Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751360
Disease: Becker Generalized Myotonia
Becker Generalized Myotonia
0.300 Biomarker disease CTD_human Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. 1316765 1992