Disease-gene associations mined from literature

Human genes for sitosterolemia

Sitosterolemia [DOID:0090019]

An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21.

Synonyms:  sitosterolemia,  DOID:0090019,  sitosterolemias,  phytosterolemia,  phytosterolemias