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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.


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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agt angiotensinogen susceptibility ISO DNA:polymorphism: :p.M235T
CTD Direct Evidence: marker/mechanism
CTD PMID:12911327, PMID:17220293 RGD:1601136 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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 chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:18022660, PMID:15118671 RGD:1331525 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G B2m beta-2 microglobulin disease_progression ISO RGD PMID:21546482 RGD:6482703 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18022660 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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 chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cd163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:17095719 NCBI chr 4:156,752,063...156,785,467
Ensembl chr 4:156,752,082...156,785,467
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:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
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 7:3,320,250...3,335,583
Ensembl chr 7:3,320,103...3,335,582
JBrowse link
G Ctss cathepsin S ISO RGD PMID:9691094 RGD:5687151 NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:15063428 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fgb fibrinogen beta chain ISO RGD PMID:9514419 RGD:1580383 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Gnb3 G protein subunit beta 3 ISO RGD PMID:12624279 RGD:1580411 NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:exon:p.I105V (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16973168, PMID:16973168 RGD:5490250 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Hfe homeostatic iron regulator no_association ISO RGD PMID:16886838 RGD:1582684 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
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 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17095719 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:serum RGD PMID:16579988 RGD:1581882 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO mRNA, protein:decreased expression:carotid artery RGD PMID:16620836 RGD:1624254 NCBI chr 5:155,812,096...155,913,751 JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:16181175 RGD:1598446 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il10 interleukin 10 ISO RGD PMID:16801669 RGD:1598484 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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 chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Ltb4r leukotriene B4 receptor IDA RGD PMID:16293697 RGD:1581954 NCBI chr15:34,449,299...34,453,352
Ensembl chr15:34,452,116...34,453,171
JBrowse link
G Lum lumican ISO RGD PMID:15970583 RGD:1582117 NCBI chr 7:38,820,058...38,826,862
Ensembl chr 7:38,819,771...38,826,862
JBrowse link
G Mmp1 matrix metallopeptidase 1 severity ISO RGD PMID:15073384 RGD:1582361 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:16339461 RGD:1582626 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO RGD PMID:16339461 RGD:1582626 NCBI chr 8:5,768,808...5,777,741
Ensembl chr 8:5,768,811...5,778,702
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16339461 RGD:1582626 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mras muscle RAS oncogene homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:19198612 NCBI chr 8:107,629,028...107,656,851
Ensembl chr 8:107,629,028...107,681,512
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO mRNA:increased expression:carotid artery RGD PMID:17283255 RGD:1642340 NCBI chr 6:52,122,085...52,156,473
Ensembl chr 6:52,122,085...52,156,472
JBrowse link
G Pappa1 pappalysin 1 ISO associated with Hyperlipidemia;protein:increased expression:serum RGD PMID:12524241 RGD:1642330 NCBI chr 5:80,919,932...81,153,904
Ensembl chr 5:80,920,568...81,150,940
JBrowse link
G Pgf placental growth factor severity ISO RGD PMID:17157858 RGD:6483596 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Pla2g7 phospholipase A2 group VII severity ISO RGD PMID:22499993 RGD:6482769 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:10512912 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Podxl podocalyxin-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22016802 NCBI chr 4:58,829,049...58,893,353
Ensembl chr 4:58,829,060...58,893,170
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO RGD PMID:15284449 RGD:1580688 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Prl prolactin susceptibility ISO protein:decreased expression:serum RGD PMID:17626900 RGD:1642555 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
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 3:2,686,125...2,689,059
Ensembl chr 3:2,686,123...2,689,084
JBrowse link
G Selplg selectin P ligand ISO DNA:polymorphism: :p.M62I (human) RGD PMID:22307784 RGD:6218985 NCBI chr12:48,577,905...48,579,196
Ensembl chr12:48,577,905...48,579,196
JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:12732398 RGD:1580838 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:12801623 RGD:1581414 NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:17119348 RGD:1601556 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:15258789 RGD:1580737 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16973168 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Ucp2 uncoupling protein 2 ISO RGD PMID:15604415 RGD:1580793 NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
