Six genes (PTPN11, CHD7, CHD4, KMT2A, NOTCH1, ADNP) reached genome wide significance (P ≤ 2.5E-06, Bonferroni correction), and the top two genes were PTPN11 (one-tailed binomial test P ≤ 1.54E-34) and CHD7 (one-tailed binomial test P ≤ 7.56E-26), which are associated with Noonan syndrome (OMIM:163950) and CHARGE syndrome (OMIM:214800). The gene discussed is NOTCH1; the disease is Noonan syndrome.