Myotonia congenita
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Myotonia Congenita | C0027127 | CLCN1 | 24349310, 10430417, 18807109, 17932099, 11408615, 22649220, 21387378, 12390967, 20399394, 15786415, 11840191, 15241802, 8571958, 18337100, 23417379, 23516313, 8533761, 9736777, 7581380, 22094069, 9040658, 23152584, 23739125, 24920213, 12661046, 9158157, 11113225, 26036855 |
| SCN4A | 1316765 | ||
| MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE | C4016869 | SCN4A |