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 Biomarker group HPO
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 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 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 Biomarker group CTD_human Paroxysmal movement disorders in severe myoclonic epilepsy in infancy. 12907273 2003
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 GeneticVariation group CLINVAR Severe myoclonic epilepsy in infancy: Dravet syndrome. 15508915 2005
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 SCN1A mutations and epilepsy. 15880351 2005
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation group CLINVAR SCN1A mutations and epilepsy. 15880351 2005
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 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 The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
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 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 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 Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999 2009
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 CausalMutation group CLINVAR Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999 2009
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
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 Timing of de novo mutagenesis--a twin study of sodium-channel mutations. 20879882 2010