hyperbetalipoproteinemia Gene Set

Dataset HPO Gene-Disease 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://compbio.charite.de/hpoweb/showterm?id=HP:0003141
Similar Terms
Downloads & Tools

Genes

3 genes associated with the hyperbetalipoproteinemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
LCAT lecithin-cholesterol acyltransferase
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
TTPA tocopherol (alpha) transfer protein