|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia. (Orphanet Rare Disease Ontology, Orphanet_199354)|
|Downloads & Tools|
1 genes associated with the Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|HTRA1||HtrA serine peptidase 1|