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 5:168,078,748...168,084,133
Ensembl chr 5:168,078,748...168,084,145
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:19717975 RGD:2312760 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vwf von Willebrand factor ISO associated with Kidney Failure, Chronic RGD PMID:20439183 RGD:7207026 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
G Xdh xanthine dehydrogenase ISO associated with Hypertension;DNA:SNP:intron:69901A>C (human) RGD PMID:18712049 RGD:7247654 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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, PMID:9157944, PMID:9484998, PMID:10782930, PMID:10978268, PMID:12837857, PMID:16183066, PMID:16250003, PMID:17094996, PMID:17765246, PMID:18677035, PMID:19318025, PMID:20506408, PMID:21310417, PMID:21475731, PMID:21722902, PMID:22390909, PMID:22698793, PMID:23375686, PMID:24033266, PMID:25741868, PMID:27765764, PMID:28492532, PMID:31345425 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
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 chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
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, PMID:9157944, PMID:9484998, PMID:10782930, PMID:10978268, PMID:12837857, PMID:16183066, PMID:16250003, PMID:17094996, PMID:17765246, PMID:18677035, PMID:19318025, PMID:20506408, PMID:21310417, PMID:21475731, PMID:21722902, PMID:22390909, PMID:22698793, PMID:23375686, PMID:24033266, PMID:25741868, PMID:27765764, PMID:28492532, PMID:31345425 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
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 chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agtr1a angiotensin II receptor, type 1a treatment IEP mRNA:increased expression:artery: RGD PMID:9918604 RGD:10047106 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type IEP RGD PMID:16118253 RGD:5509614 NCBI chr10:56,851,734...56,864,049
Ensembl chr10:56,851,734...56,864,005
JBrowse link
G Cbl Cbl proto-oncogene IEP protein:hyperphosphorylation:tyrosine: RGD PMID:18663086 RGD:11038825 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccn2 cellular communication network factor 2 IEP protein:increased expression:arterial wall (rat) RGD PMID:19570811 RGD:2314490 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Ccna2 cyclin A2 IEP mRNA:increased expression:artery: RGD PMID:18667424 RGD:10054494 NCBI chr 2:123,274,727...123,282,266
Ensembl chr 2:123,275,881...123,282,214
JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator disease_progression IEP RGD PMID:10623660 RGD:11341688 NCBI chr 9:65,534,608...65,586,395
Ensembl chr 9:65,534,704...65,587,251
JBrowse link
G Csf3 colony stimulating factor 3 IEP protein:increased expression:smooth muscle cell: RGD PMID:15385271 RGD:11039423 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Dusp1 dual specificity phosphatase 1 IEP RGD PMID:9546380 RGD:7771579 NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
JBrowse link
G Foxo3 forkhead box O3 IEP RGD PMID:15662024 RGD:10402197 NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
JBrowse link
G Gc GC, vitamin D binding protein IEP protein:decreased expression:plasma RGD PMID:21416056 RGD:5509868 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Hdac4 histone deacetylase 4 IEP protein:increased expression:carotid artery: RGD PMID:19389706 RGD:9681448 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hey1 hes-related family bHLH transcription factor with YRPW motif 1 IEP RGD PMID:11971902 RGD:625426 NCBI chr 2:95,320,147...95,322,701
Ensembl chr 2:95,320,283...95,322,696
JBrowse link
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 IEP RGD PMID:11971902 RGD:625426 NCBI chr 1:29,191,170...29,201,257
Ensembl chr 1:29,191,192...29,201,531
JBrowse link
G Heyl hes-related family bHLH transcription factor with YRPW motif-like IEP RGD PMID:11971902 RGD:625426 NCBI chr 5:140,923,914...140,940,905
Ensembl chr 5:140,923,914...140,940,905
JBrowse link
G Hp haptoglobin IEP RGD PMID:19012726 RGD:11041814 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP mRNA:increased expression:carotid artery (rat) RGD PMID:20368503 RGD:4145429 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum,carotid artery: RGD PMID:12490968 RGD:10046051 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf1r insulin-like growth factor 1 receptor treatment IEP protein:increased phosphorylation:carotid artery: RGD PMID:17606126 RGD:10046006 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Il18 interleukin 18 IMP
IEP
protein:increased expression:carotid artery RGD PMID:16864728, PMID:19955748 RGD:4889500, RGD:4889159 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO human gene in rat model RGD PMID:12754378 RGD:2316108 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Itgb3 integrin subunit beta 3 IEP protein:increased expression:carotid artery RGD PMID:17868879 RGD:4892652 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Jag1 jagged canonical Notch ligand 1 IEP protein:increased expression:carotid artery RGD PMID:21330605 RGD:6482230 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 IEP protein:increased activity:carotid artery: RGD PMID:14638553 RGD:10412321 NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
