[These are familial hypercholesterolemia (LDL receptor gene: LDLR); familial ligand-defective apoB- 100 (apoB gene: APOB); autosomal recessive hypercholesterolemia (ARH gene); sitosterolemia (ABCG5 or ABCG8 genes) and cholesterol 7alpha-hydroxylase deficiency (CYP7A1 gene).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE