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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:intracranial arterial disease
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Accession:DOID:13089 term browser browse the term
Definition:Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.
Synonyms:exact_synonym: Arterial Brain Disease;   Arterial Brain Diseases;   Arterial Brain Disorder;   Arterial Brain Disorders;   Intracranial Arterial Disorder;   Intracranial Arterial Disorders;   intracranial arterial diseases
 primary_id: MESH:D020765;   RDO:0005158
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Amyloid Angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31939705 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT
ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
CTD
ClinVar
OMIM
PMID:1303239 PMID:1679289 PMID:2111584 PMID:8610157 PMID:9754958 More... NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
arteriovenous malformations of the brain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISS OMIM:108010 MouseDO NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376
JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Eng endoglin disease_progression ISO
ISS
DNA:polymorphism: : 207G>A(human)
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
OMIM:108010
ClinVar
MouseDO
RGD
PMID:25741868 PMID:24876084 PMID:24520391 RGD:11041171, RGD:11041564 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
JBrowse link
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 NCBI chr16:2,228,467...2,295,126
Ensembl chr16:2,228,287...2,292,556
JBrowse link
G Il6 interleukin 6 ISO OMIM NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain OMIM
ClinVar
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474
JBrowse link
G Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 9:42,200,708...42,326,708
Ensembl chr 9:42,200,278...42,326,698
JBrowse link
G Notch4 notch receptor 4 ISO
ISS
OMIM:108010 MouseDO
RGD
PMID:19546852 RGD:6480671 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584
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 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068
JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277
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 chr 1:163,831,876...163,899,925
Ensembl chr 1:163,832,015...163,899,393
JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:16,216,055...17,808,790
Ensembl chr 7:17,376,372...17,808,790
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Zfyve16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 2:23,713,018...23,757,576
Ensembl chr 2:23,713,766...23,756,990
JBrowse link
CADASIL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CTD
ClinVar
PMID:10371548 PMID:11102981 PMID:15229130 PMID:15834039 PMID:24840674 More... NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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: Recurrent subcortical infarcts
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1
OMIM
ClinVar
PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 More... NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
JBrowse link
CADASIL 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ClinVar
OMIM
PMID:19387015 PMID:25741868 PMID:26063658 PMID:26467025 PMID:28492532 More... NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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 chr10:86,272,757...86,280,702 JBrowse link
G Apoa1 apolipoprotein A1 ISO RGD PMID:20739292 RGD:5508213 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:11061249 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21520056 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:21107133 RGD:5148012 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:14595653 RGD:5688166 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Itm2b integral membrane protein 2B ISS MouseDO NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
JBrowse link
G Mme membrane metallo-endopeptidase severity ISO associated with Alzheimer Disease;protein:decreased expression:frontal lobe cortex (human) RGD PMID:17021406 PMID:21382117 RGD:1600811, RGD:13801026 NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
JBrowse link
G Olr1 oxidized low density lipoprotein receptor 1 ISO RGD PMID:16328515 RGD:1580993 NCBI chr 4:162,926,436...162,949,057
Ensembl chr 4:162,926,439...162,948,523
JBrowse link
G Psen1 presenilin 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 6:103,323,014...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
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 syndrome
ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease
ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
ClinVar Annotator: match by OMIM:600142
OMIM
ClinVar
PMID:11889251 PMID:18316707 PMID:19387015 PMID:21115960 PMID:21482952 More... NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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:25741868 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G Cst3 cystatin C ISO ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2363674 PMID:2567273 PMID:2900981 PMID:8108423 PMID:18566660 More... NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
