Charge syndrome
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 |