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Entry Name Description Category Pathway Gene
H00155 Familial hypercholesterolemia
Autosomal dominant hypercholesterolaemia
... lipoprotein receptor. Other forms of this disorder include hypercholesterolemia caused by mutation of APOB or PCSK9 gene. This disorder is characterized by severely elevated plasma LDL cholesterol, tuberous and ... Inherited metabolic disease; Cardiovascular disease hsa04976 Bile secretion
hsa04144 Endocytosis
LDLR [HSA:3949] [KO:K12473]
APOB [HSA:338] [KO:K14462]
PCSK9 [HSA:255738] [KO:K13050]
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