Myotonia congenita

Disease Term Disease ID Gene Symbol Classification References Source
Myotonia Congenita C0027127 CLCN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7581380, 8533761, 8571958, 9040658, 9158157, 9736777, 10430417, 11113225, 11408615, 11840191, 12390967, 12661046, 15241802, 15786415, 17932099, 18337100, 18807109, 20399394, 21387378, 22094069, 22649220, 23152584, 23417379, 23516313, 23739125, 24349310, 24920213, 26036855 -
SCN4A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1316765 -
MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE C4016869 SCN4A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -