Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 Biomarker group HPO
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 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 Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. 18413471 2008
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 GeneticVariation group CLINVAR Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. 18413471 2008
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 GeneticVariation group CLINVAR De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. 11359211 2001
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 CausalMutation group CLINVAR De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. 11359211 2001
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 GeneticVariation group CLINVAR Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. 21463290 2011
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 CausalMutation group CLINVAR Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. 21463290 2011
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 CausalMutation group CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 GeneticVariation group CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 GeneticVariation group CLINVAR Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. 9126059 1997
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 CausalMutation group CLINVAR Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. 9126059 1997
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 CausalMutation group CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271 2011
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 GeneticVariation 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 Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 17561957 2007
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 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 Biomarker group CTD_human Paroxysmal movement disorders in severe myoclonic epilepsy in infancy. 12907273 2003
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 CausalMutation group CLINVAR Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. 22719002 2012
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 Progressive gait deterioration in adolescents with Dravet syndrome. 22409937 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 GeneticVariation group CLINVAR Progressive gait deterioration in adolescents with Dravet syndrome. 22409937 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.410 GeneticVariation group CLINVAR SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. 19400878 2009