438965 RGD:13207538 NCBI chr 7:95,464,285...95,984,813
Ensembl chr 7:108,208,344...108,728,037
JBrowse link
G RGMA repulsive guidance molecule BMP co-receptor a treatment ISO RGD PMID:21840379 PMID:23275173 RGD:9850121 RGD:9850122 NCBI chr15:71,728,669...71,774,447
Ensembl chr15:90,922,199...90,956,179
JBrowse link
G RPL28 ribosomal protein L28 ISO RGD PMID:16805800 RGD:6480229 NCBI chr19:52,428,999...52,431,541
Ensembl chr19:61,116,514...61,135,785
JBrowse link
G S100A5 S100 calcium binding protein A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 1:128,892,317...128,896,879
Ensembl chr 1:132,521,394...132,525,991
JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:cerebrum, astrocyte RGD PMID:23595285 RGD:401794586 NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953
JBrowse link
G SERPINE1 serpin family E member 1 ISO RGD PMID:14512838 RGD:1580876 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G SERPINF1 serpin family F member 1 treatment ISO RGD PMID:22714093 RGD:8655545 NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
JBrowse link
G SERPINH1 serpin family H member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr11:70,621,893...70,632,570 JBrowse link
G SHH sonic hedgehog signaling molecule treatment ISO RGD PMID:22324418 RGD:12879461 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651
JBrowse link
G SIRT1 sirtuin 1 treatment ISO RGD PMID:23600725 RGD:9585664 NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
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 chr 5:123,499,267...123,603,777
Ensembl chr 5:129,262,134...129,364,563
JBrowse link
G SLC1A2 solute carrier family 1 member 2 treatment ISO RGD PMID:20423712 RGD:401794585 NCBI chr11:35,223,811...35,392,799
Ensembl chr11:35,107,920...35,265,878
JBrowse link
G SLC2A1 solute carrier family 2 member 1 treatment ISO RGD PMID:9419067 RGD:12879855 NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
JBrowse link
G SLC9A1 solute carrier family 9 member A1 treatment ISO RGD PMID:31250553 RGD:14985213 NCBI chr 1:26,359,818...26,418,910
Ensembl chr 1:27,414,937...27,475,089
JBrowse link
G SLPI secretory leukocyte peptidase inhibitor treatment ISO RGD PMID:14500739 RGD:9999390 NCBI chr20:41,583,429...41,585,773
Ensembl chr20:42,673,417...42,675,773
JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:23499832 PMID:23696546 RGD:12832759 RGD:12879404 NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048
JBrowse link
G SMOX spermine oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30576531 NCBI chr20:4,167,417...4,206,956
Ensembl chr20:3,965,616...4,004,468
JBrowse link
G SNAP91 synaptosome associated protein 91 ISO protein:increased degradation:brain RGD PMID:19240038 RGD:13461853 NCBI chr 6:81,441,792...81,600,505
Ensembl chr 6:84,720,850...84,874,407
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 chr21:18,029,831...18,037,526 JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G SPHK2 sphingosine kinase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:23043544 NCBI chr19:45,620,980...45,631,786
Ensembl chr19:54,213,166...54,224,767
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
JBrowse link
G TGFB1 transforming growth factor beta 1 ameliorates ISO RGD PMID:28630232 PMID:31409163 RGD:14995477 RGD:242905192 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G TH tyrosine hydroxylase ISO protein:decreased expression:substantia nigra pars compacta, neuron (rat) RGD PMID:21366664 RGD:5128609 NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433
JBrowse link
G TNF tumor necrosis factor treatment
ameliorates
ISO RGD PMID:15647744 PMID:24916922 PMID:28630232 PMID:29498696 PMID:35322553 RGD:10450594 RGD:13792833 RGD:13825261 RGD:242905190 RGD:242905192 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFAIP6 TNF alpha induced protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr2B:38,669,652...38,692,037
Ensembl chr2B:155,933,842...155,956,382
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:15647744 RGD:13825261 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 ameliorates ISO RGD PMID:32736673 RGD:127284860 NCBI chr 6:40,861,283...40,874,446
Ensembl chr 6:42,163,337...42,183,091
JBrowse link
G UPP1 uridine phosphorylase 1 ISO mRNA, protein:increased expression:brain (rat) RGD PMID:18457515 RGD:2317094 NCBI chr 7:48,729,975...48,749,598
Ensembl chr 7:48,838,893...48,858,185
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 chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
G XDH xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455
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 chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
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 chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080
JBrowse link
G FAS Fas cell surface death receptor ISO ClinVar Annotator: match by term: Moyamoya disease ClinVar PMID:25741868 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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 chr 6:12,560,862...13,136,126
Ensembl chr 6:12,922,871...13,505,609
JBrowse link
G RNF213 ring finger protein 213 ISO ClinVar Annotator: match by term: Moyamoya disease ClinVar PMID:25741868 PMID:33568546 NCBI chr17:74,688,130...74,823,973
Ensembl chr17:80,421,373...80,556,570
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:16723886 RGD:1580650 NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649
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 chr 4:148,032,167...148,102,757
Ensembl chr 4:159,850,107...159,913,338
JBrowse link
G RNF213 ring finger protein 213 ISO ClinVar Annotator: match by term: Moyamoya disease 1 ClinVar PMID:25741868 NCBI chr17:74,688,130...74,823,973
Ensembl chr17:80,421,373...80,556,570
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 chr17:74,843,661...74,865,960
Ensembl chr17:80,576,450...80,591,856
JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: Moyamoya disease 2 ClinVar PMID:25741868 NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
