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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Intracranial Embolism and Thrombosis
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Accession:DOID:9005741 term browser browse the term
Definition:Embolism or thrombosis involving blood vessels which supply intracranial structures. Emboli may originate from extracranial or intracranial sources. Thrombosis may occur in arterial or venous structures.
Synonyms:exact_synonym: Brain Embolism and Thrombosis;   Cerebral Embolism and Thrombosis
 primary_id: MESH:D002542

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Intracranial Embolism and Thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:7482654 PMID:8427107 NCBI chrNW_004955536:730,962...754,333
Ensembl chrNW_004955536:730,981...756,394 		JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9403446 NCBI chrNW_004955437:17,995,726...18,000,542
Ensembl chrNW_004955437:17,994,537...18,000,209 		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 chrNW_004955423:254,060...264,448
Ensembl chrNW_004955423:254,189...264,159 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO RGD PMID:17095718 RGD:11040529 NCBI chrNW_004955442:18,359,664...18,360,979
Ensembl chrNW_004955442:18,359,664...18,360,979 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO associated with Anemia, Sickle Cell RGD PMID:23590132 RGD:10755698 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979 		JBrowse link
G Itga2b integrin subunit alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chrNW_004955451:17,381,323...17,392,122
Ensembl chrNW_004955451:17,382,779...17,391,859 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1605806 NCBI chrNW_004955478:9,788,192...9,830,254
Ensembl chrNW_004955478:9,788,149...9,823,746 		JBrowse link
G Klkb1 kallikrein B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chrNW_004955403:22,835,544...22,856,355
Ensembl chrNW_004955403:22,833,982...22,856,389 		JBrowse link
G Serpind1 serpin family D member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11805133 NCBI chrNW_004955442:19,525,411...19,537,986
Ensembl chrNW_004955442:19,525,411...19,538,384 		JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:30696774 NCBI chrNW_004955563:1,617,621...1,624,441
Ensembl chrNW_004955563:1,617,621...1,624,441 		JBrowse link
G Thbd thrombomodulin ISO RGD PMID:21885846 RGD:5684980 NCBI chrNW_004955415:30,222,830...30,226,406 JBrowse link
G Tlr2 toll like receptor 2 ISO RGD PMID:28572286 RGD:15090824 NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258 		JBrowse link
cerebral venous thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Cerebral venous thrombosis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595 		JBrowse link
G Gpx3 glutathione peroxidase 3 no_association ISO DNA:SNPs, haplotype:promoter:-942 A>C, -927 T>C, -861 A>T, -302 A>T, -284 T>A, -568 T>C, -518 T>C, -65 T>C (human) RGD PMID:18096833 PMID:19095977 RGD:401827161 RGD:401827164 NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032 		JBrowse link
intracranial embolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kl klotho susceptibility ISO DNA:polymorphism:promoter:-395G>A(human) RGD PMID:16973281 RGD:10403059 NCBI chrNW_004955431:12,782,913...12,833,215
Ensembl chrNW_004955431:12,782,846...12,833,215 		JBrowse link
intracranial sinus thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12269725 NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517 		JBrowse link
G Gpx3 glutathione peroxidase 3 no_association ISO DNA:SNPs, haplotypes:promoter:rs8177412, rs870407, rs870406 (human) RGD PMID:20946167 RGD:401827165 NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18941937 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240 		JBrowse link
intracranial thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:8678742 NCBI chrNW_004955536:730,962...754,333
Ensembl chrNW_004955536:730,981...756,394 		JBrowse link
G Serpinc1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6636041 NCBI chrNW_004955406:14,024,183...14,036,206
Ensembl chrNW_004955406:14,024,313...14,035,948 		JBrowse link
G Vwf von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:3111251 NCBI chrNW_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571 		JBrowse link
sagittal sinus thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V ISO CTD Direct Evidence: marker/mechanism CTD PMID:18382986 NCBI chrNW_004955462:7,695,004...7,757,832
Ensembl chrNW_004955462:7,694,939...7,757,463 		JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:10668740 NCBI chrNW_004955437:17,995,726...18,000,542
Ensembl chrNW_004955437:17,994,537...18,000,209 		JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:18382986 NCBI chrNW_004955407:3,514,900...3,566,165
Ensembl chrNW_004955407:3,535,388...3,565,058 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      cardiovascular system disease 4073
        vascular disease 2851
          cerebrovascular disease 878
            Intracranial Embolism and Thrombosis 21
              intracranial embolism 1
              intracranial thrombosis + 20
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            cerebrovascular disease 878
              Intracranial Embolism and Thrombosis 21
                intracranial embolism 1
                intracranial thrombosis + 20
paths to the root