JBrowse link
intracranial aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Ager advanced glycosylation end product-specific receptor IEP associated with Diabetes Mellitus, Experimental RGD PMID:23844137 RGD:8547935 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Aoc3 amine oxidase, copper containing 3 IEP protein:decreased expression:cerebral artery RGD PMID:18312104 RGD:2313912 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment ISO RGD PMID:25316629 RGD:11522723 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IMP
IEP
mRNA:increased expression:circle of Willis (rat) RGD PMID:19164781 PMID:25316629 RGD:2307000, RGD:11522723 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO RGD PMID:14739420 RGD:1581199 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
JBrowse link
G Col22a1 collagen type XXII alpha 1 chain susceptibility ISO DNA:SNPs:cds:multiple(human) RGD PMID:30541770 RGD:13831344 NCBI chr 7:103,730,939...103,968,452
Ensembl chr 7:103,731,037...103,968,462
JBrowse link
G Cst3 cystatin C IEP mRNA:decreased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
JBrowse link
G Ctsb cathepsin B ISO
IEP
protein:increased expression:cerebral aneurysm (human)
mRNA, protein:increased expression, increased activity:Circle of Willis (rat)
RGD PMID:18635848 PMID:18635848 RGD:2306495, RGD:2306495 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
JBrowse link
G Ctsk cathepsin K IEP mRNA:increased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
JBrowse link
G Ctss cathepsin S IEP mRNA:increased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483
JBrowse link
G Eln elastin ISO RGD PMID:15218274 RGD:1580328 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Eng endoglin ISO RGD PMID:10223461 RGD:1580964 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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 chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:16648144 RGD:1580488 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Mmp12 matrix metallopeptidase 12 no_association ISO RGD PMID:11546917 RGD:1582365 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO RGD PMID:9724118 RGD:1582590 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
JBrowse link
G Mmp2 matrix metallopeptidase 2 susceptibility IEP
ISO
mRNA:increased expression:blood vessel RGD PMID:17569872 PMID:16961137 PMID:9724118 RGD:2290352, RGD:1582646, RGD:1582590 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment
susceptibility
IEP
IDA
ISO
mRNA:increased expression:blood vessel
associated with Diabetes Mellitus, Experimental
mRNA, protein:increased expression:artery
RGD PMID:17569872 PMID:21937941 PMID:9310982 PMID:23844137 PMID:17122420 More... RGD:2290352, RGD:13204858, RGD:13204853, RGD:8547935, RGD:1642055, RGD:1582646 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19381132 NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:21321533 RGD:5131897 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Nos3 nitric oxide synthase 3 IEP
ISO
RGD PMID:21321533 PMID:21321533 RGD:5131897, RGD:5131897 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting susceptibility ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Intracranial aneurysm
ClinVar
RGD
PMID:25741868 PMID:12842373 RGD:1580867 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:21786025 RGD:6483795 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 IEP RGD PMID:17569872 RGD:2290352 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 IEP mRNA:increased expression:blood vessel RGD PMID:17569872 RGD:2290352 NCBI chr10:103,541,199...103,590,611 JBrowse link
G Tnf tumor necrosis factor treatment IMP RGD PMID:24628611 RGD:10450592 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Vcan versican ISO DNA:SNP: :rs173686 (human) RGD PMID:16917090 RGD:1598495 NCBI chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637
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 ClinVar
OMIM
NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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 OMIM:176500 ClinVar
OMIM
RGD
PMID:10391242 PMID:21610757 PMID:11159188 RGD:1358403 NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
ClinVar Annotator: match by OMIM:117300
OMIM
ClinVar
PMID:5457846 PMID:10781099 PMID:25741868 NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
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 IMP RGD PMID:23149556 PMID:24602692 RGD:12790979, RGD:12791996 NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Ace angiotensin I converting enzyme treatment IMP RGD PMID:24471927 RGD:11039026 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Ace2 angiotensin I converting enzyme 2 IEP mRNA, protein:increased expression:brain RGD PMID:24090950 RGD:9685436 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977
JBrowse link
G Adora1 adenosine A1 receptor ISO CTD Direct Evidence: therapeutic CTD PMID:23437309 NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
JBrowse link
G Ager advanced glycosylation end product-specific receptor IEP
