|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. (Human Disease Ontology, DOID_13810)|
|Downloads & Tools|
2 genes associated with the Familial hypercholesterolemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.