Variations in ABCC12 are linked to breast cancer, liver hepatocellular carcinoma (Meng et al., 2022), bile duct paucity, cholestatic liver disease (Pham et al., 2021), and may also affect spermatid development and sperm function (Ono et al., 2007). The gene discussed is ABCC12; the disease is Cholestatic liver disease.