GBA variants cause autosomal recessive Gaucher disease (MIMs: 608013, 230800, 230900, 231000, 231005), but like individuals affected with Gaucher disease, heterozygotes are also at significantly increased risk for Parkinson's disease (MIM: 168600) (Tayebi et al. 2003; Halperin et al. 2006; Alcalay et al. 2014). The gene discussed is GBA1; the disease is Parkinson disease.