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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 Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964 		JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO associated with Diabetes Mellitus, Experimental RGD PMID:23844137 RGD:8547935 NCBI chr17:34,597,460...34,600,937
Ensembl chr17:34,597,862...34,600,936 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO protein:decreased expression:cerebral artery RGD PMID:18312104 RGD:2313912 NCBI chr11:101,330,606...101,339,430
Ensembl chr11:101,330,605...101,341,938 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 treatment ISO RGD PMID:25316629 RGD:11522723 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274 		JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO mRNA:increased expression:circle of Willis (rat) RGD PMID:19164781, PMID:25316629 RGD:2307000, RGD:11522723 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453 		JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO RGD PMID:14739420 RGD:1581199 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544 		JBrowse link
G Col22a1 collagen, type XXII, alpha 1 susceptibility ISO DNA:SNPs:cds:multiple(human) RGD PMID:30541770 RGD:13831344 NCBI chr15:71,795,795...72,150,979
Ensembl chr15:71,795,795...72,034,227 		JBrowse link
G Cst3 cystatin C ISO mRNA, protein:decreased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 2:148,871,722...148,875,512
Ensembl chr 2:148,871,722...148,875,692 		JBrowse link
G Ctsb cathepsin B ISO protein:increased expression:cerebral aneurysm (human)
mRNA, protein:increased expression, increased activity:Circle of Willis (rat)		 RGD PMID:18635848, PMID:18635848 RGD:2306495, RGD:2306495 NCBI chr14:63,122,462...63,145,923
Ensembl chr14:63,122,462...63,145,923 		JBrowse link
G Ctsk cathepsin K ISO mRNA, protein:increased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 3:95,499,210...95,509,387
Ensembl chr 3:95,499,256...95,509,362 		JBrowse link
G Ctss cathepsin S ISO mRNA, protein:increased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 3:95,526,786...95,556,405
Ensembl chr 3:95,526,786...95,556,403 		JBrowse link
G Eln elastin ISO RGD PMID:15218274 RGD:1580328 NCBI chr 5:134,702,595...134,747,368
Ensembl chr 5:134,702,593...134,747,323 		JBrowse link
G Eng endoglin ISO RGD PMID:10223461 RGD:1580964 NCBI chr 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669 		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 chr18:58,008,623...58,210,572
Ensembl chr18:58,008,623...58,210,487 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:16648144 RGD:1580488 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981 		JBrowse link
G Mmp12 matrix metallopeptidase 12 no_association ISO RGD PMID:11546917 RGD:1582365 NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499 		JBrowse link
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) ISO RGD PMID:9724118 RGD:1582590 NCBI chr14:54,431,598...54,442,456
Ensembl chr14:54,431,612...54,445,364 		JBrowse link
G Mmp2 matrix metallopeptidase 2 susceptibility ISO mRNA:increased expression:blood vessel RGD PMID:17569872, PMID:16961137, PMID:9724118 RGD:2290352, RGD:1582646, RGD:1582590 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment
susceptibility		 ISO mRNA:increased expression:blood vessel
associated with Diabetes Mellitus, Experimental
mRNA, protein:increased expression:artery		 RGD PMID:17569872, PMID:21937941, PMID:9310982, PMID:23844137, PMID:16961137, PMID:17122420 RGD:2290352, RGD:13204858, RGD:13204853, RGD:8547935, RGD:1582646, RGD:1642055 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19381132 NCBI chr 5:134,220,053...134,229,628
Ensembl chr 5:134,220,053...134,229,625 		JBrowse link
G Nos1 nitric oxide synthase 1, neuronal IMP RGD PMID:21321533 RGD:5131897 NCBI chr 5:117,866,839...117,958,840
Ensembl chr 5:117,781,032...117,958,840 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO
IMP		 RGD PMID:21321533, PMID:21321533 RGD:5131897, RGD:5131897 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474 		JBrowse link
G Pkd1 polycystin 1, transient receptor poteintial channel interacting susceptibility ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Intracranial aneurysm		 ClinVar PMID:25741868, PMID:12842373 RGD:1580867 NCBI chr17:24,548,689...24,596,514
Ensembl chr17:24,549,834...24,596,508 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr 5:104,453,982...104,505,819
Ensembl chr 5:104,459,450...104,505,819 		JBrowse link
G Plau plasminogen activator, urokinase IDA RGD PMID:21786025 RGD:6483795 NCBI chr14:20,836,662...20,843,388
Ensembl chr14:20,836,660...20,843,385 		JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 ISO RGD PMID:17569872 RGD:2290352 NCBI chr  X:20,870,166...20,874,737
Ensembl chr  X:20,870,166...20,874,735 		JBrowse link
G Timp2 tissue inhibitor of metalloproteinase 2 ISO mRNA:increased expression:blood vessel RGD PMID:17569872 RGD:2290352 NCBI chr11:118,301,061...118,355,411
Ensembl chr11:118,301,069...118,355,740 		JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:24628611 RGD:10450592 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007 		JBrowse link
G Vcan versican ISO DNA:SNP: :rs173686 (human) RGD PMID:16917090 RGD:1598495 NCBI chr13:89,655,309...89,743,027
Ensembl chr13:89,655,312...89,742,509 		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 I, domain 1 ISO ClinVar Annotator: match by term: ANEURYSM, INTRACRANIAL BERRY, 12 ClinVar
OMIM		 NCBI chr 8:22,220,938...22,262,957
Ensembl chr 8:22,227,313...22,261,334 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13473
    disease of anatomical entity 12955
      cardiovascular system disease 3558
        vascular disease 2579
          Aneurysm 157
            intracranial aneurysm 30
              intracranial berry aneurysm + 1
Path 2
Term Annotations click to browse term
  disease 13473
    disease of anatomical entity 12955
      nervous system disease 10494
        central nervous system disease 8836
          brain disease 8156
            cerebrovascular disease 819
              intracranial arterial disease 251
                cerebral arterial disease 199
                  intracranial aneurysm 30
                    intracranial berry aneurysm + 1
paths to the root