Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease CLINVAR
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 81609
Gene Symbol: SNX27
SNX27 		0.100 CausalMutation disease CLINVAR
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." 26096185 2015
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." 26096185 2015
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. 16122630 2005
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Acute encephalopathy in children with Dravet syndrome. 22092154 2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report. 20491869 2010
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report. 20491869 2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene. 21371021 2011
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene. 21371021 2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. 20431604 2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. 20431604 2010
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. 20431604 2010
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 Biomarker disease MGD Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission. 22914087 2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. 15087100 2004
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. 18413471 2008
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. 11359211 2001
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. 11359211 2001
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. 11359211 2001
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 GeneticVariation disease UNIPROT De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. 12754708 2003
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.800 CausalMutation disease CLINVAR De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. 12754708 2003
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. 12754708 2003