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
Accession: DOID:10941
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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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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
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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
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
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
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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
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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
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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
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
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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
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
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