familial hypobetalipoproteinemia Gene Set

Dataset GAD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). (Human Disease Ontology, DOID_1386)
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1 genes associated with the disease familial hypobetalipoproteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
APOB apolipoprotein B