Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C0424574
Disease: Duration of sleep
Duration of sleep
0.100 GeneticVariation GWASCAT Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates. 30846698

2019

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C0424574
Disease: Duration of sleep
Duration of sleep
0.100 GeneticVariation GWASCAT Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways. 30804565

2019

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation GWASCAT Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. 30531953

2018

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial
0.100 GeneticVariation GWASCAT Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. 30531953

2018

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized
0.100 GeneticVariation GWASCAT Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. 30531953

2018

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.100 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.100 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396

2018

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
0.100 CausalMutation CLINVAR Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. 28708303

2018

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.100 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
0.100 CausalMutation CLINVAR A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 29186148

2017

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
0.100 CausalMutation CLINVAR Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. 28102150

2017

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
0.100 GeneticVariation CLINVAR Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. 28102150

2017

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
0.100 GeneticVariation CLINVAR Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. 28202706

2017

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
0.100 CausalMutation CLINVAR SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome. 28079314

2017

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
0.100 GeneticVariation CLINVAR Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome. 28012175

2017

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
0.100 CausalMutation CLINVAR Audit of use of stiripentol in adults with Dravet syndrome. 27231140

2017

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia
0.100 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli. 27413160

2016

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder. 27504264

2016

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
0.100 CausalMutation CLINVAR Pitfalls in genetic testing: the story of missed SCN1A mutations. 27465585

2016

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
0.100 CausalMutation CLINVAR Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. 27781031

2016

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
0.100 CausalMutation CLINVAR Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. 27781031

2016

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
0.100 CausalMutation CLINVAR Pitfalls in genetic testing: the story of missed SCN1A mutations. 27465585

2016

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
0.100 CausalMutation CLINVAR SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet. 25459969

2015