Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies. 26036855

2016
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR Novel N-terminal truncating CLCN1 mutation in severe Becker disease. 24920213

2014
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. 24349310

2013
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR Double trouble in a patient with myotonia. 23417379

2013
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR Prevalence study of genetically defined skeletal muscle channelopathies in England. 23516313

2013
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. 23739125

2013
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1. 22649220

2012
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene. 22094069

2012
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics. 23152584

2012
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies. 21387378

2011
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. 18337100

2009
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. 18807109

2008
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. 17932099

2007
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR Phenotypic variability in myotonia congenita. 15786415

2005
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression. 15241802

2004
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR Decrement of compound muscle action potential is related to mutation type in myotonia congenita. 12661046

2003
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR Novel CLCN1 mutations with unique clinical and electrophysiological consequences. 12390967

2002
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR Fast and slow gating of CLC-1: differential effects of 2-(4-chlorophenoxy) propionic acid and dominant negative mutations. 11408615

2001
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. 11840191

2001
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR "A ""dystrophic"" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene." 11113225

2000
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR Founder mutations and the high prevalence of myotonia congenita in northern Finland. 10430417

1999
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. 9736777

1998
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR Temperature-sensitive repetitive discharges in paramyotonia congenita. 9040658

1997
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations. 9158157

1997
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.900 CausalMutation CLINVAR Novel muscle chloride channel mutations and their effects on heterozygous carriers. 8571958

1996