Congenital myotonia

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