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 chr17:74,688,130...74,823,973
Ensembl chr17:80,421,373...80,556,570
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 chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080
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 chr 4:148,032,167...148,102,757
Ensembl chr 4:159,850,107...159,913,338
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 chr11:65,064,415...65,287,160
Ensembl chr11:68,473,555...68,576,451
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 chr21:12,324,455...12,608,594
Ensembl chr21:25,684,355...25,995,072
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:18938189 RGD:10054050 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:18938189 RGD:10054050 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:21279683 RGD:10449132 NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674
JBrowse link
G IL2 interleukin 2 severity ISO protein:increased secretion:mononuclear cell: RGD PMID:8586980 RGD:10047081 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
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:26242991 More... NCBI chr21:12,324,455...12,608,594
Ensembl chr21:25,684,355...25,995,072
JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha ISO RGD PMID:24448401 RGD:14696801 NCBI chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326
JBrowse link
G ATRIP ATR interacting protein ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:23979357 PMID:25741868 More... NCBI chr 3:48,368,775...48,387,698
Ensembl chr 3:49,450,991...49,469,351
JBrowse link
G AVP arginine vasopressin ISO protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr20:3,169,094...3,172,900 JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO RGD PMID:24622829 RGD:10059369 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 PMID:33268848 PMID:35307828 NCBI chr12:7,211,162...7,222,673
Ensembl chr12:7,126,723...7,137,895
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 chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
JBrowse link
G CCM2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:28492532 PMID:33268848 PMID:35307828 NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828
JBrowse link
G CDK5 cyclin dependent kinase 5 treatment ISO RGD PMID:27118553 RGD:13792766 NCBI chr 7:142,640,630...142,644,785
Ensembl chr 7:154,793,344...154,797,499
JBrowse link
G CHMP2B charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 3:87,358,297...87,386,556
Ensembl chr 3:89,471,993...89,501,241
JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:28492532 PMID:33268848 PMID:35307828 NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
JBrowse link
G COL4A2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:33268848 NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530
JBrowse link
G COLGALT1 collagen beta(1-O)galactosyltransferase 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr19:17,042,743...17,070,333
Ensembl chr19:18,013,831...18,043,364
JBrowse link
G CREB1 cAMP responsive element binding protein 1 treatment ISO RGD PMID:27923588 RGD:401960869 NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
JBrowse link
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:28492532 PMID:35307828 NCBI chr 5:136,876,396...136,980,097 JBrowse link
G DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 3:129,492,658...129,612,040
Ensembl chr 3:136,970,007...137,088,775
JBrowse link
G EIF4E eukaryotic translation initiation factor 4E ISO protein:decreased expression:hippocampus RGD PMID:23053837 RGD:10401142 NCBI chr 4:91,268,463...91,329,800
Ensembl chr 4:101,941,142...101,994,809
JBrowse link
G EPO erythropoietin ISO RGD PMID:17037738 RGD:10400891 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 treatment ISO RGD PMID:22500404 RGD:10402076 NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 treatment ISO RGD PMID:22500404 RGD:10402076 NCBI chr13:9,584,850...9,779,542 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 1:96,548,850...96,573,273
Ensembl chr 1:95,278,665...95,297,893
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:24968700 RGD:11352822 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO associated with Alzheimer's disease RGD PMID:25261450 RGD:13792687 NCBI chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B severity ISO RGD PMID:25261450 RGD:13792687 NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799
JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO RGD PMID:27118553 RGD:13792766 NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771
JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A ISO DNA:polymorphism: :-110A>C(human) RGD PMID:15832029 RGD:10402403 NCBI chr 6:31,476,710...31,491,411 JBrowse link
G HTRA1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:24500651 PMID:25741868 PMID:32042911 PMID:33268848 PMID:35307828 More... NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
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 chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:16983186 RGD:10045873 NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:plasma RGD PMID:16600299 RGD:1626633 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:33268848 NCBI chr13:29,383,318...29,412,018 JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:33268848 NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895
JBrowse link
G LPA lipoprotein(a) ISO protein:alternative form:plasma:presence of low molecular weight isoform(s) increased risk RGD PMID:15211075 RGD:5509891 NCBI chr 6:158,434,394...158,628,028 JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:24070657 RGD:405096669 NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
JBrowse link
G MAPT microtubule associated protein tau treatment ISO RGD PMID:27118553 RGD:13792766 NCBI chr17:11,373,220...11,506,669
Ensembl chr17:11,458,159...11,523,129
