Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease BEFREE De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure. 31732390 2019
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease BEFREE A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant. 28012096 2017
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease BEFREE Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation. 27164696 2016
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease UNIPROT A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes. 27653901 2016
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease BEFREE New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene. 25735906 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease BEFREE A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis. 22617007 2012
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease BEFREE Mutations in the pore-forming subunit of the skeletal muscle sodium channel (SCN4A) are responsible for hyperkalemic periodic paralysis, paramyotonia congenita and sodium channel myotonia. 22257501 2012
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease UNIPROT New mutation of the Na channel in the severe form of potassium-aggravated myotonia. 19347921 2009
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease UNIPROT Clinical differentiating between sodium-channel myotonia (SCM) and MC is not easy, and it is suggested that a mutational analysis of both SCN4A and CLCN1 is essential for the differential diagnosis of SCM and MC. 20076800 2009
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease UNIPROT Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. 18337100 2009
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease UNIPROT A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia. 19015483 2008
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease UNIPROT Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene. 18203179 2008
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease UNIPROT In the other 11 families comprising 66% of cases (44/66), a new dominant SCN4A mutation in exon 24 (M1476I) was uncovered and segregated with a variable SCM phenotype. 17998485 2007
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease UNIPROT A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene. 17212350 2007
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease BEFREE In the other 11 families comprising 66% of cases (44/66), a new dominant SCN4A mutation in exon 24 (M1476I) was uncovered and segregated with a variable SCM phenotype. 17998485 2007
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease UNIPROT Cold extends electromyography distinction between ion channel mutations causing myotonia. 16786525 2006
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease BEFREE Myotonia permanens is associated with a G1306E mutation in the SCN4A gene. 16832098 2006
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease UNIPROT Myotonia permanens is associated with a G1306E mutation in the SCN4A gene. 16832098 2006
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 Biomarker disease CTD_human Myotonia permanens is associated with a G1306E mutation in the SCN4A gene. 16832098 2006
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 Biomarker disease GENOMICS_ENGLAND Correlating phenotype and genotype in the periodic paralyses. 15534250 2004
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease UNIPROT Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia. 10218481 1999
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease BEFREE Hyperkalaemic periodic paralysis, paramyotonia congenita, and potassium-aggravated myotonia are three autosomal dominant skeletal muscle disorders linked to the SCN4A gene encoding the alpha-subunit of the human voltage-sensitive sodium channel. 10366610 1999
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease UNIPROT A novel muscle sodium channel mutation causes painful congenital myotonia. 9392583 1997
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GeneticVariation disease UNIPROT Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. 8058156 1994
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.790 GermlineCausalMutation disease ORPHANET Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. 8308722 1993