Gene: SCN4A ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR [Screening of genetic mutations in a Chinese pedigree affected with hypokalemic periodic paralysis]. 29419865 2018
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 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: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 GeneticVariation disease CLINVAR A SCN4A mutation causing paramyotonia congenita. 29111379 2017
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A. 27486940 2016
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review. 26944947 2016
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia. 26885337 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 GeneticVariation disease CLINVAR Imaging alterations in skeletal muscle channelopathies: a study in 15 patients. 27199537 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR Whole-Body Muscle MRI in Patients with Hyperkalemic Periodic Paralysis Carrying the SCN4A Mutation T704M: Evidence for Chronic Progressive Myopathy with Selective Muscle Involvement. 26256659 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis. 26252573 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison. 26834636 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR Mutations of SCN4A gene cause different diseases: 2 case reports and literature review. 25839108 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR Phenotypic variability in childhood of skeletal muscle sodium channelopathies. 25724373 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report. 25755818 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR Imaging alterations in skeletal muscle channelopathies: a study in 15 patients. 27199537 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation. 26080010 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients. 25213595 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis. 24682880 2014
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis. 25024265 2014
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR Contractile abnormalities of mouse muscles expressing hyperkalemic periodic paralysis mutant NaV1.4 channels do not correlate with Na+ influx or channel content. 24714718 2014
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia. 25088311 2014
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR [Normokalemic periodic paralysis lasting for two weeks: a severe form of sodium channelopathy with M1592V mutation]. 24943082 2014
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR Focal and abnormally persistent paralysis associated with congenital paramyotonia. 24939454 2014
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm. 25311598 2014
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery. 24549961 2014
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		1.000 CausalMutation disease CLINVAR Gender differences in penetrance and phenotype in hypokalemic periodic paralysis. 23019082 2013