Disease: Movement Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917995
rs121917995
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Structure and function of voltage-gated sodium channels at atomic resolution. 24097157 2014
dbSNP: rs121917995
rs121917995
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964 2014
dbSNP: rs1553540213
rs1553540213
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964 2014
dbSNP: rs1553540213
rs1553540213
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Structure and function of voltage-gated sodium channels at atomic resolution. 24097157 2014
dbSNP: rs121917995
rs121917995
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. 22719002 2012
dbSNP: rs121917995
rs121917995
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Progressive gait deterioration in adolescents with Dravet syndrome. 22409937 2012
dbSNP: rs1553540213
rs1553540213
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Progressive gait deterioration in adolescents with Dravet syndrome. 22409937 2012
dbSNP: rs1553540213
rs1553540213
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. 22719002 2012
dbSNP: rs121917995
rs121917995
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. 21463290 2011
dbSNP: rs121917995
rs121917995
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271 2011
dbSNP: rs121917995
rs121917995
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. 21269283 2011
dbSNP: rs1553540213
rs1553540213
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271 2011
dbSNP: rs1553540213
rs1553540213
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. 21269283 2011
dbSNP: rs1553540213
rs1553540213
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. 21463290 2011
dbSNP: rs121917995
rs121917995
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Timing of de novo mutagenesis--a twin study of sodium-channel mutations. 20879882 2010
dbSNP: rs1553540213
rs1553540213
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Timing of de novo mutagenesis--a twin study of sodium-channel mutations. 20879882 2010
dbSNP: rs121917995
rs121917995
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999 2009
dbSNP: rs121917995
rs121917995
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. 19400878 2009
dbSNP: rs1553540213
rs1553540213
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. 19400878 2009
dbSNP: rs1553540213
rs1553540213
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999 2009
dbSNP: rs121917995
rs121917995
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. 18413471 2008
dbSNP: rs1553540213
rs1553540213
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. 18413471 2008
dbSNP: rs121917995
rs121917995
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 17561957 2007
dbSNP: rs121917995
rs121917995
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
dbSNP: rs1553540213
rs1553540213
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007