Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 CausalMutation disease CLINVAR SCN2A mutations appear specific for BFNIS; the disorder can now be strongly suspected clinically and the families can be given an excellent prognosis. 15048894 2004
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 GeneticVariation disease BEFREE SCN2A mutations appear specific for BFNIS; the disorder can now be strongly suspected clinically and the families can be given an excellent prognosis. 15048894 2004
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 GeneticVariation disease UNIPROT SCN2A mutations appear specific for BFNIS; the disorder can now be strongly suspected clinically and the families can be given an excellent prognosis. 15048894 2004
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 CausalMutation disease CLINVAR A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 29186148 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 GeneticVariation disease UNIPROT A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. 11371648 2001
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 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 		0.660 GeneticVariation disease UNIPROT A novel SCN2A mutation in family with benign familial infantile seizures. 16417554 2006
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.310 Biomarker disease CTD_human Benign familial neonatal convulsions: novel mutation in a newborn. 19380078 2009
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 CausalMutation disease CLINVAR Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 23935176 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 CausalMutation disease CLINVAR De novo genic mutations among a Chinese autism spectrum disorder cohort. 27824329 2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 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 		0.660 CausalMutation disease CLINVAR De novo R853Q mutation of SCN2A gene and West syndrome. 25772804 2015
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 GeneticVariation disease UNIPROT Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy. 29844171 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 GeneticVariation disease UNIPROT Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures. 17021166 2006
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 Biomarker disease GENOMICS_ENGLAND 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 		0.660 GeneticVariation disease UNIPROT Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755 2015
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 GeneticVariation disease CLINVAR Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. 27781031 2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 CausalMutation disease CLINVAR Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. 29215089 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 CausalMutation disease CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 GeneticVariation disease CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 GeneticVariation disease CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 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: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.310 Biomarker disease BEFREE In BFNIS two genes are involved (KCNQ2, six families; SCN2A, two families). 23360469 2013
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 CausalMutation disease CLINVAR Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine. 27867041 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.660 GeneticVariation disease UNIPROT Missense mutations in SCN2A, encoding the brain sodium channel NaV 1.2, have been described in benign familial neonatal-infantile seizures (BFNIS), a self-limiting disorder, whereas several SCN2A de novo nonsense mutations have been found in patients with more severe phenotypes including epileptic encephalopathy. 23758435 2013