However, a survey of autosomal dominant inherited phosphatase disease genes in our dataset reveals that only three out of 13 (23%) disease genes (PTPN11, PPP1CB and PPP3CA) would meet this LOEUF criterion, with seven genes scoring 0.26–0.69 and three genes (PPM1D, PTPN22, PTPRQ) obtaining LOEUF scores of >1.0. The gene discussed is PPM1D; the disease is glycogen storage disease VI.