Disease Term Disease ID Gene Symbol References
CHARGE Syndrome C0265354, 138 SEMA3E 12144540, 15235037, 25985275
CHD7 16763960, 15300250, 20624498, 21158681, 20884005, 26663670, 29255276, 26538304, 20130577, 25077900, 18445044, 27061523, 17334657, 26544072, 25119037, 25472840, 22033296, 22461308, 17661815, 22462537, 19021638, 21931733, 20052490, 18074359, 21554267, 16400610, 20186815, 18073582, 26551301, 16615981, 21532573, 23024289, 16155193, 25818041, 20453063, 30828794, 17149726
Familial CHARGE Syndrome C2936502 SEMA3E
CHD7 21532573, 16615981