rs80356702, CLCN1

N. diseases: 9
Disease: Becker Generalized Myotonia ×
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 CausalMutation CLINVAR The Overlap between Fibromyalgia Syndrome and Myotonia Congenita. 25749817 2015
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 CausalMutation CLINVAR Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia. 10737121 1998
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 CausalMutation CLINVAR Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel. 8845168 1995
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 CausalMutation CLINVAR Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. 8533761 1995