Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Early infantile epileptic encephalopathy with suppression bursts
0.300 Biomarker disease CLINGEN SCN1A gain of function in early infantile encephalopathy. 30779207 2019
Early infantile epileptic encephalopathy with suppression bursts
0.300 Biomarker disease CLINGEN Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. 28794249 2017