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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:carotid artery disease
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Accession:DOID:3407 term browser browse the term
Definition:Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology.
Synonyms:exact_synonym: Carotid Arterial Disease;   Carotid Arterial Diseases;   Carotid Artery Disorder;   Carotid Artery Disorders;   Carotid Atherosclerotic Disease;   Carotid Atherosclerotic Diseases;   carotid artery diseases;   common carotid arterial diseases;   common carotid artery diseases;   disorder of carotid artery;   external carotid arterial diseases;   external carotid artery diseases;   internal carotid arterial diseases;   internal carotid artery diseases
 primary_id: MESH:D002340
 xref: EFO:0003781;   NCI:C84476
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
carotid artery disease 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 ISO
IEP		 protein:increased expression:hippocampus, cerebral cortex (rat) RGD PMID:21906738 PMID:21813211 RGD:6767557, RGD:7245955 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Agt angiotensinogen susceptibility ISO DNA:polymorphism: :p.M235T
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12911327 PMID:17220293 RGD:1601136 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a susceptibility ISO associated with hypertension;DNA:polymorphism:3' utr:g.1166A>C RGD PMID:16519598 RGD:1601148 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:18022660 PMID:15118671 RGD:1331525 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G B2m beta-2 microglobulin disease_progression ISO RGD PMID:21546482 RGD:6482703 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18022660 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cd14 CD14 molecule susceptibility ISO DNA:SNP:promotor
associated with Kidney Failure, Chronic; DNA:polymorphism:promoter:c. -159C>T (human)		 RGD PMID:16873708 PMID:15640605 RGD:2314156, RGD:7204441 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cd163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:17095719 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Cd40lg CD40 ligand disease_progression ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:platelet		 RGD PMID:16752185 PMID:15817881 RGD:2314211, RGD:2314188 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd63 Cd63 molecule disease_progression ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:platelet RGD PMID:15817881 RGD:2314188 NCBI chr 7:1,325,108...1,340,447
Ensembl chr 7:1,325,103...1,399,178 		JBrowse link
G Ctss cathepsin S ISO RGD PMID:9691094 RGD:5687151 NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483 		JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:15063428 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Fgb fibrinogen beta chain ISO RGD PMID:9514419 RGD:1580383 NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO RGD PMID:12624279 RGD:1580411 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:exon:p.I105V (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16973168 PMID:16973168 RGD:5490250 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Hfe homeostatic iron regulator no_association ISO RGD PMID:16886838 RGD:1582684 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hgf hepatocyte growth factor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum RGD PMID:16759302 RGD:2313566 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17095719 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:serum RGD PMID:16579988 RGD:1581882 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO mRNA, protein:decreased expression:carotid artery RGD PMID:16620836 RGD:1624254 NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:16181175 RGD:1598446 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:16801669 RGD:1598484 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Lta lymphotoxin alpha susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :252A>G (human) RGD PMID:17065682 PMID:17065682 RGD:1581937, RGD:1581937 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Ltb4r leukotriene B4 receptor IDA RGD PMID:16293697 RGD:1581954 NCBI chr15:29,263,199...29,265,716 JBrowse link
G Lum lumican ISO RGD PMID:15970583 RGD:1582117 NCBI chr 7:32,358,990...32,365,794
Ensembl chr 7:32,358,614...32,365,793 		JBrowse link
G Mmp1 matrix metallopeptidase 1 severity ISO RGD PMID:15073384 RGD:1582361 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:16339461 RGD:1582626 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO RGD PMID:16339461 RGD:1582626 NCBI chr 8:4,724,009...4,733,864
Ensembl chr 8:4,724,029...4,733,520 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16339461 RGD:1582626 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mras muscle RAS oncogene homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:19198612 NCBI chr 8:99,944,036...100,006,771
Ensembl chr 8:99,944,036...99,996,408 		JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO mRNA:increased expression:carotid artery RGD PMID:17283255 RGD:1642340 NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100 		JBrowse link
