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 CausalMutation group CLINVAR Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 17561957 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 CausalMutation 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 SCN1A mutations and epilepsy. 15880351 2005
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 SCN1A mutations and epilepsy. 15880351 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 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 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 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 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 Biomarker group HPO