Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847

2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625

2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 23662938

2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Acute encephalopathy in children with Dravet syndrome. 22092154

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492

2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. 21864321

2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Genotype-phenotype associations in SCN1A-related epilepsies. 21248271

2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. 19589774

2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy). 20729507

2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. 20431604

2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. 20522430

2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI). 20110217

2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients. 20452746

2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy. 19563458

2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. 19783390

2009
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999

2009
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. 19522081

2009
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features. 18639757

2008
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. 18413471

2008
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258

2007
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation UNIPROT Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 17561957

2007