Genetic deletion of CYP2R1 resulted in severe symptoms of vitamin D deficiency in mice, including hypocalcemia, hyperphosphatemia, and osteomalacia (Roizen et al., 2018), and a multicenter genetic association study revealed that a few CYP2R1 genetic polymorphisms were correlated with serum 25(OH)D3 level to varying degrees (Wang et al., 2010). The gene discussed is CYP2R1; the disease is hyperphosphatemia.