| Dataset | DISEASES Curated Gene-Disease Association Evidence Scores 2025 |
| 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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4 genes involed in the disease Abetalipoproteinemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
