Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 GeneticVariation disease BEFREE This case report of autosomal recessive Myotonia congenita caused by a novel compound heterozygous mutation expands the genotypic spectrum of CLCN1 gene. 30243293 2018
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 CausalMutation disease CLINVAR Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature. 27415035 2017
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 CausalMutation disease CLINVAR Electrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features. 28706458 2017
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 CausalMutation disease CLINVAR Targeted Next Generation Sequencing in patients with Myotonia Congenita. 28427807 2017
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 CausalMutation disease CLINVAR Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions. 27614575 2016
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 CausalMutation disease CLINVAR Identification of novel mutations of the CLCN1 gene for myotonia congenital in China. 27118449 2016
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 GeneticVariation disease UNIPROT Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients. 26510092 2016
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 CausalMutation disease CLINVAR Rare variants in known and novel candidate genes predisposing to statin-associated myopathy. 27296017 2016
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 CausalMutation disease CLINVAR Regulation of CLC-1 chloride channel biosynthesis by FKBP8 and Hsp90β. 27580824 2016
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 CausalMutation disease CLINVAR Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies. 27142102 2016
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 GeneticVariation disease BEFREE We report the medical histories and personal attitudes of 5 unrelated German patients, 2 following autosomal recessive inheritance (case 1; most likely and case 2; confirmed Becker disease) and 3 following autosomal dominant inheritance (case 3; CLCN1 mutation, cases 4-5; SCN4A mutations), who delivered a total of 9 children. 27300293 2016
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 GeneticVariation disease BEFREE Both recessive (Becker's disease) or dominant (Thomsen's disease) MC are caused by mutations in the CLCN1 gene encoding the voltage-dependent chloride ClC-1 channel, which is quite exclusively expressed in skeletal muscle. 26007199 2015
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 CausalMutation disease CLINVAR ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation. 26096614 2015
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 GeneticVariation disease UNIPROT ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation. 26096614 2015
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 GeneticVariation disease UNIPROT Both recessive (Becker's disease) or dominant (Thomsen's disease) MC are caused by mutations in the CLCN1 gene encoding the voltage-dependent chloride ClC-1 channel, which is quite exclusively expressed in skeletal muscle. 26007199 2015
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 CausalMutation disease CLINVAR The Overlap between Fibromyalgia Syndrome and Myotonia Congenita. 25749817 2015
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 CausalMutation disease CLINVAR Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita. 25065301 2015
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 CausalMutation disease CLINVAR Both recessive (Becker's disease) or dominant (Thomsen's disease) MC are caused by mutations in the CLCN1 gene encoding the voltage-dependent chloride ClC-1 channel, which is quite exclusively expressed in skeletal muscle. 26007199 2015
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 GeneticVariation disease UNIPROT Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations. 26502825 2015
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 CausalMutation disease CLINVAR The Cullin 4A/B-DDB1-Cereblon E3 Ubiquitin Ligase Complex Mediates the Degradation of CLC-1 Chloride Channels. 26021757 2015
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 CausalMutation disease CLINVAR Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations. 26502825 2015
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 GeneticVariation disease CLINVAR Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations. 26502825 2015
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		0.800 CausalMutation disease CLINVAR Imaging alterations in skeletal muscle channelopathies: a study in 15 patients. 27199537 2015