ISO
associated with Diabetes Mellitus, Experimental
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25446913 PMID:24211797 RGD:8696008 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Agt angiotensinogen IEP protein:increased expression:brain, serum RGD PMID:24090950 RGD:9685436 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 IEP protein:altered localization: : RGD PMID:15181376 RGD:10047403 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Ak1 adenylate kinase 1 IEP protein:decreased expression:cerebral cortex (rat) RGD PMID:16468349 RGD:5508760 NCBI chr 3:15,912,431...15,923,045 JBrowse link
G Alb albumin treatment ISO RGD PMID:22227456 RGD:11036100 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19309543 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
JBrowse link
G Ap2b1 adaptor related protein complex 2 subunit beta 1 IEP protein:increased degradation:brain RGD PMID:19240038 RGD:13461853 NCBI chr10:68,099,397...68,205,023
Ensembl chr10:68,099,547...68,205,013
JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 treatment IEP RGD PMID:24012531 RGD:13703113 NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540
JBrowse link
G Apoe apolipoprotein E IDA RGD PMID:19623195 RGD:6903926 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G App amyloid beta precursor protein treatment IEP RGD PMID:28963051 RGD:13782054 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G Aqp4 aquaporin 4 treatment IEP RGD PMID:20815926 RGD:8695955 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G Arc activity-regulated cytoskeleton-associated protein IEP RGD PMID:22645329 RGD:10395314 NCBI chr 7:106,555,968...106,559,697
Ensembl chr 7:106,555,785...106,559,378
JBrowse link
G Atf3 activating transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr13:102,751,278...102,800,520
Ensembl chr13:102,751,321...102,764,631
JBrowse link
G Bad BCL2-associated agonist of cell death treatment IDA RGD PMID:22200499 PMID:21891976 RGD:10053665, RGD:10053704 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:23143152 RGD:10054501 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcan brevican IEP RGD PMID:15869933 RGD:9590118 NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:23143152 RGD:10054501 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Bdnf brain-derived neurotrophic factor treatment IEP RGD PMID:20417695 RGD:4891138 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Becn1 beclin 1 treatment IMP RGD PMID:22108007 RGD:11561900 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Bnip3 BCL2 interacting protein 3 IEP protein:increased expression:brain RGD PMID:17379825 RGD:9685412 NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
JBrowse link
G Bnip3l BCL2 interacting protein 3 like IEP RGD PMID:15902200 PMID:21029239 RGD:2314138, RGD:9068917 NCBI chr15:41,174,594...41,197,730
Ensembl chr15:41,174,594...41,197,803
JBrowse link
G C3 complement C3 IEP
ISO
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23199288 PMID:22103620 RGD:7175514 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha IEP RGD PMID:14688616 RGD:1358416 NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994
JBrowse link
G Casp3 caspase 3 treatment IDA
IEP
RGD PMID:21891976 PMID:26868427 PMID:23143152 RGD:10053704, RGD:13782346, RGD:10054501 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp6 caspase 6 IEP RGD PMID:26868427 RGD:13782346 NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502
JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:26868427 RGD:13782346 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
JBrowse link
G Cd36 CD36 molecule treatment ISO RGD PMID:25216018 RGD:11041113 NCBI chr 4:17,317,343...17,410,084 JBrowse link
G Cd86 CD86 molecule IEP protein:increased expression:brain subventricular zone, microglial cell (rat) RGD PMID:19053043 RGD:2313025 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Cdk5 cyclin-dependent kinase 5 ISO RGD PMID:24920629 RGD:13782375 NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112
JBrowse link
G Cldn5 claudin 5 treatment IEP RGD PMID:24842554 RGD:13204729 NCBI chr11:82,212,822...82,214,248 JBrowse link
G Crh corticotropin releasing hormone IEP protein:decreased expression:median eminence of hypothalamus (rat) RGD PMID:21741032 RGD:5490538 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
JBrowse link
G Crp C-reactive protein ISO RGD PMID:15545914 RGD:9585995 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Crtc1 CREB regulated transcription coactivator 1 treatment IEP RGD PMID:20417695 RGD:4891138 NCBI chr16:18,988,197...19,046,913
Ensembl chr16:18,988,250...19,043,381
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO
IEP
mRNA, protein:increased expression:brain: RGD PMID:19298757 PMID:15530654 RGD:11039420, RGD:11039425 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:10825390 RGD:632989 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 IEP mRNA:increased expression:cerebral cortex RGD PMID:10825390 RGD:632989 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 IEP RGD PMID:23002367 RGD:14700877 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Dicer1 dicer 1 ribonuclease III IEP mRNA:decreased expression:brain: RGD PMID:26294080 RGD:11553310 NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO RGD PMID:11726790 RGD:9588643 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha IMP RGD PMID:23516428 RGD:9589049 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
