Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multifocal epileptiform discharges
CUI: C4021219
Disease: Multifocal epileptiform discharges
0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019