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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 aneurysm
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Accession:DOID:10941 term browser browse the term
Definition:Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)
Synonyms:exact_synonym: Anterior Cerebral Artery Aneurysm;   Anterior Communicating Artery Aneurysm;   Basilar Artery Aneurysm;   Basilar Artery Aneurysms;   Berry Aneurysm;   Berry Aneurysms;   Brain Aneurysm;   Brain Aneurysms;   Cerebral Aneurysm;   Cerebral Aneurysms;   Giant Intracranial Aneurysm;   Giant Intracranial Aneurysms;   Intracranial Aneurysms;   Intracranial Mycotic Aneurysm;   Intracranial Mycotic Aneurysms;   Middle Cerebral Artery Aneurysm;   Posterior Cerebral Artery Aneurysm;   Posterior Communicating Artery Aneurysm
 primary_id: MESH:D002532;   RDO:0001920
 xref: NCI:C34458
For additional species annotation, visit the Alliance of Genome Resources.

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intracranial aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Experimental RGD PMID:23844137 RGD:8547935 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129 		JBrowse link
G AOC3 amine oxidase copper containing 3 ISO protein:decreased expression:cerebral artery RGD PMID:18312104 RGD:2313912 NCBI chr 9:20,158,581...20,179,773
Ensembl chr 9:20,157,410...20,241,376 		JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:25316629 RGD:11522723 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:circle of Willis (rat) RGD PMID:19164781 PMID:25316629 RGD:11522723 RGD:2307000 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO RGD PMID:14739420 RGD:1581199 NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527 		JBrowse link
G COL22A1 collagen type XXII alpha 1 chain susceptibility ISO DNA:SNPs:cds:multiple(human) RGD PMID:30541770 RGD:13831344 NCBI chr13:33,735,490...33,996,229
Ensembl chr13:33,735,656...33,996,401 		JBrowse link
G CTSB cathepsin B ISO mRNA, protein:increased expression, increased activity:Circle of Willis (rat)
protein:increased expression:cerebral aneurysm (human)		 RGD PMID:18635848 RGD:2306495 NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801 		JBrowse link
G CTSK cathepsin K ISO mRNA:increased expression:brain, artery
protein:increased expression:brain, artery		 RGD PMID:18635848 RGD:2306495 NCBI chr17:59,928,725...59,938,293
Ensembl chr17:59,929,287...59,938,507 		JBrowse link
G CTSS cathepsin S ISO mRNA:increased expression:brain, artery
protein:increased expression:brain, artery		 RGD PMID:18635848 RGD:2306495 NCBI chr17:59,893,840...59,910,878
Ensembl chr17:59,893,840...59,910,849 		JBrowse link
G ENG endoglin ISO RGD PMID:10223461 RGD:1580964 NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064 		JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Brain Aneurysm ClinVar PMID:16835936 PMID:19006240 PMID:25525159 PMID:25741868 PMID:26038974 PMID:28492532 NCBI chr11:17,311,238...17,551,536
Ensembl chr11:17,311,226...17,551,536 		JBrowse link
G IL6 interleukin 6 ISO RGD PMID:16648144 RGD:1580488 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G LOC607874 cystatin-C-like ISO protein:decreased expression:brain, artery
mRNA:decreased expression:brain, artery		 RGD PMID:18635848 RGD:2306495 NCBI chr23:49,562...53,618 JBrowse link
G MMP12 matrix metallopeptidase 12 no_association ISO RGD PMID:11546917 RGD:1582365 NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO RGD PMID:9724118 RGD:1582590 NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122 		JBrowse link
G MMP2 matrix metallopeptidase 2 susceptibility ISO mRNA:increased expression:blood vessel RGD PMID:9724118 PMID:16961137 PMID:17569872 RGD:1582590 RGD:1582646 RGD:2290352 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G MMP9 matrix metallopeptidase 9 susceptibility
treatment		 ISO mRNA, protein:increased expression:artery
mRNA:increased expression:blood vessel
associated with Diabetes Mellitus, Experimental		 RGD PMID:9310982 PMID:16961137 PMID:17122420 PMID:17569872 PMID:21937941 PMID:23844137 RGD:13204853 RGD:13204858 RGD:1582646 RGD:1642055 RGD:2290352 RGD:8547935 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19381132 NCBI chr 6:5,702,222...5,719,515
Ensembl chr 6:5,605,694...5,719,458 		JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:21321533 RGD:5131897 NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO RGD PMID:21321533 RGD:5131897 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting susceptibility ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Brain aneurysm		 RGD
ClinVar		 PMID:12842373 PMID:25741868 RGD:1580867 NCBI chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503 		JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr32:11,383,441...11,437,603
Ensembl chr32:11,383,424...11,435,438 		JBrowse link
G PLAU plasminogen activator, urokinase ISO RGD PMID:21786025 RGD:6483795 NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:17569872 RGD:2290352 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO mRNA:increased expression:blood vessel RGD PMID:17569872 RGD:2290352 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989 		JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:24628611 RGD:10450592 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G VCAN versican ISO DNA:SNP: :rs173686 (human) RGD PMID:16917090 RGD:1598495 NCBI chr 3:24,127,293...24,238,859
Ensembl chr 3:24,119,181...24,239,192 		JBrowse link
Intracranial Berry Aneurysm 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THSD1 thrombospondin type 1 domain containing 1 ISO OMIM NCBI chr25:197,294...223,804
Ensembl chr25:201,301...223,560 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12822
    disease of anatomical entity 12355
      cardiovascular system disease 3335
        vascular disease 2419
          Aneurysm 149
            intracranial aneurysm 28
              intracranial berry aneurysm + 1
Path 2
Term Annotations click to browse term
  disease 12822
    disease of anatomical entity 12355
      nervous system disease 10079
        central nervous system disease 8504
          brain disease 7859
            cerebrovascular disease 775
              intracranial arterial disease 244
                cerebral arterial disease 194
                  intracranial aneurysm 28
                    intracranial berry aneurysm + 1
paths to the root