Disease Term Disease ID Gene Symbol References
SHORT syndrome C0878684, 3163 PIK3R1 25488983, 28632845, 23810379, 27766312, 11062485, 23810378, 26974159, 23810382, 25133428, 23980586, 26633545, 24886349, 22351933, 26529633, 16847462, 25326637