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 GeneticVariation UNIPROT Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients. 26510092 2016
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 GeneticVariation UNIPROT ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation. 26096614 2015
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 GeneticVariation UNIPROT Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations. 26502825 2015
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 GeneticVariation UNIPROT Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita. 26007199 2015
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 GeneticVariation UNIPROT Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients. 22521272 2012
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 GeneticVariation UNIPROT Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita. 22641783 2012
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 GeneticVariation UNIPROT Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene. 19697366 2010
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 GeneticVariation UNIPROT Decrement of compound muscle action potential is related to mutation type in myotonia congenita. 12661046 2003
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 GeneticVariation UNIPROT "A ""dystrophic"" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene." 11113225 2000
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 GeneticVariation UNIPROT Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation. 10644771 2000
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 GeneticVariation UNIPROT ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. 9736777 1998
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 GeneticVariation UNIPROT Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online. 10215406 1998
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 GeneticVariation UNIPROT Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance. 9566422 1998
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 GeneticVariation UNIPROT Novel muscle chloride channel mutations and their effects on heterozygous carriers. 8571958 1996
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 GeneticVariation UNIPROT Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. 8533761 1995
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 GeneticVariation UNIPROT 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 GeneticVariation UNIPROT Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. 7951242 1994
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 GeneticVariation UNIPROT Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. 7874130 1994
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 GeneticVariation UNIPROT Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion. 7981681 1994
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
0.700 GeneticVariation UNIPROT The skeletal muscle chloride channel in dominant and recessive human myotonia. 1379744 1992