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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 IEA GAD PMID:15118671 RGD:1331525 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Experimental RGD PMID:23844137 RGD:8547935 NCBI chr 6:32,180,969...32,184,380
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G AOC3 amine oxidase copper containing 3 ISO protein:decreased expression:cerebral artery RGD PMID:18312104 RGD:2313912 NCBI chr17:42,851,182...42,858,130
Ensembl chr17:42,851,184...42,858,130
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment IDA RGD PMID:25316629 RGD:11522723 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:circle of Willis (rat) RGD PMID:19164781, PMID:25316629 RGD:2307000, RGD:11522723 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP RGD PMID:14739420 RGD:1581199 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL22A1 collagen type XXII alpha 1 chain susceptibility IAGP DNA:SNPs:cds:multiple(human) RGD PMID:30541770 RGD:13831344 NCBI chr 8:138,588,235...138,914,087
Ensembl chr 8:138,588,235...138,914,041
JBrowse link
G CST3 cystatin C IEP protein:decreased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
JBrowse link
G CTSB cathepsin B IEP
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 chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,448
Ensembl chr 8:11,842,524...11,869,448
JBrowse link
G CTSK cathepsin K IEP protein:increased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,796,208...150,808,260
Ensembl chr 1:150,796,208...150,808,260
JBrowse link
G CTSS cathepsin S IEP protein:increased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 1:150,730,188...150,765,778
Ensembl chr 1:150,730,188...150,765,792
JBrowse link
G ELN elastin TAS RGD PMID:15218274 RGD:1580328 NCBI chr 7:74,027,772...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G ENG endoglin IAGP RGD PMID:10223461 RGD:1580964 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Brain Aneurysm ClinVar PMID:16835936 PMID:19006240 PMID:25525159 PMID:25741868 PMID:26038974 PMID:28492532 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
JBrowse link
G IL6 interleukin 6 IAGP RGD PMID:16648144 RGD:1580488 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G MMP12 matrix metallopeptidase 12 no_association IAGP RGD PMID:11546917 RGD:1582365 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982
JBrowse link
G MMP14 matrix metallopeptidase 14 IEP RGD PMID:9724118 RGD:1582590 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,027
JBrowse link
G MMP2 matrix metallopeptidase 2 susceptibility ISO
IAGP
IEP
mRNA:increased expression:blood vessel RGD PMID:17569872, PMID:16961137, PMID:9724118 RGD:2290352, RGD:1582646, RGD:1582590 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment
susceptibility
ISO
IEP
IAGP
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 chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NCF1 neutrophil cytosolic factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19381132 NCBI chr 7:74,773,962...74,789,376
Ensembl chr 7:74,773,962...74,789,376
JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:21321533 RGD:5131897 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
JBrowse link
G NOS3 nitric oxide synthase 3 ISO RGD PMID:21321533, PMID:21321533 RGD:5131897, RGD:5131897 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting susceptibility IAGP DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Brain aneurysm
ClinVar PMID:25741868, PMID:12842373 RGD:1580867 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel susceptibility IAGP DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr 4:88,007,635...88,077,779
Ensembl chr 4:88,007,635...88,077,777
JBrowse link
G PLAU plasminogen activator, urokinase ISO RGD PMID:21786025 RGD:6483795 NCBI chr10:73,909,182...73,917,497
Ensembl chr10:73,909,177...73,917,496
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:17569872 RGD:2290352 NCBI chr  X:47,582,408...47,586,789
Ensembl chr  X:47,582,408...47,586,789
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO mRNA:increased expression:blood vessel RGD PMID:17569872 RGD:2290352 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:24628611 RGD:10450592 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G VCAN versican IAGP DNA:SNP: :rs173686 (human) RGD PMID:16917090 RGD:1598495 NCBI chr 5:83,471,744...83,582,302
Ensembl chr 5:83,471,618...83,582,303
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 IAGP ClinVar Annotator: match by term: ANEURYSM, INTRACRANIAL BERRY, 12 ClinVar
OMIM
NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18966
    disease of anatomical entity 17449
      cardiovascular system disease 3886
        vascular disease 2794
          Aneurysm 171
            intracranial aneurysm 30
              intracranial berry aneurysm + 1
Path 2
Term Annotations click to browse term
  disease 18966
    disease of anatomical entity 17449
      nervous system disease 13510
        central nervous system disease 11538
          brain disease 10704
            cerebrovascular disease 831
              intracranial arterial disease 259
                cerebral arterial disease 205
                  intracranial aneurysm 30
                    intracranial berry aneurysm + 1
paths to the root