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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H01270 | Familial hypobetalipoproteinemia | ... of plasma apolipoprotein B and LDL cholesterol. Mutations in the gene encoding apolipoprotein B (APOB) have been found in FHBL. It has been identified that mutations in ANGPTL3 also cause this disease. | Inherited metabolic disorder |
(FHBL1) APOB [HSA:338] [KO:K14462] (FHBL2) ANGPTL3 [HSA:27329] [KO:K22288] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |