Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:cerebral amyloid angiopathy
go back to main search page
Accession:DOID:9246 term browser browse the term
Definition:An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. (DO)
Synonyms:exact_synonym: Congophilic Angiopathy;   Dutch hereditary cerebral amyloid angiopathy;   cerebral amyloid angiopathies;   congophilic angiopathies;   hereditary cerebral haemorrhage with amyloidosis - Dutch type;   sporadic cerebral amyloid angiopathy
 primary_id: MESH:D016657
 xref: ORDO:85458
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aoc3 amine oxidase, copper containing 3 ISO associated with Alzheimer Disease;protein:increased expression:brain RGD PMID:17393059 RGD:2313919 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Apoa1 apolipoprotein A1 ISO RGD PMID:20739292 RGD:5508213 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:11061249 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21520056 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:21107133 RGD:5148012 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:14595653 RGD:5688166 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Itm2b integral membrane protein 2B ISS MouseDO NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
JBrowse link
G Mme membrane metallo-endopeptidase severity ISO associated with Alzheimer Disease;protein:decreased expression:frontal lobe cortex (human) RGD PMID:17021406 PMID:21382117 RGD:1600811, RGD:13801026 NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
JBrowse link
G Olr1 oxidized low density lipoprotein receptor 1 ISO RGD PMID:16328515 RGD:1580993 NCBI chr 4:162,926,436...162,949,057
Ensembl chr 4:162,926,439...162,948,523
JBrowse link
G Psen1 presenilin 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 6:103,323,014...103,375,088
Ensembl chr 6:103,323,120...103,371,650
JBrowse link
Amyloid Angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31939705 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
APP-related cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT
ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
CTD
ClinVar
OMIM
PMID:1303239 PMID:1679289 PMID:2111584 PMID:8610157 PMID:9754958 More... NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
CST3-related cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis ClinVar PMID:25741868 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G Cst3 cystatin C ISO ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2363674 PMID:2567273 PMID:2900981 PMID:8108423 PMID:18566660 More... NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
JBrowse link
ITM2B-related cerebral amyloid angiopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by OMIM:176500 ClinVar
OMIM
RGD
PMID:10391242 PMID:21610757 PMID:11159188 RGD:1358403 NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
ClinVar Annotator: match by OMIM:117300
OMIM
ClinVar
PMID:5457846 PMID:10781099 PMID:25741868 NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          cerebral amyloid angiopathy 11
            APP-related cerebral amyloid angiopathy 1
            Amyloid Angiopathy 1
            CST3-related cerebral amyloid angiopathy + 3
            ITM2B-related cerebral amyloid angiopathy 1 1
            ITM2B-related cerebral amyloid angiopathy 2 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            cerebrovascular disease 831
              intracranial arterial disease 261
                cerebral arterial disease 207
                  cerebral amyloid angiopathy 11
                    APP-related cerebral amyloid angiopathy 1
                    Amyloid Angiopathy 1
                    CST3-related cerebral amyloid angiopathy + 3
                    ITM2B-related cerebral amyloid angiopathy 1 1
                    ITM2B-related cerebral amyloid angiopathy 2 1
paths to the root