Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
0.010 GeneticVariation disease BEFREE De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. 30323019 2019