G Pappa pappalysin ISO associated with Hyperlipidemia;protein:increased expression:serum RGD PMID:12524241 RGD:1642330 NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666 		JBrowse link
G Pgf placental growth factor severity ISO RGD PMID:17157858 RGD:6483596 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685 		JBrowse link
G Pla2g7 phospholipase A2 group VII severity ISO RGD PMID:22499993 RGD:6482769 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476 		JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:10512912 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Podxl podocalyxin-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22016802 NCBI chr 4:60,135,124...60,181,829
Ensembl chr 4:60,135,109...60,181,899 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO RGD PMID:15284449 RGD:1580688 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Prl prolactin susceptibility ISO protein:decreased expression:serum RGD PMID:17626900 RGD:1642555 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062 		JBrowse link
G Ptgds prostaglandin D2 synthase susceptibility ISO associated with Hypertension;DNA:polymorphism:3'utr:4111A>C RGD PMID:15325247 RGD:1642582 NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833 		JBrowse link
G Selplg selectin P ligand ISO DNA:polymorphism: :p.M62I (human) RGD PMID:22307784 RGD:6218985 NCBI chr12:42,796,690...42,809,908
Ensembl chr12:42,796,580...42,812,585 		JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:12732398 RGD:1580838 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:12801623 RGD:1581414 NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:17119348 RGD:1601556 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:15258789 RGD:1580737 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B disease_progression ISO protein:increased expression:serum RGD PMID:15117849 PMID:15117849 RGD:1624168, RGD:1624168 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16973168 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Ucp2 uncoupling protein 2 ISO RGD PMID:15604415 RGD:1580793 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611 		JBrowse link
G Uts2 urotensin 2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:18338983 RGD:2306795 NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:19717975 RGD:2312760 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
G Vwf von Willebrand factor ISO associated with Kidney Failure, Chronic RGD PMID:20439183 RGD:7207026 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
G Xdh xanthine dehydrogenase ISO associated with Hypertension;DNA:SNP:intron:69901A>C (human) RGD PMID:18712049 RGD:7247654 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
carotid artery dissection term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Carotid artery dissection ClinVar PMID:1301956 PMID:2088165 PMID:2318961 PMID:3263645 PMID:8882879 More... NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Carotid artery dissection ClinVar PMID:25326637 PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
Carotid Artery Dissection, Internal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Internal carotid artery dissection ClinVar PMID:1301956 PMID:2088165 PMID:2318961 PMID:3263645 PMID:8882879 More... NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Internal carotid artery dissection ClinVar PMID:25326637 PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
Carotid Artery Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO protein:decreased expression:vascular smooth muscle cell carotid artery (mouse) RGD PMID:25751394 RGD:329328927 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Acvr1 activin A receptor type 1 IEP mRNA:increased expression:carotic artery (rat) RGD PMID:9622270 RGD:329845558 NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241 		JBrowse link
G Ager advanced glycosylation end product-specific receptor IMP RGD PMID:21680901 RGD:7245963 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a treatment IEP mRNA:increased expression:artery: RGD PMID:9918604 RGD:10047106 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type IEP RGD PMID:16118253 RGD:5509614 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542 		JBrowse link
G Carmn cardiac mesoderm enhancer-associated non-coding RNA IEP mRNA:decreased expression:carotid artery: RGD PMID:34694145 RGD:155883160 NCBI chr18:55,097,848...55,118,769
Ensembl chr18:55,095,230...55,118,825 		JBrowse link
G Cbl Cbl proto-oncogene IEP protein:hyperphosphorylation:tyrosine: RGD PMID:18663086 RGD:11038825 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO
IDA		 human gene in rat model RGD PMID:12223446 PMID:15353495 RGD:8549774, RGD:11526152 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccn2 cellular communication network factor 2 IEP protein:increased expression:arterial wall (rat) RGD PMID:19570811 RGD:2314490 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734 		JBrowse link
G Ccna2 cyclin A2 IEP mRNA:increased expression:artery: RGD PMID:18667424 RGD:10054494 NCBI chr 2:119,427,239...119,433,645
