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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;   MIM:PS125310;   NCI:C84606;   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 ISO ClinVar Annotator: match by term: CASIL ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 More... NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477 		JBrowse link
G Htra1 HtrA serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CASIL | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type		 CTD
ClinVar		 PMID:3435268 PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 More... NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: CASIL ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 More... NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796 		JBrowse link
CADASIL 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO
ISS		 ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | ClinVar Annotator: match by term: Recurrent subcortical infarcts
OMIM:125310		 OMIM
ClinVar
MouseDO		 PMID:3435268 PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 More... NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
CADASIL2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO 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 OMIM
ClinVar		 PMID:19387015 PMID:25712943 PMID:25741868 PMID:26063658 PMID:26467025 More... NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 ClinVar PMID:28492532 NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		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 Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: CARASIL | ClinVar Annotator: match by term: CARASIL syndrome | ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease | ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease OMIM
ClinVar		 PMID:11889251 PMID:18316707 PMID:19387015 PMID:20437615 PMID:21115960 More... NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease ClinVar PMID:24500651 PMID:27148565 NCBI chr18:27,885,071...27,905,509
Ensembl chr18:27,884,556...27,905,513 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    Diseases of the Aged 1473
      dementia 874
        vascular dementia 75
          CADASIL 5
            CADASIL 1 1
            CADASIL2 2
            Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 2
            Familial Vascular Leukoencephalopathy 0
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        central nervous system disease 12556
          brain disease 11776
            disease of mental health 8368
              cognitive disorder 2306
                dementia 874
                  vascular dementia 75
                    CADASIL 5
                      CADASIL 1 1
                      CADASIL2 2
                      Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 2
                      Familial Vascular Leukoencephalopathy 0
paths to the root