Gene: SCN2A ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 GeneticVariation disease 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 		0.100 GeneticVariation disease CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 CausalMutation disease CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 CausalMutation disease 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 		0.100 GeneticVariation disease 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 		0.100 GeneticVariation disease 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 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease 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 		0.100 GeneticVariation disease CLINVAR SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. 26291284 2015
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 CausalMutation disease CLINVAR SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. 26291284 2015
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 CausalMutation disease CLINVAR Genotype phenotype associations across the voltage-gated sodium channel family. 25163687 2014
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 CausalMutation disease 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 		0.100 GeneticVariation disease 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 		0.100 GeneticVariation disease CLINVAR Genotype phenotype associations across the voltage-gated sodium channel family. 25163687 2014
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 CausalMutation disease CLINVAR SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism. 23827426 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 GeneticVariation disease CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 GeneticVariation disease CLINVAR Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 23935176 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 GeneticVariation disease CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 CausalMutation disease CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 GeneticVariation disease CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 CausalMutation disease CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 CausalMutation disease CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 CausalMutation disease CLINVAR Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 23935176 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 GeneticVariation disease CLINVAR SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism. 23827426 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 GeneticVariation disease CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012