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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;   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;   basilar artery aneurysms;   posterior communicating artery aneurysm
 primary_id: MESH:D002532
 xref: EFO:0003870;   NCI:C34458
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
intracranial aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Ager advanced glycosylation end product-specific receptor IEP associated with Diabetes Mellitus, Experimental RGD PMID:23844137 RGD:8547935 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 IEP protein:decreased expression:cerebral artery RGD PMID:18312104 RGD:2313912 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment ISO RGD PMID:25316629 RGD:11522723 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Ccdc180 coiled-coil domain containing 180 ISO ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 NCBI chr 5:60,154,883...60,223,508
Ensembl chr 5:60,154,910...60,223,522 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IMP
IEP		 mRNA:increased expression:circle of Willis (rat) RGD PMID:19164781 PMID:25316629 RGD:2307000, RGD:11522723 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccn1 cellular communication network factor 1 disease_progression IEP protein:increased expression:common carotid artery plus branches (Rat) RGD PMID:33885814 RGD:329812012 NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO RGD PMID:14739420 RGD:1581199 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Col22a1 collagen type XXII alpha 1 chain susceptibility ISO DNA:SNPs:cds:multiple(human) RGD PMID:30541770 RGD:13831344 NCBI chr 7:103,730,939...103,968,452
Ensembl chr 7:103,731,037...103,968,462 		JBrowse link
G Cst3 cystatin C IEP mRNA:decreased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822 		JBrowse link
G Ctsb cathepsin B ISO
IEP		 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 chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G Ctsk cathepsin K IEP mRNA:increased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550 		JBrowse link
G Ctss cathepsin S IEP mRNA:increased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:serum RGD PMID:32602008 RGD:155882593 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Eln elastin ISO RGD PMID:15218274 RGD:1580328 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Eng endoglin ISO DNA:missense mutation:exon 2:c.179-180CC>AA, p.A60E RGD PMID:19299629 RGD:329845530 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		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 More... NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:16648144 RGD:1580488 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Klf5 KLF transcription factor 5 ISO protein:increased expression:artery RGD PMID:30201338 RGD:155883158 NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445 		JBrowse link
G Kmt2d lysine methyltransferase 2D susceptibility ISO DNA:SNP: :rs3782356(human) RGD PMID:30121816 RGD:155582216 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Mir143 microRNA 143 ISO RNA:decreased expression:artery
RNA:decreased expression:serum		 RGD PMID:32602008 PMID:30201338 RGD:155882593, RGD:155883158 NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110 		JBrowse link
G Mir145 microRNA 145 ISO RNA:decreased expression:serum RGD PMID:30201338 RGD:155883158 NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727 		JBrowse link
G Mmp12 matrix metallopeptidase 12 no_association ISO RGD PMID:11546917 RGD:1582365 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO RGD PMID:9724118 RGD:1582590 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864 		JBrowse link
G Mmp2 matrix metallopeptidase 2 susceptibility IEP
ISO		 mRNA:increased expression:blood vessel RGD PMID:17569872 PMID:9724118 PMID:16961137 RGD:2290352, RGD:1582590, RGD:1582646 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment
susceptibility		 IEP
ISO
IDA		 mRNA:increased expression:blood vessel
protein:increased expression:artery
associated with Diabetes Mellitus, Experimental
mRNA, protein:increased expression:artery		 RGD PMID:17569872 PMID:32602008 PMID:21937941 PMID:9310982 PMID:23844137 More... RGD:2290352, RGD:155882593, RGD:13204858, RGD:13204853, RGD:8547935, RGD:1582646, RGD:1642055 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Myocd myocardin ameliorates ISO RGD PMID:25868147 RGD:401793751 NCBI chr10:49,833,219...49,928,806
Ensembl chr10:49,836,641...49,927,627 		JBrowse link
G Ncbp1 nuclear cap binding protein subunit 1 ISO ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 NCBI chr 5:60,416,023...60,449,004
Ensembl chr 5:60,415,982...60,449,089 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19381132 NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:21321533 RGD:5131897 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP
ISO		 RGD PMID:21321533 PMID:21321533 RGD:5131897, RGD:5131897 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825 		JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:21786025 RGD:6483795 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Sox17 SRY-box transcription factor 17 susceptibility
no_association		 ISO protein:decreased expression:middle cerebral artery (human)
DNA:SNP:enhancer: (rs10958409) (human)
DNA:SNP:enhancer: (rs1072737) (human)		 RGD PMID:25596186 PMID:18997786 PMID:31250579 PMID:20364137 PMID:31040677 More... RGD:329853324, RGD:329955569, RGD:329955568, RGD:329955465, RGD:329955463, RGD:329853736, RGD:329853325 NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228 		JBrowse link
G Sycp1 synaptonemal complex protein 1 ISO ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:190,296,688...190,456,687
Ensembl chr 2:190,296,954...190,456,737 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 IEP RGD PMID:17569872 RGD:2290352 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 IEP mRNA:increased expression:blood vessel RGD PMID:17569872 RGD:2290352 NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611 		JBrowse link
G Tnf tumor necrosis factor treatment IMP RGD PMID:24628611 RGD:10450592 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vcan versican ISO DNA:SNP: :rs173686 (human) RGD PMID:16917090 RGD:1598495 NCBI chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA,protein:increased expression:artery RGD PMID:32602008 RGD:155882593 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:serum, artery RGD PMID:32602008 RGD:155882593 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
G Zfp658 zinc finger protein 658 ISO ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial ClinVar PMID:25741868 NCBI chr 1:93,992,467...94,005,689
Ensembl chr 1:93,992,469...94,005,687 		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 ClinVar Annotator: match by term: Aneurysm, intracranial berry, 12 OMIM
ClinVar		 PMID:25741868 PMID:27895300 NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      cardiovascular system disease 5538
        vascular disease 4020
          Aneurysm 258
            intracranial aneurysm 44
              intracranial berry aneurysm + 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            cerebrovascular disease 1000
              intracranial arterial disease 331
                cerebral arterial disease 254
                  intracranial aneurysm 44
                    intracranial berry aneurysm + 1
paths to the root