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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:CADASIL
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Accession:DOID:13945 term browser browse the term
Definition:A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment. (DO)
Synonyms:exact_synonym: CADASILM;   CASIL;   cerebral arteriopathy with subcortical infarcts and leukoencephalopathy;   cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;   hereditary dementia, multi infarct type;   hereditary multi-infarct dementia
 primary_id: MESH:D046589
 xref: GARD:1049;   ICD10CM:I67.850;   NCI:C84606;   OMIM:PS125310;   ORDO:136
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
CADASIL term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: CASIL ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 More... NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: CASIL ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 More... NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G HTRA1 HtrA serine peptidase 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
JBrowse link
G NOTCH3 notch receptor 3 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
ClinVar Annotator: match by term: CASIL
ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type
CTD
ClinVar
PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 PMID:10854111 More... NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP ClinVar Annotator: match by term: CASIL ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 More... NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
CADASIL 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130063807 ATAC-STARR-seq lymphoblastoid silent region 10267 IAGP ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:15,177,645...15,177,814 JBrowse link
G MIR6795 microRNA 6795 IAGP ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1
ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
ClinVar PMID:25741868 PMID:28492532 NCBI chr19:15,179,283...15,179,350
Ensembl chr19:15,179,283...15,179,350
JBrowse link
G NOTCH3 notch receptor 3 IAGP
ISS
ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1
ClinVar Annotator: match by term: Recurrent subcortical infarcts
OMIM:125310
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1
OMIM
ClinVar
MouseDO
PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 More... NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
CADASIL2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMS2 age-related maculopathy susceptibility 2 IAGP ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ClinVar PMID:25741868 NCBI chr10:122,454,653...122,457,352
Ensembl chr10:122,454,653...122,457,352
JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
ClinVar Annotator: match by term: HTRA1-related autosomal dominant cerebral small vessel disease
ClinVar
OMIM
PMID:19387015 PMID:25712943 PMID:25741868 PMID:26063658 PMID:26467025 More... NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
JBrowse link
G NOTCH3 notch receptor 3 IAGP ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 ClinVar PMID:28492532 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMS2 age-related maculopathy susceptibility 2 IAGP ClinVar Annotator: match by term: CARASIL syndrome ClinVar PMID:18316707 PMID:20437615 PMID:26467025 PMID:28492532 NCBI chr10:122,454,653...122,457,352
Ensembl chr10:122,454,653...122,457,352
JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP
EXP
ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
ClinVar Annotator: match by term: CARASIL syndrome
ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease
ClinVar
CTD
OMIM
PMID:11889251 PMID:18316707 PMID:19387015 PMID:20437615 PMID:21115960 More... NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40721
    Diseases of the Aged 1419
      dementia 929
        vascular dementia 80
          CADASIL 8
            CADASIL 1 3
            CADASIL2 3
            Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 2
            Familial Vascular Leukoencephalopathy 0
Path 2
Term Annotations click to browse term
  disease 40721
    disease of anatomical entity 32019
      nervous system disease 25893
        central nervous system disease 23130
          brain disease 21572
            disease of mental health 16903
              cognitive disorder 5461
                dementia 929
                  vascular dementia 80
                    CADASIL 8
                      CADASIL 1 3
                      CADASIL2 3
                      Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 2
                      Familial Vascular Leukoencephalopathy 0
paths to the root