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 		0.700 GeneticVariation disease UNIPROT Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene. 24710820 2014
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 24463883 2014
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT 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 		0.700 GeneticVariation disease UNIPROT Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 23935176 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease CLINVAR Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 23935176 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 23662938 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 CausalMutation disease CLINVAR Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 23935176 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings. 23550958 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy. 23988467 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 CausalMutation disease CLINVAR Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T. 22677033 2012
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492 2012
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. 20956790 2010
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. 19786696 2009
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 CausalMutation disease CLINVAR De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. 19786696 2009
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 GeneticVariation disease UNIPROT Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. 19783390 2009
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 CausalMutation disease CLINVAR Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 15048894 2004
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 Biomarker disease GENOMICS_ENGLAND A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. 15028761 2004
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.700 Biomarker disease CTD_human