Ensembl chr 2:119,426,089...119,433,577 		JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator disease_progression IEP RGD PMID:10623660 RGD:11341688 NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034 		JBrowse link
G Csf1r colony stimulating factor 1 receptor IEP mRNA, protein:increased expression: carotid artery endothelium (rat) RGD PMID:27135205 RGD:151665776 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415 		JBrowse link
G Csf3 colony stimulating factor 3 IEP protein:increased expression:smooth muscle cell: RGD PMID:15385271 RGD:11039423 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Dusp1 dual specificity phosphatase 1 IEP RGD PMID:9546380 RGD:7771579 NCBI chr10:16,680,478...16,683,275 JBrowse link
G Foxo3 forkhead box O3 IEP RGD PMID:15662024 RGD:10402197 NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561 		JBrowse link
G Gc GC, vitamin D binding protein IEP protein:decreased expression:plasma RGD PMID:21416056 RGD:5509868 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567 		JBrowse link
G Gp6 glycoprotein VI treatment ISO human protein in a mouse model RGD PMID:18566102 RGD:401824643 NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326 		JBrowse link
G H19 H19 imprinted maternally expressed transcript ameliorates IEP RGD PMID:34487706 RGD:156430326 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134 		JBrowse link
G Hdac4 histone deacetylase 4 IEP protein:increased expression:carotid artery: RGD PMID:19389706 RGD:9681448 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hey1 hes-related family bHLH transcription factor with YRPW motif 1 IEP RGD PMID:11971902 RGD:625426 NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312 		JBrowse link
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 IEP RGD PMID:11971902 RGD:625426 NCBI chr 1:26,822,131...26,832,218
Ensembl chr 1:26,822,131...26,832,218 		JBrowse link
G Heyl hes-related family bHLH transcription factor with YRPW motif-like IEP RGD PMID:11971902 RGD:625426 NCBI chr 5:135,508,160...135,525,152
Ensembl chr 5:135,508,160...135,525,152 		JBrowse link
G Hp haptoglobin IEP RGD PMID:19012726 RGD:11041814 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP mRNA:increased expression:carotid artery (rat) RGD PMID:20368503 RGD:4145429 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 protein:increased expression:serum,carotid artery: RGD PMID:12490968 RGD:10046051 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 treatment IEP protein:increased phosphorylation:carotid artery: RGD PMID:17606126 RGD:10046006 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Il18 interleukin 18 IMP
IEP		 protein:increased expression:carotid artery RGD PMID:16864728 PMID:19955748 RGD:4889500, RGD:4889159 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO human gene in rat model RGD PMID:12754378 RGD:2316108 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Itgav integrin subunit alpha V IEP mRNA:increased expression:carotic artery (rat) RGD PMID:9622270 RGD:329845558 NCBI chr 3:68,838,514...68,926,653
Ensembl chr 3:68,838,189...68,926,639 		JBrowse link
G Itgb3 integrin subunit beta 3 IEP protein:increased expression:carotid artery
mRNA:increased expression:carotic artery (rat)		 RGD PMID:17868879 PMID:9622270 RGD:4892652, RGD:329845558 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 IEP protein:increased expression:carotid artery RGD PMID:21330605 RGD:6482230 NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G Klf4 KLF transcription factor 4 ameliorates IMP RGD PMID:29127880 RGD:155230825 NCBI chr 5:70,278,843...70,283,751
Ensembl chr 5:70,278,972...70,283,602 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 IEP protein:increased activity:carotid artery: RGD PMID:14638553 RGD:10412321 NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800 		JBrowse link
G Mir126b microRNA 126b exacerbates ISO RGD PMID:24584117 RGD:401850548 NCBI chr 3:9,415,087...9,415,159 JBrowse link
G Mir145 microRNA 145 IEP miRNA:altered expression:wall of blood vessel (rat) RGD PMID:19542014 RGD:13210556 NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727 		JBrowse link
G Mir223 microRNA 223 IEP RNA:increased expression:carotid artery RGD PMID:26065992 RGD:25824846 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996 		JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP RGD PMID:9327785 RGD:8547910 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp3 matrix metallopeptidase 3 IEP RGD PMID:9327785 RGD:8547910 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP RGD PMID:9327785 RGD:8547910 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor treatment IDA
IMP
IEP		 mRNA:increased expression:carotid artery (rat) RGD PMID:23178522 PMID:8113414 PMID:22546228 RGD:7207861, RGD:10059612, RGD:7240535 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Myh9 myosin, heavy chain 9 IEP protein:increased expression:carotid artery: RGD PMID:11003588 RGD:11533926 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Nono non-POU domain containing, octamer-binding ameliorates ISO RGD PMID:33626912 RGD:155900763 NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952 		JBrowse link
