Disease: Movement Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation group CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation group CLINVAR Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. 16430863 2006
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation group CLINVAR Timing of de novo mutagenesis--a twin study of sodium-channel mutations. 20879882 2010
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation group CLINVAR Timing of de novo mutagenesis--a twin study of sodium-channel mutations. 20879882 2010
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation group CLINVAR SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. 19400878 2009
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation group CLINVAR Structure and function of voltage-gated sodium channels at atomic resolution. 24097157 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation group CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271 2011
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation group CLINVAR Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. 10742094 2000
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation group CLINVAR Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. 21269283 2011
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation group CLINVAR Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. 22719002 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation group CLINVAR Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. 16430863 2006
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation group CLINVAR Severe myoclonic epilepsy in infancy: Dravet syndrome. 15508915 2005
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation group CLINVAR Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. 10742094 2000
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation group CLINVAR Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. 21269283 2011
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation group CLINVAR Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 17561957 2007
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation group CLINVAR Structure and function of voltage-gated sodium channels at atomic resolution. 24097157 2014