Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.700 | GeneticVariation | CLINVAR | ||||||||
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Brain and heart sodium channel subtype mRNA expression in rat cerebral cortex. | 1658783 | 1991 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Developmentally regulated alternative RNA splicing of rat brain sodium channel mRNAs. | 1658739 | 1991 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain. | 1325650 | 1992 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Evolution and diversity of mammalian sodium channel genes. | 10198179 | 1999 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus. | 11245985 | 2001 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Evolutionary convergence of alternative splicing in ion channels. | 15101391 | 2004 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. | 15048894 | 2004 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A. | 15249644 | 2004 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. | 17386050 | 2007 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel. | 17467289 | 2007 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures. | 18479388 | 2008 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Disulfide locking a sodium channel voltage sensor reveals ion pair formation during activation. | 18809926 | 2008 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. | 19786696 | 2009 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. | 20351042 | 2010 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain. | 20006674 | 2010 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. | 20196795 | 2010 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay. | 20346423 | 2010 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Clinical application of exome sequencing in undiagnosed genetic conditions. | 22581936 | 2012 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. | 23020937 | 2012 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Diagnostic exome sequencing in persons with severe intellectual disability. | 23033978 | 2012 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | De novo mutations revealed by whole-exome sequencing are strongly associated with autism. | 22495306 | 2012 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Clinical spectrum of SCN2A mutations. | 22029951 | 2012 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. | 23849776 | 2013 |