G Nos3 nitric oxide synthase 3 treatment IEP RGD PMID:29207649 RGD:13504723 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Notch1 notch receptor 1 IEP RGD PMID:11971902 RGD:625426 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Notch2 notch receptor 2 IEP RGD PMID:11971902 RGD:625426 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Notch3 notch receptor 3 IEP RGD PMID:11971902 RGD:625426 NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 IEP protein:increased expression:blood vessel: RGD PMID:15044192 RGD:10413907 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO protein:increased expression:vascular smooth muscle cell carotid artery (mouse) RGD PMID:25751394 RGD:329328927 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 IEP mRNA,protein:increased expression:artery: RGD PMID:12649739 RGD:11556213 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600 		JBrowse link
G Pdgfd platelet derived growth factor D IEP protein:increased expression:carotid artery: RGD PMID:18258854 RGD:9854624 NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395 		JBrowse link
G Plat plasminogen activator, tissue type IEP mRNA, protein:increased expression, increased activity:carotid artery (rat) RGD PMID:8343497 RGD:11537479 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Postn periostin IEP mRNA,protein:increased expression:artery: RGD PMID:15514205 RGD:10040973 NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma treatment ISO mouse gene in a rat model RGD PMID:19339015 RGD:8553019 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment IDA
ISO		 mouse gene in a rat model RGD PMID:22892143 PMID:19553562 RGD:7242065, RGD:2311405 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ptgis prostaglandin I2 synthase treatment ISO
IMP		 human gene in a rat model RGD PMID:9933282 PMID:10073980 PMID:10536678 PMID:17303142 RGD:401901254, RGD:401960092, RGD:401959739, RGD:401959382 NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451 		JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 exacerbates IMP
IEP		 mRNA:increased expression:carotid artery (rat)
protein:increased expression:carotid artery (rat)		 RGD PMID:16373608 PMID:10807732 PMID:15271661 RGD:401965416, RGD:9590128, RGD:401965432 NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 IEP protein:increased expression:aorta tunica intima, aorta tunica media RGD PMID:12117720 RGD:39456082 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rangap1 RAN GTPase activating protein 1 IEP protein:increased expression:carotid artery, intima (rat) RGD PMID:24988324 RGD:9835414 NCBI chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438 		JBrowse link
G Robo1 roundabout guidance receptor 1 IEP mRNA:increased expression:carotid artery RGD PMID:26841069 RGD:243048443 NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 IDA RGD PMID:11107082 RGD:5144055 NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610 		JBrowse link
G Serpine1 serpin family E member 1 IEP mRNA:increased expression:carotid artery (rat) RGD PMID:25617690 RGD:11075082 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 ISO human gene in a rat model RGD PMID:17525281 RGD:8618841 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Slit2 slit guidance ligand 2 IEP mRNA:increased expression:carotid artery RGD PMID:26841069 RGD:243048443 NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948 		JBrowse link
G Sp1 Sp1 transcription factor IEP protein:increased phosphorylation:smooth muscle cell: RGD PMID:18258854 RGD:9854624 NCBI chr 7:133,541,302...133,571,961
Ensembl chr 7:133,541,491...133,571,961 		JBrowse link
G Spon2 spondin 2 ISO protein:decreased expression:vascular smooth muscle cell carotid artery (mouse) RGD PMID:25751394 RGD:329328927 NCBI chr14:77,505,695...77,518,001
Ensembl chr14:77,511,901...77,517,996 		JBrowse link
G Tagln transgelin IEP mRNA:decreased expression:carotid artery: RGD PMID:34694145 RGD:155883160 NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668 		JBrowse link
G Tfpi2 tissue factor pathway inhibitor 2 IEP mRNA,protein:increased expression:carotid artery: RGD PMID:20537494 RGD:11060271 NCBI chr 4:31,981,786...31,986,707
Ensembl chr 4:31,982,178...31,986,600 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP mRNA:increased expression:carotic artery (rat) RGD PMID:9622270 RGD:329845558 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 IEP mRNA:increased expression:carotic artery (rat) RGD PMID:9622270 RGD:329845558 NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 IEP mRNA:increased expression:carotic artery (rat) RGD PMID:9622270 RGD:329845558 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 IEP mRNA:increased expression:carotic artery (rat) RGD PMID:9622270 RGD:329845558 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