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:16385583 RGD:1582624 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO protein:decreased expression:hippocampus RGD PMID:23053837 RGD:10401142 NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29391125 RGD:127285384 NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
JBrowse link
G NMNAT2 nicotinamide nucleotide adenylyltransferase 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 1:158,768,949...158,948,711
Ensembl chr 1:162,929,609...163,105,524
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 chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
JBrowse link
G NOX1 NADPH oxidase 1 treatment ISO RGD PMID:24294978 RGD:329955573 NCBI chr  X:90,046,023...90,076,968
Ensembl chr  X:100,182,398...100,215,192
JBrowse link
G NPPA natriuretic peptide A ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 PMID:28492532 PMID:33268848 NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
JBrowse link
G PCNT pericentrin ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990
JBrowse link
G PDE9A phosphodiesterase 9A treatment ISO RGD PMID:30916555 RGD:242905183 NCBI chr21:28,963,181...29,088,395
Ensembl chr21:42,275,697...42,398,681
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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G PON2 paraoxonase 2 ISO DNA:missense mutation:cds:p.C311S (human) RGD PMID:11803456 RGD:1580219 NCBI chr 7:87,362,447...87,392,795
Ensembl chr 7:100,950,074...100,980,433
JBrowse link
G PRNP prion protein (Kanno blood group) ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr20:4,713,616...4,728,847
Ensembl chr20:4,523,155...4,523,916
JBrowse link
G PSEN2 presenilin 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:26522186 PMID:33268848 NCBI chr 1:202,328,987...202,354,440
Ensembl chr 1:207,320,937...207,346,295
JBrowse link
G RPGRIP1L RPGRIP1 like susceptibility ISO DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human) RGD PMID:22425971 RGD:13204815 NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174
JBrowse link
G RPS6 ribosomal protein S6 treatment ISO RGD PMID:25767501 RGD:11041644 NCBI chr 9:19,185,455...19,189,504
Ensembl chr 9:19,674,380...19,677,722
JBrowse link
G SDHAF1 succinate dehydrogenase complex assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19465911 NCBI chr19:32,911,720...32,912,893
Ensembl chr19:41,660,221...41,660,568
JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 8:41,663,200...41,786,314
Ensembl chr 8:39,109,265...39,162,456
JBrowse link
G SMAD4 SMAD family member 4 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:28492532 PMID:35307828 NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
JBrowse link
G SNCA synuclein alpha ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 4:82,018,585...82,132,938
Ensembl chr 4:92,737,608...92,850,600
JBrowse link
G SNCG synuclein gamma ISO protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 NCBI chr10:83,383,566...83,391,064 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 chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947
JBrowse link
G SST somatostatin ISO protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr 3:184,695,561...184,697,091
Ensembl chr 3:193,155,363...193,158,337
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr13:33,442,480...33,472,259
Ensembl chr13:52,301,206...52,330,504
JBrowse link
G TMEM106B transmembrane protein 106B ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:33268848 NCBI chr 7:12,905,192...12,931,170
Ensembl chr 7:12,250,010...12,270,693
JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-850C>T(human) RGD PMID:11273064 RGD:13825254 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TP53 tumor protein p53 ISO protein:increased expression:brain RGD PMID:18083315 RGD:2290557 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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:23979357 PMID:25741868 More... NCBI chr 3:48,387,762...48,389,693
Ensembl chr 3:49,470,222...49,471,331
JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 PMID:28492532 PMID:35307828 NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
JBrowse link
G TUBB2A tubulin beta 2A class IIa ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 6:2,993,653...2,997,570
Ensembl chr 6:3,080,751...3,255,882
JBrowse link
G UBQLN2 ubiquilin 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr  X:48,829,844...48,835,040
Ensembl chr  X:56,981,985...56,983,859
JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 9:47,424,921...47,668,150
Ensembl chr 9:76,032,286...76,269,636
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 chr21:22,830,770...22,946,594
Ensembl chr21:36,187,306...36,188,025
JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022
JBrowse link
G KAT6A lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538
JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:28492532 PMID:30578106 NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
JBrowse link
G LOC100989368 Kell metallo-endopeptidase (Kell blood group) ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 7:134,897,567...135,237,214
Ensembl chr 7:147,423,103...147,443,895
Ensembl chr 7:147,423,103...147,443,895
JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15805
    disease of anatomical entity 15483
      cardiovascular system disease 4468
        vascular disease 3056
          cerebrovascular disease 927
            intracranial arterial disease 310
              arteriovenous malformations of the brain + 33
              cerebral arterial disease + 234
              intracranial aneurysm + 39
              intracranial arteriosclerosis + 74
Path 2
Term Annotations click to browse term
  disease 15805
    disease of anatomical entity 15483
      nervous system disease 13566
        central nervous system disease 12125
          brain disease 11399
            cerebrovascular disease 927
              intracranial arterial disease 310
                arteriovenous malformations of the brain + 33
                cerebral arterial disease + 234
                intracranial aneurysm + 39
                intracranial arteriosclerosis + 74
paths to the root