JBrowse link
G Dynll1 dynein light chain LC8-type 1 IEP RGD PMID:9522364 RGD:13208524 NCBI chr12:41,312,367...41,314,742
Ensembl chr12:41,312,367...41,314,741
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17197033 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Egr1 early growth response 1 IEP RGD PMID:22645329 RGD:10395314 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Egr2 early growth response 2 IEP RGD PMID:22645329 RGD:10395314 NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562
JBrowse link
G Egr4 early growth response 4 IEP RGD PMID:22645329 RGD:10395314 NCBI chr 4:118,047,869...118,050,328
Ensembl chr 4:118,047,869...118,050,328
JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2 subunit alpha treatment IDA
IMP
RGD PMID:23669639 PMID:19763736 RGD:10395346, RGD:10755569 NCBI chr 6:97,672,829...97,697,499
Ensembl chr 6:97,672,766...97,706,225
JBrowse link
G Elane elastase, neutrophil expressed treatment IMP RGD PMID:10700596 RGD:10450546 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
JBrowse link
G Eng endoglin ISO RGD PMID:24876084 RGD:11041171 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Epcam epithelial cell adhesion molecule IEP RGD PMID:15950761 RGD:11038820 NCBI chr 6:6,880,142...6,896,103
Ensembl chr 6:6,878,237...6,896,127
JBrowse link
G Ephb2 Eph receptor B2 treatment IEP
ISO
mRNA,protein:increased expression: cortex, cerebral cortex subventricular zone RGD PMID:16321245 PMID:16321245 RGD:1642069, RGD:1642069 NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
JBrowse link
G Epn1 Epsin 1 IEP protein:increased degradation:brain RGD PMID:19240038 RGD:13461853 NCBI chr 1:68,742,491...68,760,507
Ensembl chr 1:68,742,789...68,758,874
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:20833153 PMID:20547143 RGD:10400898, RGD:10401066 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor IEP RGD PMID:9974119 RGD:10401103 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
JBrowse link
G F11 coagulation factor XI ISO RGD PMID:16533887 RGD:11041786 NCBI chr16:46,986,107...47,009,015
Ensembl chr16:46,986,107...47,008,437
JBrowse link
G F12 coagulation factor XII treatment ISO RGD PMID:16533887 PMID:16533887 RGD:11041786, RGD:11041786 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
JBrowse link
G F2 coagulation factor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:29651748 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Fadd Fas associated via death domain treatment ISO
IEP
RGD PMID:18950622 PMID:23378241 RGD:11341807, RGD:11344885 NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
JBrowse link
G Fgf21 fibroblast growth factor 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 1:96,083,495...96,084,738
Ensembl chr 1:96,083,441...96,090,454
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
JBrowse link
G Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr10:26,810,411...26,825,768
Ensembl chr10:26,810,423...26,825,769
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase IDA RGD PMID:25882840 RGD:13792686 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
JBrowse link
G Gdnf glial cell derived neurotrophic factor treatment IMP RGD PMID:29497380 RGD:40925919 NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide treatment IDA RGD PMID:19352052 RGD:9850083 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
JBrowse link
G Ghsr growth hormone secretagogue receptor IMP RGD PMID:19352052 RGD:9850083 NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 treatment IEP RGD PMID:26674869 RGD:11068571 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
JBrowse link
G Grn granulin precursor treatment ISO RGD PMID:23972823 RGD:10401661 NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
JBrowse link
G Grpel1 GrpE-like 1, mitochondrial IEP mRNA:increased expression:cerebral cortex RGD PMID:12505684 RGD:632868 NCBI chr14:74,292,023...74,298,243
Ensembl chr14:74,292,023...74,298,200
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment IDA RGD PMID:28440874 RGD:13792734 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA, protein:increased expression:cerebral cortex, hippocampus, corpus striatum RGD PMID:21957487 RGD:11041635 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Has2 hyaluronan synthase 2 IEP mRNA:increased expression:brain RGD PMID:11283406 RGD:9588631 NCBI chr 7:88,113,326...88,139,337
Ensembl chr 7:88,113,326...88,128,933
JBrowse link
G Hdac4 histone deacetylase 4 treatment IEP mRNA,protein:decreased expression:brain: RGD PMID:23480850 RGD:9681449 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
JBrowse link
G Hdac5 histone deacetylase 5 treatment IEP mRNA,protein:decreased expression:brain: RGD PMID:23480850 RGD:9681449 NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235
