Source: INFERRED

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 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 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 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 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 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 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 Genotype phenotype associations across the voltage-gated sodium channel family. 25163687

2014
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 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 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 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 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 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 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 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937

2012
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306

2012
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 Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. 20351042

2010
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay. 20346423

2010
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain. 20006674

2010
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. 19786696

2009
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 Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures. 18479388

2008
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