Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.300 Biomarker disease CLINGEN SCN1A gain of function in early infantile encephalopathy. 30779207 2019
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.300 Biomarker disease CLINGEN Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. 28794249 2017