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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 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:25316629 RGD:11522723 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO mRNA:increased expression:circle of Willis (rat) RGD PMID:19164781 PMID:25316629 RGD:11522723 RGD:2307000 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO RGD PMID:14739420 RGD:1581199 NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,398
JBrowse link
G COL22A1 collagen type XXII alpha 1 chain susceptibility ISO DNA:SNPs:cds:multiple(human) RGD PMID:30541770 RGD:13831344 NCBI chr 4:4,069,045...4,313,198
Ensembl chr 4:4,069,076...4,313,196
JBrowse link
G CST3 cystatin C ISO mRNA:decreased expression:brain, artery
protein:decreased expression:brain, artery
RGD PMID:18635848 RGD:2306495 NCBI chr17:30,471,056...30,474,486
Ensembl chr17:30,470,855...30,474,590
JBrowse link
G CTSB cathepsin B ISO mRNA, protein:increased expression, increased activity:Circle of Willis (rat)
protein:increased expression:cerebral aneurysm (human)
RGD PMID:18635848 RGD:2306495 NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,034,737
JBrowse link
G CTSS cathepsin S ISO mRNA:increased expression:brain, artery
protein:increased expression:brain, artery
RGD PMID:18635848 RGD:2306495 NCBI chr 4:98,415,273...98,442,952
Ensembl chr 4:98,390,250...98,442,936
JBrowse link
G ENG endoglin ISO RGD PMID:10223461 RGD:1580964 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,306,120...268,343,827
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 2:131,150,665...131,370,241
Ensembl chr 2:131,152,127...131,370,466
JBrowse link
G IL6 interleukin 6 ISO RGD PMID:16648144 RGD:1580488 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G LOC110256000 membrane primary amine oxidase-like ISO protein:decreased expression:cerebral artery RGD PMID:18312104 RGD:2313912 NCBI chr12:19,996,324...20,007,006 JBrowse link
G MMP12 matrix metallopeptidase 12 no_association ISO RGD PMID:11546917 RGD:1582365 NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,085...33,483,679
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO RGD PMID:9724118 RGD:1582590 NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,174,500...76,185,923
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 chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment
susceptibility
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 chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G NCF1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19381132 NCBI chr 3:11,820,367...11,834,394
Ensembl chr 3:11,820,285...11,839,426
JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:21321533 RGD:5131897 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,972
JBrowse link
G NOS3 nitric oxide synthase 3 ISO RGD PMID:21321533 RGD:5131897 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting susceptibility ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Brain aneurysm
RGD
ClinVar
PMID:12842373 PMID:25741868 RGD:1580867 NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel susceptibility ISO DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr 8:131,002,973...131,058,932
Ensembl chr 8:131,005,407...131,058,932
JBrowse link
G PLAU plasminogen activator, urokinase ISO RGD PMID:21786025 RGD:6483795 NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:17569872 RGD:2290352 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,297
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO mRNA:increased expression:blood vessel RGD PMID:17569872 RGD:2290352 NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,835
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:24628611 RGD:10450592 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G VCAN versican ISO DNA:SNP: :rs173686 (human) RGD PMID:16917090 RGD:1598495 NCBI chr 2:91,682,177...91,811,674
Ensembl chr 2:91,358,399...91,811,208
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 chr11:15,668,435...15,698,031
Ensembl chr11:15,667,640...15,697,872
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12693
    disease of anatomical entity 12233
      cardiovascular system disease 3298
        vascular disease 2394
          Aneurysm 149
            intracranial aneurysm 27
              intracranial berry aneurysm + 1
Path 2
Term Annotations click to browse term
  disease 12693
    disease of anatomical entity 12233
      nervous system disease 9973
        central nervous system disease 8428
          brain disease 7783
            cerebrovascular disease 776
              intracranial arterial disease 244
                cerebral arterial disease 194
                  intracranial aneurysm 27
                    intracranial berry aneurysm + 1
paths to the root