JBrowse link
G Hdac9 histone deacetylase 9 IEP mRNA:increased expression:brain: RGD PMID:23480850 RGD:9681449 NCBI chr 6:50,762,074...51,624,311
Ensembl chr 6:50,763,590...51,625,333
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment IDA RGD PMID:21029239 RGD:9068917 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hmgb1 high mobility group box 1 treatment IEP RGD PMID:23480850 RGD:9681449 NCBI chr12:5,973,062...5,978,565 JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP
IDA
ISO
RGD PMID:24252362 PMID:23870531 PMID:20888632 RGD:10755587, RGD:10755755, RGD:10755588 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hp haptoglobin IEP RGD PMID:22103620 RGD:7175514 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 IMP
ISO
rat gene in mouse model RGD PMID:17473852 PMID:21709150 RGD:5688754, RGD:6218961 NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Htra2 HtrA serine peptidase 2 IEP
ISO
protein:increased expression:brain, cytosol (rat)
protein:increased expression:brain, cytosol (mouse)
RGD PMID:16978742 PMID:15306124 RGD:2314385, RGD:5688372 NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
JBrowse link
G Hvcn1 hydrogen voltage-gated channel 1 IMP RGD PMID:31250553 RGD:14985213 NCBI chr12:34,341,673...34,370,010
Ensembl chr12:34,335,190...34,370,141
JBrowse link
G Hvcn1em2Mcwi hydrogen voltage-gated channel 1; zinc finger nuclease induced mutant 2, Medical College of Wisconsin IMP RGD PMID:31250553 RGD:14985213
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO RGD PMID:16286924 RGD:10045955 NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
JBrowse link
G Il11 interleukin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 1:69,069,829...69,076,129
Ensembl chr 1:69,068,137...69,076,129
JBrowse link
G Il13 interleukin 13 IEP protein:increased expression:cerebral cortex RGD PMID:23028794 RGD:7204480 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il1b interleukin 1 beta treatment IEP
ISO
protein:increased expression:cerebral cortex (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25257527 PMID:23028794 PMID:29498696 PMID:24916922 RGD:7204480, RGD:13792833, RGD:10450594 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human gene in a rat model RGD PMID:7790404 RGD:8551708 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il22 interleukin 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186
JBrowse link
G Il4 interleukin 4 IEP protein:increased expression:cerebral cortex RGD PMID:23028794 RGD:7204480 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il5 interleukin 5 IEP RGD PMID:23028794 RGD:7204480 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
JBrowse link
G Il6 interleukin 6 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12374626 PMID:21940958 PMID:25257527 PMID:29498696 RGD:13792833 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha ISO RGD PMID:29967576 RGD:27226878 NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330
JBrowse link
G Irf4 interferon regulatory factor 4 IEP RGD PMID:25652434 RGD:11530061 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
JBrowse link
G Mag myelin-associated glycoprotein treatment IMP RGD PMID:15678116 RGD:9685232 NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656
JBrowse link
G Mapk1 mitogen activated protein kinase 1 treatment IDA RGD PMID:27152455 RGD:13800881 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Mapk3 mitogen activated protein kinase 3 treatment IDA RGD PMID:27152455 RGD:13800881 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
JBrowse link
G Mapt microtubule-associated protein tau treatment IEP
IDA
ISO
RGD PMID:28886009 PMID:25903928 PMID:28886009 RGD:13800886, RGD:13800913, RGD:13800886 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G Mir107 microRNA 107 IEP RNA:increased expression:brain RGD PMID:26294080 RGD:11553310 NCBI chr 1:232,337,767...232,337,853
Ensembl chr 1:232,337,767...232,337,853
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19309543 PMID:24842554 RGD:13204729 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mt3 metallothionein 3 IEP protein:decreased expression:brain RGD PMID:8869568 RGD:9685807 NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment IEP
IDA
RGD PMID:24583056 PMID:21185267 PMID:23777415 RGD:10040971, RGD:10041016, RGD:10040974 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Nae1 NEDD8 activating enzyme E1 subunit 1 IEP RGD PMID:21386696 RGD:13801046 NCBI chr19:446,015...472,145
Ensembl chr19:446,000...472,371
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase treatment IMP RGD PMID:28495827 RGD:13781880 NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
JBrowse link
G Ncam1 neural cell adhesion molecule 1 treatment ISO
IMP
RGD PMID:32962079 PMID:29497380 RGD:40924633, RGD:40925919 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
JBrowse link