JBrowse link
G Mir223 microRNA 223 IEP RNA:increased expression:carotid artery RGD PMID:26065992 RGD:25824846 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP RGD PMID:9327785 RGD:8547910 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 IEP RGD PMID:9327785 RGD:8547910 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP RGD PMID:9327785 RGD:8547910 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Myh9 myosin, heavy chain 9 IEP protein:increased expression:carotid artery: RGD PMID:11003588 RGD:11533926 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Nos3 nitric oxide synthase 3 treatment IEP RGD PMID:29207649 RGD:13504723 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Notch1 notch receptor 1 IEP RGD PMID:11971902 RGD:625426 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Notch2 notch receptor 2 IEP RGD PMID:11971902 RGD:625426 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
G Notch3 notch receptor 3 IEP RGD PMID:11971902 RGD:625426 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 IEP protein:increased expression:blood vessel: RGD PMID:15044192 RGD:10413907 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 IEP mRNA,protein:increased expression:artery: RGD PMID:12649739 RGD:11556213 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
JBrowse link
G Pdgfd platelet derived growth factor D IEP protein:increased expression:carotid artery: RGD PMID:18258854 RGD:9854624 NCBI chr 8:4,441,010...4,666,754
Ensembl chr 8:4,440,876...4,669,014
JBrowse link
G Plat plasminogen activator, tissue type IEP mRNA, protein:increased expression, increased activity:carotid artery (rat) RGD PMID:8343497 RGD:11537479 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Postn periostin IEP mRNA,protein:increased expression:artery: RGD PMID:15514205 RGD:10040973 NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma treatment ISO mouse gene in a rat model RGD PMID:19339015 RGD:8553019 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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 chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
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 chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Rangap1 RAN GTPase activating protein 1 IEP protein:increased expression:carotid artery, intima (rat) RGD PMID:24988324 RGD:9835414 NCBI chr 7:122,939,266...122,967,178
Ensembl chr 7:122,940,376...122,967,178
JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 IDA RGD PMID:11107082 RGD:5144055 NCBI chr 1:225,279,698...225,283,246
Ensembl chr 1:225,279,676...225,283,326
JBrowse link
G Serpine1 serpin family E member 1 IEP mRNA:increased expression:carotid artery (rat) RGD PMID:25617690 RGD:11075082 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO human gene in a rat model RGD PMID:17525281 RGD:8618841 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Sp1 Sp1 transcription factor IEP protein:increased phosphorylation:smooth muscle cell: RGD PMID:18258854 RGD:9854624 NCBI chr 7:144,014,173...144,044,635
Ensembl chr 7:144,014,173...144,044,629
JBrowse link
G Tfpi2 tissue factor pathway inhibitor 2 IEP mRNA,protein:increased expression:carotid artery: RGD PMID:20537494 RGD:11060271 NCBI chr 4:28,947,951...28,953,261
Ensembl chr 4:28,947,965...28,953,067
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, PMID:9157944, PMID:9484998, PMID:10782930, PMID:10978268, PMID:12837857, PMID:16183066, PMID:16250003, PMID:17094996, PMID:17765246, PMID:18677035, PMID:19318025, PMID:20506408, PMID:21310417, PMID:21475731, PMID:21722902, PMID:22390909, PMID:22698793, PMID:23375686, PMID:24033266, PMID:25741868, PMID:27765764, PMID:28492532, PMID:31345425 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
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 chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
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 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO RGD PMID:17095718 RGD:11040529 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO associated with Anemia, Sickle Cell RGD PMID:23590132 RGD:10755698 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Itga2b integrin subunit alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
JBrowse link
G Itgb3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Klkb1 kallikrein B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chr16:50,151,127...50,175,407
Ensembl chr16:50,152,008...50,175,458
JBrowse link
G Serpind1 serpin family D member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11805133 NCBI chr11:87,913,814...87,924,880
Ensembl chr11:87,913,806...87,924,816
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:30696774 NCBI chr12:2,180,101...2,191,863
Ensembl chr12:2,180,150...2,191,175
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:21885846 RGD:5684980 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:28572286 RGD:15090824 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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 1:101,595,579...101,596,822
Ensembl chr 1:101,595,579...101,596,822
