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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: Arterial Diseases, Internal Carotid;   Carotid Arterial Disease;   Carotid Arterial Diseases;   Carotid Artery Disorder;   Carotid Artery Disorders;   Carotid Atherosclerotic Disease;   Carotid Atherosclerotic Diseases;   Common Carotid Artery Diseases;   carotid artery diseases;   common carotid arterial diseases;   disorder of carotid artery;   external carotid arterial diseases;   external carotid artery diseases;   internal carotid artery diseases
 primary_id: MESH:D002340
 alt_id: RDO:0005135
 xref: NCI:C84476
For additional species annotation, visit the Alliance of Genome Resources.



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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:135,127,119...135,138,302
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 2:183,089,192...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 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 chr15:29,263,126...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...4,732,956
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 Pappa1 pappalysin 1 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 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 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 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 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 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 chr10:16,680,489...16,683,276 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 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 2:93,096,706...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 1:121,549,839...121,838,545
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 Itgb3 integrin subunit beta 3 IEP protein:increased expression:carotid artery RGD PMID:17868879 RGD:4892652 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 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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 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 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 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 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 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 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 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
carotid artery occlusion 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 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 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 Fgf21 fibroblast growth factor 21 ISO protein:increased expression:serum: RGD PMID:23887638 RGD:10401924 NCBI chr 1:96,083,495...96,084,738
Ensembl chr 1:96,083,441...96,090,454
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 Sirt1 sirtuin 1 ISO mRNA, protein:decreased expression:carotid artery segment RGD PMID:23224247 RGD:9495924 NCBI chr20:25,307,143...25,329,260
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 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 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 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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      cardiovascular system disease 4517
        vascular disease 3436
          artery disease 2401
            carotid artery disease 126
              Carotid Artery Injuries + 51
              Carotid-Cavernous Sinus Fistula 0
              Moyamoya disease + 7
              carotid artery occlusion 2
              carotid artery thrombosis 10
              carotid stenosis + 28
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      nervous system disease 12140
        central nervous system disease 10411
          brain disease 9772
            cerebrovascular disease 830
              carotid artery disease 126
                Carotid Artery Injuries + 51
                Carotid-Cavernous Sinus Fistula 0
                Moyamoya disease + 7
                carotid artery occlusion 2
                carotid artery thrombosis 10
                carotid stenosis + 28
paths to the root