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 thrombosis
Accession: DOID:4193
browse the term
Definition: Formation or presence of a blood clot (THROMBUS) in a blood vessel within the SKULL. Intracranial thrombosis can lead to thrombotic occlusions and BRAIN INFARCTION. The majority of the thrombotic occlusions are associated with ATHEROSCLEROSIS.
Synonyms: exact_synonym: Brain Thrombosis; Brain Thrombus; Cerebral Thromboses; Cerebral Thrombosis; Cerebral Thrombus; Intracranial Thromboses; brain thromboses; intracranial thrombus
narrow_synonym: CVT; cerebral venous thrombosis
primary_id: MESH:D020767
xref: ICD9CM:434.0 ; MONDO:0002907
For additional species annotation, visit the
Alliance of Genome Resources .
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PLAT
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:8678742
NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
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SERPINC1
serpin family C member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6636041
NCBI chr 9:116,181,988...116,193,100
Ensembl chr 9:116,181,670...116,193,201
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VWF
von Willebrand factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3111251
NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,452
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F3
coagulation factor III, tissue factor
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:17969370
RGD:2313859
NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666
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GP1BB
glycoprotein Ib platelet subunit beta
ISO
RGD
PMID:17095718
RGD:11040529
NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
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HMOX1
heme oxygenase 1
treatment
ISO
associated with Anemia, Sickle Cell
RGD
PMID:23590132
RGD:10755698
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ITGA2B
integrin subunit alpha 2b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1605806
NCBI chr12:18,860,739...18,877,381
Ensembl chr12:18,860,739...18,877,381
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ITGB3
integrin subunit beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1605806
NCBI chr12:16,694,466...16,752,228
Ensembl chr12:16,693,514...16,752,292
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KLKB1
kallikrein B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25339356
NCBI chr15:47,071,581...47,100,272
Ensembl chr15:47,071,556...47,103,622
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SERPIND1
serpin family D member 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11805133
NCBI chr14:50,427,121...50,436,470
Ensembl chr14:50,427,115...50,436,468
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STXBP2
syntaxin binding protein 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30696774
NCBI chr 2:71,504,575...71,513,446
Ensembl chr 2:71,504,569...71,513,422
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THBD
thrombomodulin
ISO
RGD
PMID:21885846
RGD:5684980
NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099
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TLR2
toll like receptor 2
ISO
RGD
PMID:28572286
RGD:15090824
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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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 chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
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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 chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026
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F2
coagulation factor II, thrombin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12269725
NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
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GPX3
glutathione peroxidase 3
no_association
ISO
DNA:SNPs, haplotypes:promoter:rs8177412, rs870407, rs870406 (human)
RGD
PMID:20946167
RGD:401827165
NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026
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MTHFR
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18941937
NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
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F5
coagulation factor V
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18382986
NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066
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PLAU
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10668740
NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
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PROS1
protein S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18382986
NCBI chr13:165,915,298...165,999,118
Ensembl chr13:165,911,366...165,999,811
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