carotid artery occlusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dab2ip DAB2 interacting protein ISO protein:alternative forms:carotid artery (mouse) RGD PMID:31619063 RGD:401938615 NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280 		JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Carotid artery occlusion ClinVar PMID:1301956 PMID:2088165 PMID:2318961 PMID:3263645 PMID:8882879 More... NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Carotid artery occlusion ClinVar PMID:25326637 PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
carotid artery thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F3 coagulation factor III, tissue factor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:17969370 RGD:2313859 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO RGD PMID:17095718 RGD:11040529 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO associated with Anemia, Sickle Cell RGD PMID:23590132 RGD:10755698 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Itga2b integrin subunit alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
G Klkb1 kallikrein B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053 		JBrowse link
G Serpind1 serpin family D member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11805133 NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519 		JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:30696774 NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458 		JBrowse link
G Thbd thrombomodulin ISO RGD PMID:21885846 RGD:5684980 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:28572286 RGD:15090824 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
Carotid Atherosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt2 alanine-glyoxylate aminotransferase 2 ISO DNA:missense mutations:cds:multiple (human) RGD PMID:25620171 RGD:329961318 NCBI chr 2:59,336,252...59,377,664
Ensembl chr 2:59,336,283...59,377,926 		JBrowse link
G Ccn1 cellular communication network factor 1 ISO protein:increased expression:carotid artery segment (human) RGD PMID:16774841 RGD:329845567 NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484 		JBrowse link
G Fgf21 fibroblast growth factor 21 ISO protein:increased expression:serum: RGD PMID:23887638 RGD:10401924 NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO DNA:SNP:intron:rs9937354 (human) RGD PMID:36894991 RGD:329901850 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Glul glutamate-ammonia ligase ISO RGD PMID:35667160 RGD:401793760 NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO associated with type 2 diabetes mellitus RGD PMID:32862561 RGD:401827123 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Hrg histidine-rich glycoprotein disease_progression ISO protein:increased expression:carotid artery segment (human) RGD PMID:16774841 RGD:329845567 NCBI chr11:78,054,488...78,069,402
Ensembl chr11:78,054,498...78,069,389 		JBrowse link
G Ifnb1 interferon beta 1 ameliorates ISO RGD PMID:17466308 RGD:401854230 NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523 		JBrowse link
G Itln1 intelectin 1 severity ISO protein:decreased expression:blood serum (human) RGD PMID:24956535 RGD:329845846 NCBI chr13:83,932,234...83,958,243
Ensembl chr13:83,948,124...83,958,227 		JBrowse link
G Kmt2d lysine methyltransferase 2D severity ISO RGD PMID:26764138 RGD:155582215 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO protein:increased expression:carotid artery segment (human) RGD PMID:16774841 RGD:329845567 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 exacerbates ISO DNA:silent mutation:exon 4:c.297C>T (rs2279238) (human) RGD PMID:35907563 RGD:401842367 NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO protein:increased expression:myofibroblast: RGD PMID:14970114 RGD:11556214 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600 		JBrowse link
G Phactr1 phosphatase and actin regulator 1 severity ISO DNA:SNPs, haplotype:intron 3: (rs9349379, rs2026458, rs2876300) (human) RGD PMID:31200082 RGD:401900133 NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831 		JBrowse link
G Rbp4 retinol binding protein 4 severity ISO protein:increased expression:blood serum (human) RGD PMID:24956535 RGD:329845846 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
G Sirt1 sirtuin 1 ISO mRNA, protein:decreased expression:carotid artery segment RGD PMID:23224247 RGD:9495924 NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
carotid stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17243563 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Clec11a C-type lectin domain containing 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26564003 NCBI chr 1:94,800,456...94,809,002
Ensembl chr 1:94,801,496...94,804,633 		JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase IDA RGD PMID:17936728 RGD:6483357 NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26564003 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435 		JBrowse link
G F2 coagulation factor II, thrombin ISO DNA:SNP:3'-UTR:in men only (human) RGD PMID:15748240 RGD:5509914 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Fabp2 fatty acid binding protein 2 ISO RGD PMID:16013194 RGD:1582392 NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089 		JBrowse link
