Disease Term Disease ID Gene Symbol References
Becker Generalized Myotonia C0751360 CLCN1 27614575, 23152584, 12390967, 19697366, 22521272, 1379744, 9566422, 10665666, 27118449, 18035046, 11840191, 27415035, 21221019, 26510092, 7951215, 28706458, 23739125, 18337730, 17932099, 26096614, 9736777, 11408615, 27296017, 18337100, 17097617, 25036107, 26007199, 15311340, 22649220, 27580824, 25438602, 22094069, 25749817, 23516313, 12661046, 23097607, 7874130, 10215406, 7951242, 24530047, 22921319, 22407275, 25065301, 22197187, 10644771, 21387378, 26502825, 26633545, 27142102, 17654559, 10051520, 9158157, 10430417, 17990293, 24349310, 8845168, 20399394, 10962018, 10737121, 12456818, 24304580, 11113225, 8112288, 28427807, 22346025, 22995991, 26021757, 24452722, 24037712, 7981750, 23225051, 8857733, 8533761, 7981681, 22641783, 23893571, 15162127, 7581380, 19949657, 23113340, 23810313, 10690989, 24515601, 23424641, 18220014, 20181190, 21204798, 23933576, 9122265, 8571958, 9040760, 27199537, 21045501
SCN4A 1316765
Generalized Myotonia of Thomsen C2936781 CLCN1 27580824, 22649220, 17990293, 9158157, 23893571, 23516313, 27118449, 25065301, 17932099, 23113340, 10962018, 21204798, 11840191, 8845168, 25036107, 10644771, 23097607, 21387378, 23152584, 22197187, 12661046, 23225051, 8112288, 24349310, 12390967, 10665666, 25749817, 10690989, 25438602, 24515601, 24452722, 7981750, 22407275, 7581380, 9122265, 24037712, 21221019, 22094069, 24304580, 19949657, 27614575, 18035046, 7951215, 17097617, 28427807, 18337730, 19697366, 15162127, 15311340, 23424641, 21045501, 22921319, 26502825, 10430417, 27415035, 23739125, 1379744, 9566422, 27653901, 26096614, 27666773, 24530047, 17654559, 23810313, 28706458, 8857733, 9736777, 12456818, 27199537, 26633545, 18337100, 22521272, 20399394, 27142102, 27296017, 9040760, 26021757, 10737121, 23933576, 8533761, 26007199, 22346025, 11408615, 18220014, 20181190, 10051520, 7951242, 22995991, 7874130
SCN4A 1316765