G Nefh neurofilament heavy chain ISO RGD PMID:29967576 RGD:27226878 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:brain RGD PMID:29967576 RGD:27226878 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Nefm neurofilament medium chain ISO protein:altered expression:brain RGD PMID:29967576 RGD:27226878 NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment IDA RGD PMID:23880501 PMID:24466583 RGD:10412696, RGD:10412714 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nfkbia NFKB inhibitor alpha treatment IEP RGD PMID:21122797 RGD:10413868 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:10408807 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Ngfr nerve growth factor receptor treatment IDA RGD PMID:22678884 RGD:10413900 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 treatment IEP RGD PMID:24842554 RGD:13204729 NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
G Nos2 nitric oxide synthase 2 IEP
ISO
protein:increased expression:brain (rat)
mRNA:increased expression:brain (mouse)
RGD PMID:21959178 PMID:22020035 RGD:5508751, RGD:5509037 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment IEP protein:increased expression:brain RGD PMID:21120604 PMID:25069640 RGD:5133239, RGD:11035212 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G Nrg1 neuregulin 1 treatment ISO RGD PMID:20691195 RGD:10449015 NCBI chr16:59,250,658...60,303,024
Ensembl chr16:59,250,854...60,296,884
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase treatment IEP associated with Hypertension RGD PMID:17920569 RGD:8657395 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Park7 Parkinsonism associated deglycase treatment ISO RGD PMID:17882163 RGD:13463450 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 treatment ISO
IDA
IEP
RGD PMID:21311064 PMID:25882840 PMID:23143152 PMID:23801245 RGD:5683909, RGD:13792686, RGD:10054501, RGD:11073732 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Pawr pro-apoptotic WT1 regulator treatment ISO
IEP
protein:increased expression:brain: RGD PMID:16403464 PMID:19352052 PMID:11323519 RGD:9835380, RGD:9850083, RGD:9835381 NCBI chr 7:43,645,028...43,725,033
Ensembl chr 7:43,645,084...43,725,028
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha treatment IDA RGD PMID:16917016 RGD:11084934 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta treatment IDA RGD PMID:16917016 RGD:11084934 NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
JBrowse link
G Plat plasminogen activator, tissue type IEP
ISO
CTD Direct Evidence: therapeutic CTD
RGD
PMID:12297567 PMID:17690543 PMID:18453163 PMID:20547619 PMID:29651748 More... RGD:1580876 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:11677890 PMID:15181847 PMID:17702958 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Pld1 phospholipase D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 2:110,849,205...111,047,692
Ensembl chr 2:110,893,608...111,047,692
JBrowse link
G Prkcg protein kinase C, gamma ISO RGD PMID:14688616 RGD:1358416 NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:24159062 RGD:11100027 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 IEP mRNA:increased expression:cerebral cortex RGD PMID:15869933 RGD:9590118 NCBI chr 4:51,397,316...51,595,220
Ensembl chr 4:51,397,601...51,595,218
JBrowse link
G Reln reelin severity ISO RGD PMID:16438965 RGD:13207538 NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
JBrowse link
G Rgma repulsive guidance molecule BMP co-receptor a treatment IEP
IMP
RGD PMID:21840379 PMID:23275173 RGD:9850121, RGD:9850122 NCBI chr 1:127,128,934...127,172,918
Ensembl chr 1:127,128,934...127,172,918
JBrowse link
G Rpl28 ribosomal protein L28 IEP RGD PMID:16805800 RGD:6480229 NCBI chr 1:69,052,148...69,054,735
Ensembl chr 1:69,053,203...69,055,032
JBrowse link
G Runx1 RUNX family transcription factor 1 IAGP mRNA:increased expression:brain RGD PMID:24672479 RGD:11251714 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
G S100a5 S100 calcium binding protein A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 2:176,095,332...176,099,546
Ensembl chr 2:176,097,539...176,099,546
JBrowse link
G Serpine1 serpin family E member 1 IEP RGD PMID:14512838 RGD:1580876 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Serpinf1 serpin family F member 1 treatment IDA RGD PMID:22714093 RGD:8655545 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Serpinh1 serpin family H member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801
JBrowse link
G Shh sonic hedgehog signaling molecule treatment ISO RGD PMID:22324418 RGD:12879461 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Sirt1 sirtuin 1 treatment IMP
ISO
RGD PMID:23600725 PMID:23600725 RGD:9585664, RGD:9585664 NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G Slc12a2 solute carrier family 12 member 2 treatment IMP
ISO
protein:increased expression:brain: RGD PMID:12535773 PMID:27798271 RGD:1580583, RGD:14398833 NCBI chr18:51,348,282...51,416,448
Ensembl chr18:51,348,302...51,416,440
JBrowse link
G Slc2a1 solute carrier family 2 member 1 treatment IEP RGD PMID:9419067 RGD:12879855 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
JBrowse link
G Slc9a1 solute carrier family 9 member A1 treatment IMP RGD PMID:31250553 RGD:14985213 NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
JBrowse link
