Familial hypercholesterolemia Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. (Human Disease Ontology, DOID_13810)
External Link http://www.omim.org/entry/143890
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2 genes associated with the Familial hypercholesterolemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
APOB apolipoprotein B
LDLR low density lipoprotein receptor