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO protein:increased expression:myofibroblast: RGD PMID:14970114 RGD:11556214 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
JBrowse link
G Sirt1 sirtuin 1 ISO mRNA, protein:decreased expression:carotid artery segment RGD PMID:23224247 RGD:9495924 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
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 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Clec11a C-type lectin domain containing 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26564003 NCBI chr 1:100,290,374...100,293,515
Ensembl chr 1:100,289,295...100,293,558
JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase IDA RGD PMID:17936728 RGD:6483357 NCBI chr10:88,490,798...88,497,357
Ensembl chr10:88,490,798...88,497,356
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26564003 NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
JBrowse link
G F2 coagulation factor II ISO DNA:SNP:3'-UTR:in men only (human) RGD PMID:15748240 RGD:5509914 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Fabp2 fatty acid binding protein 2 ISO RGD PMID:16013194 RGD:1582392 NCBI chr 2:227,080,912...227,083,654
Ensembl chr 2:227,080,924...227,083,501
JBrowse link
G Faslg Fas ligand ISO RGD PMID:14739407 RGD:1582424 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:23426106 RGD:11352755 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Il10 interleukin 10 no_association ISO RGD PMID:16804000 RGD:1598483 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:20498142 RGD:7829829 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:15007005 RGD:1582450 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Mfn2 mitofusin 2 treatment IMP RGD PMID:15322553 RGD:1304351 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:insertion, haplotype:promoter:g.-1607insG (human) RGD PMID:12364729 RGD:1580553 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO RGD PMID:16147977 RGD:1582575 NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:16147977 RGD:1582575 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:12364729 RGD:1580553 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mt2A metallothionein 2A ISO DNA:snp:5' utr:g.+838C>G (human) RGD PMID:17622311 RGD:6483844 NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Pla2g7 phospholipase A2 group VII severity ISO RGD PMID:22075154 RGD:6482772 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Procr protein C receptor IEP associated with Neointima RGD PMID:21903947 RGD:13515129 NCBI chr 3:151,285,321...151,289,581
Ensembl chr 3:151,285,249...151,289,595
JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Carotid stenosis ClinVar PMID:25741868, PMID:30311386 NCBI chr10:108,527,351...108,626,372
Ensembl chr10:108,527,740...108,624,688
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26564003 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Tlr2 toll-like receptor 2 treatment IDA RGD PMID:22167462 RGD:7241095 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 treatment IDA RGD PMID:22167462 RGD:7241095 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26564003 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IMP RGD PMID:19958991 RGD:7240515 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
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 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Moyamoya disease ClinVar NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918
JBrowse link
G Rnf213 ring finger protein 213 ISS OMIM:252350 | OMIM:300845 | OMIM:607151 | OMIM:608796 | OMIM:614042 | OMIM:615750 MouseDO NCBI chr10:108,527,351...108,626,372
Ensembl chr10:108,527,740...108,624,688
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:16723886 RGD:1580650 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
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 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918
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, PMID:25741868, PMID:28492532 NCBI chr10:108,527,351...108,626,372
Ensembl chr10:108,527,740...108,624,688
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:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
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:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291
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:14730227, PMID:15138499, PMID:15472996, PMID:17994018, PMID:19409525, PMID:20734336, PMID:20970362, PMID:22302747, PMID:22543189, PMID:22752479, PMID:22790431, PMID:22831780, PMID:22946110, PMID:23253043, PMID:23613326, PMID:24033266, PMID:24293535, PMID:24621862, PMID:24998021, PMID:25326635, PMID:25644172, PMID:25741868, PMID:25759435, PMID:25944730, PMID:26034244, PMID:26153420, PMID:26637293, PMID:27176728, PMID:27481187, PMID:27549731, PMID:27551047, PMID:28492532, PMID:29300374, PMID:30311386 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
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:26777256 NCBI chr 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        vascular disease 3386
          artery disease 2372
            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 + 29
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            cerebrovascular disease 831
              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 + 29
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.