G Slpi secretory leukocyte peptidase inhibitor treatment IEP RGD PMID:14500739 RGD:9999390 NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
JBrowse link
G Smo smoothened, frizzled class receptor treatment IMP RGD PMID:23696546 PMID:23499832 RGD:12832759, RGD:12879404 NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
JBrowse link
G Smox spermine oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30576531 NCBI chr 3:118,731,814...118,767,242
Ensembl chr 3:118,731,900...118,765,710
JBrowse link
G Snap91 synaptosome associated protein 91 IEP protein:increased degradation:brain RGD PMID:19240038 RGD:13461853 NCBI chr 8:87,738,056...87,852,690
Ensembl chr 8:87,738,824...87,852,367
JBrowse link
G Sod1 superoxide dismutase 1 treatment IDA
IEP
mRNA, protein:increased expression:cerebral cortex (rat) RGD PMID:22001340 PMID:22133807 RGD:8657021, RGD:8657023 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Sphk2 sphingosine kinase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:23043544 NCBI chr 1:96,180,872...96,188,592
Ensembl chr 1:96,180,887...96,188,391
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP RGD PMID:31409163 RGD:14995477 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Th tyrosine hydroxylase IEP protein:decreased expression:substantia nigra pars compacta, neuron (rat) RGD PMID:21366664 RGD:5128609 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
JBrowse link
G Tnf tumor necrosis factor treatment IEP
IMP
RGD PMID:24916922 PMID:15647744 PMID:29498696 RGD:10450594, RGD:13825261, RGD:13792833 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfaip6 TNF alpha induced protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A IMP RGD PMID:15647744 RGD:13825261 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 ameliorates IDA RGD PMID:32736673 RGD:127284860 NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
JBrowse link
G Upp1 uridine phosphorylase 1 IEP mRNA, protein:increased expression:brain (rat) RGD PMID:18457515 RGD:2317094 NCBI chr14:83,809,495...83,829,299
Ensembl chr14:83,809,960...83,829,462
JBrowse link
G Vegfa vascular endothelial growth factor A treatment IMP RGD PMID:29497380 RGD:40925919 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Xdh xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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
ISS
ClinVar Annotator: match by term: Moyamoya disease
OMIM:252350 | OMIM:300845 | OMIM:607151 | OMIM:608796 | OMIM:614042 | OMIM:615750
ClinVar
MouseDO
PMID:25741868 PMID:28492532 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Moyamoya disease ClinVar NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISS OMIM:252350 | OMIM:300845 | OMIM:607151 | OMIM:608796 | OMIM:614042 | OMIM:615750 MouseDO NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
JBrowse link
G Rnf213 ring finger protein 213 ISS
ISO
OMIM:252350 | OMIM:300845 | OMIM:607151 | OMIM:608796 | OMIM:614042 | OMIM:615750
ClinVar Annotator: match by term: Moyamoya disease
MouseDO
ClinVar
PMID:33568546 NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:16723886 RGD:1580650 NCBI chr10:103,541,199...103,590,611 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: Moyamoya disease 1 ClinVar PMID:26777256 NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
JBrowse link
Moyamoya Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf213 ring finger protein 213 susceptibility ISO ClinVar Annotator: match by OMIM:607151
ClinVar Annotator: match by term: Moyamoya disease 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:21048783 PMID:21799892 PMID:22377813 PMID:22931863 PMID:25278557 More... NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918
JBrowse link
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome ClinVar PMID:24011989 PMID:25741868 NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome ClinVar PMID:24011989 NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979
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:10532176 PMID:13129918 PMID:15138499 PMID:15472996 PMID:17994018 More... NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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 ClinVar
OMIM
PMID:24581742 PMID:25741868 PMID:26777256 NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
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 chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:18938189 RGD:10054050 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:18938189 RGD:10054050 NCBI chr13:22,689,783...22,853,920 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IEP RGD PMID:21279683 RGD:10449132 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Il2 interleukin 2 severity ISO protein:increased secretion:mononuclear cell: RGD PMID:8586980 RGD:10047081 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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 chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO RGD PMID:24448401 RGD:14696801 NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
JBrowse link
G Avp arginine vasopressin IEP protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
JBrowse link
