Disease Term Disease ID Gene Symbol Classification References Source
MYOCLONUS, INTRACTABLE, NEONATAL C4310658 KIF5A Causal Pathogenic evidence from ClinVar 27414745, 29903433 ClinVar
MYOCLONUS, FAMILIAL CORTICAL C3539916 NOL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22926851, 25138476 -