| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Structure and function of voltage-gated sodium channels at atomic resolution. | 24097157 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Dravet syndrome--from epileptic encephalopathy to channelopathy. | 24836964 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. | 22719002 | 2012 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Progressive gait deterioration in adolescents with Dravet syndrome. | 22409937 | 2012 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. | 21269283 | 2011 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. | 21463290 | 2011 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Genotype-phenotype associations in SCN1A-related epilepsies. | 21248271 | 2011 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Timing of de novo mutagenesis--a twin study of sodium-channel mutations. | 20879882 | 2010 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. | 19400878 | 2009 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. | 18930999 | 2009 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. | 18413471 | 2008 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. | 17561957 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The spectrum of SCN1A-related infantile epileptic encephalopathies. | 17347258 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. | 16430863 | 2006 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | SCN1A mutations and epilepsy. | 15880351 | 2005 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Severe myoclonic epilepsy in infancy: Dravet syndrome. | 15508915 | 2005 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. | 11359211 | 2001 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. | 10742094 | 2000 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. | 9126059 | 1997 |