Notable rare ADEs identified included endometriosis male (n = 7; ROR 13615.84), 5-alpha-reductase deficiency (n = 5; ROR 1620.81), bulbospinal muscular atrophy congenital (n = 6; ROR 402.42) and double-hit lymphoma (n = 5; ROR 243.12). The gene discussed is PSMA5; the disease is bulbospinal muscular atrophy.