G Bdnf brain-derived neurotrophic factor treatment IEP RGD PMID:24622829 RGD:10059369 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
JBrowse link
G Cdk5 cyclin-dependent kinase 5 treatment IEP RGD PMID:27118553 RGD:13792766 NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
JBrowse link
G Eif4e eukaryotic translation initiation factor 4E IEP protein:decreased expression:hippocampus RGD PMID:23053837 RGD:10401142 NCBI chr 2:227,066,519...227,099,261
Ensembl chr 2:227,066,673...227,098,683
JBrowse link
G Epo erythropoietin IEP RGD PMID:17037738 RGD:10400891 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 treatment IEP RGD PMID:22500404 RGD:10402076 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 treatment IEP RGD PMID:22500404 RGD:10402076 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP RGD PMID:24968700 RGD:11352822 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO associated with Alzheimer's disease RGD PMID:25261450 RGD:13792687 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO RGD PMID:25261450 RGD:13792687 NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B severity ISO RGD PMID:25261450 RGD:13792687 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment IDA RGD PMID:27118553 RGD:13792766 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO DNA:polymorphism: :-110A>C(human) RGD PMID:15832029 RGD:10402403
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:24500651 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
JBrowse link
G Igf1 insulin-like growth factor 1 severity ISO
IEP
mRNA,protein:decreased expression:hippocampus: RGD PMID:16181175 PMID:22342912 RGD:1598446, RGD:10045864 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:16983186 RGD:10045873 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:plasma RGD PMID:16600299 RGD:1626633 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
JBrowse link
G Mapt microtubule-associated protein tau treatment IDA RGD PMID:27118553 RGD:13792766 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP RGD PMID:16385583 RGD:1582624 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mtor mechanistic target of rapamycin kinase IEP protein:decreased expression:hippocampus RGD PMID:23053837 RGD:10401142 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29391125 RGD:127285384 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:26308724 PMID:26467025 PMID:27844030 PMID:28492532 NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
JBrowse link
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:28492532 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
JBrowse link
G Pon2 paraoxonase 2 ISO DNA:missense mutation:cds:p.C311S (human) RGD PMID:11803456 RGD:1580219 NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248
JBrowse link
G Psen2 presenilin 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174
JBrowse link
G Rpgrip1l Rpgrip1-like susceptibility ISO DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human) RGD PMID:22425971 RGD:13204815 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Rps6 ribosomal protein S6 treatment IEP RGD PMID:25767501 RGD:11041644 NCBI chr 5:101,371,716...101,374,576
Ensembl chr 5:101,371,136...101,374,602
Ensembl chr 5:101,371,136...101,374,602
JBrowse link
G Sdhaf1 succinate dehydrogenase complex assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19465911 NCBI chr 1:85,576,207...85,577,156
Ensembl chr 1:85,576,041...85,577,366
Ensembl chr 1:85,576,041...85,577,366
JBrowse link
G Snca synuclein alpha ISO protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
JBrowse link
G Sncg synuclein, gamma ISO protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
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 chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
JBrowse link
G Sst somatostatin IEP protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr11:76,956,896...76,958,173
Ensembl chr11:76,956,896...76,958,173
JBrowse link
G Tmem106b transmembrane protein 106B ISO ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr 4:41,328,125...41,347,315
Ensembl chr 4:41,327,994...41,345,619
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-850C>T(human) RGD PMID:11273064 RGD:13825254 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tp53 tumor protein p53 IEP protein:increased expression:brain RGD PMID:18083315 RGD:2290557 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      cardiovascular system disease 4526
        vascular disease 3440
          cerebrovascular disease 831
            intracranial arterial disease 261
              arteriovenous malformations of the brain + 25
              cerebral arterial disease + 207
              intracranial aneurysm + 30
              intracranial arteriosclerosis + 51
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            cerebrovascular disease 831
              intracranial arterial disease 261
                arteriovenous malformations of the brain + 25
                cerebral arterial disease + 207
                intracranial aneurysm + 30
                intracranial arteriosclerosis + 51
paths to the root