Disease-gene associations mined from literature

Human genes for familial apolipoprotein C-II deficiency

Familial apolipoprotein C-II deficiency [DOID:0111418]

A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in APOC2 on chromosome 19q13.32.

Synonyms:  familial apolipoprotein C-II deficiency,  DOID:0111418,  familial apolipoprotein CII deficiency,  hereditary apolipoprotein C-II deficiency,  familial apolipoprotein C-II deficiencies ...