Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Disulfide locking a sodium channel voltage sensor reveals ion pair formation during activation. 18809926

2008
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373

2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Clinical application of exome sequencing in undiagnosed genetic conditions. 22581936

2012
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Clinical spectrum of SCN2A mutations. 22029951

2012
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures. 28256214

2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain. 1325650

1992
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Developmentally regulated alternative RNA splicing of rat brain sodium channel mRNAs. 1658739

1991
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities. 24579881

2014
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A. 15249644

2004
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel. 17467289

2007
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Brain and heart sodium channel subtype mRNA expression in rat cerebral cortex. 1658783

1991
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. 26291284

2015
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. 20196795

2010
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 15048894

2004
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism. 23827426

2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Evolution and diversity of mammalian sodium channel genes. 10198179

1999
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 23935176

2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. 26645390

2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR

Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Evolutionary convergence of alternative splicing in ion channels. 15101391

2004