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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 chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:25316629 RGD:11522723 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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 chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO RGD PMID:14739420 RGD:1581199 NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
JBrowse link
G COL22A1 collagen type XXII alpha 1 chain susceptibility ISO DNA:SNPs:cds:multiple(human) RGD PMID:30541770 RGD:13831344 NCBI chr 8:135,241,159...135,567,550
Ensembl chr 8:138,347,432...138,633,084
JBrowse link
G CST3 cystatin C ISO protein:decreased expression:brain, artery
mRNA:decreased expression:brain, artery
RGD PMID:18635848 RGD:2306495 NCBI chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425
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 RGD:2306495 NCBI chr 8:7,333,498...7,359,264 JBrowse link
G CTSK cathepsin K ISO protein:increased expression:brain, artery
mRNA:increased expression:brain, artery
RGD PMID:18635848 RGD:2306495 NCBI chr 1:126,146,555...126,158,662
Ensembl chr 1:129,795,966...129,808,316
JBrowse link
G CTSS cathepsin S ISO mRNA:increased expression:brain, artery
protein:increased expression:brain, artery
RGD PMID:18635848 RGD:2306495 NCBI chr 1:126,084,249...126,118,221
Ensembl chr 1:129,733,996...129,768,318
JBrowse link
G ENG endoglin ISO RGD PMID:10223461 RGD:1580964 NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
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 chr 5:123,673,209...123,953,741
Ensembl chr 5:129,435,248...129,715,711
JBrowse link
G IL6 interleukin 6 ISO RGD PMID:16648144 RGD:1580488 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G LOC100972297 polycystin-1 susceptibility ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Brain aneurysm
RGD
ClinVar
PMID:12842373 PMID:25741868 RGD:1580867 NCBI chr16:604,927...1,697,831 JBrowse link
G MMP12 matrix metallopeptidase 12 no_association ISO RGD PMID:11546917 RGD:1582365 NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO RGD PMID:9724118 RGD:1582590 NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058
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 chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MMP9 matrix metallopeptidase 9 susceptibility
treatment
ISO mRNA:increased expression:blood vessel
mRNA, protein:increased expression:artery
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 chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G NCF1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19381132 Ensembl chr 7:81,917,167...81,932,589 JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:21321533 RGD:5131897 NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005
JBrowse link
G NOS3 nitric oxide synthase 3 ISO RGD PMID:21321533 RGD:5131897 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr 4:80,295,243...80,365,271
Ensembl chr 4:91,019,734...91,086,775
JBrowse link
G PLAU plasminogen activator, urokinase ISO RGD PMID:21786025 RGD:6483795 NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:17569872 RGD:2290352 NCBI chr  X:40,018,190...40,022,636
Ensembl chr  X:47,914,906...47,919,419
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO mRNA:increased expression:blood vessel RGD PMID:17569872 RGD:2290352 NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:24628611 RGD:10450592 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G VCAN versican ISO DNA:SNP: :rs173686 (human) RGD PMID:16917090 RGD:1598495 NCBI chr 5:31,699,278...31,810,169
Ensembl chr 5:32,019,709...32,130,351
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 chr13:33,442,480...33,472,259
Ensembl chr13:52,301,206...52,330,504
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12821
    disease of anatomical entity 12353
      cardiovascular system disease 3269
        vascular disease 2356
          Aneurysm 146
            intracranial aneurysm 27
              intracranial berry aneurysm + 1
Path 2
Term Annotations click to browse term
  disease 12821
    disease of anatomical entity 12353
      nervous system disease 10089
        central nervous system disease 8521
          brain disease 7881
            cerebrovascular disease 764
              intracranial arterial disease 246
                cerebral arterial disease 195
                  intracranial aneurysm 27
                    intracranial berry aneurysm + 1
paths to the root