G Faslg Fas ligand ISO RGD PMID:14739407 RGD:1582424 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:23426106 RGD:11352755 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Il10 interleukin 10 no_association ISO RGD PMID:16804000 RGD:1598483 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:20498142 RGD:7829829 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:15007005 RGD:1582450 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
G Mfn2 mitofusin 2 treatment IMP RGD PMID:15322553 RGD:1304351 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:insertion, haplotype:promoter:g.-1607insG (human) RGD PMID:12364729 RGD:1580553 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO RGD PMID:16147977 RGD:1582575 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:16147977 RGD:1582575 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:12364729 RGD:1580553 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mt2A metallothionein 2A ISO DNA:snp:5' utr:g.+838C>G (human) RGD PMID:17622311 RGD:6483844 NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:SNP:CDS:rs1801133, c.677C>T, p.A222V, in men only (human) RGD PMID:15748240 RGD:5509914 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO mRNA:increased expression:carotid artery segment (human) RGD PMID:16311343 RGD:401827904 NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722 		JBrowse link
G Pla2g7 phospholipase A2 group VII severity ISO RGD PMID:22075154 RGD:6482772 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476 		JBrowse link
G Procr protein C receptor IEP associated with Neointima RGD PMID:21903947 RGD:13515129 NCBI chr 3:144,254,596...144,258,863
Ensembl chr 3:144,254,380...144,258,903 		JBrowse link
G Ptgis prostaglandin I2 synthase ISO associated with cerebral infarction;DNA:SNP:3' utr: (rs5602) (human) RGD PMID:28704403 RGD:401959402 NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26564003 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
G Tlr2 toll-like receptor 2 treatment IDA RGD PMID:22167462 RGD:7241095 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 treatment IDA RGD PMID:22167462 RGD:7241095 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26564003 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IMP RGD PMID:19958991 RGD:7240515 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		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 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 PMID:25741868 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Mir126b microRNA 126b treatment IDA RGD PMID:32644942 RGD:401850784 NCBI chr 3:9,415,087...9,415,159 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 chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831 		JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Moyamoya disease ClinVar PMID:25741868 PMID:33568546 NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918 		JBrowse link
G RT1-CE16 RT1 class I, locus CE16 susceptibility ISO DNA:polymorphism:HLA-A02 RGD PMID:22234791 RGD:329961315 NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:16723886 RGD:1580650 NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...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: MYMY1 ClinVar PMID:26777256 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 ISO ClinVar Annotator: match by term: Moyamoya disease 1 ClinVar PMID:25741868 NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918 		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 chr10:104,760,059...104,777,732
Ensembl chr10:104,760,137...104,775,969 		JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Moyamoya disease 2 ClinVar PMID:25741868 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Rnf213 ring finger protein 213 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Moyamoya disease 2 | ClinVar Annotator: match by term: RNF213-related condition		 OMIM
CTD
ClinVar		 PMID:21048783 PMID:21799892 PMID:22377813 PMID:22931863 PMID:23110205 More... NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918 		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 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 OMIM
ClinVar		 PMID:24581742 PMID:25741868 PMID:26777256 PMID:28492532 NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671 		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 chr 1:199,751,439...199,900,099
Ensembl chr 1:199,751,439...199,900,069 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      cardiovascular system disease 5538
        vascular disease 4020
          artery disease 2855
            carotid artery disease 161
              Carotid Artery Injuries + 73
              Carotid-Cavernous Sinus Fistula 0
              Moyamoya disease + 11
              carotid artery occlusion 3
              carotid artery thrombosis 10
              carotid stenosis + 42
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            cerebrovascular disease 1000
              carotid artery disease 161
                Carotid Artery Injuries + 73
                Carotid-Cavernous Sinus Fistula 0
                Moyamoya disease + 11
                carotid artery occlusion 3
                carotid artery thrombosis 10
                carotid stenosis + 42
paths to the root