Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0159020
Disease: Convulsions in the newborn
Convulsions in the newborn
0.020 Biomarker disease BEFREE Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development. 27153334 2017
CUI: C0159020
Disease: Convulsions in the newborn
Convulsions in the newborn
0.020 GeneticVariation disease BEFREE Recently, microduplication of chromosome 2q24.3 (containing eight genes including SCN2A, SCN3A, and the 3' end of SCN1A) was reported in a family with dominantly inherited neonatal seizures and intellectual disability. 22029951 2012