Disease Term Disease ID Gene Symbol References
Generalized myoclonic seizures C4021759 ADSL
ASAH1
ALDH7A1
BTD
BUB1B
CAMK2A
CHD2
DNM1
GABRA1
GABRB3
GABRD
GABRG2
GAMT
GBA
GCK
GLB1
GRN
INS
PDX1
KCNC1
KCNJ11
ATP6
ND1
ND2
ND3
ND4
ND5
ND6
RNR1
TRNF
TRNH
TRNI
TRNK
TRNL1
TRNP
TRNQ
TRNS1
TRNS2
TRNV
TRNW
NDUFA1
PIGA
PLAGL1
PPP3CA
MAPK10
SCN1A
SCN1B
SCN2A
SCN9A
SDHA
SDHB
SDHD
SMS
STAT3
CDKL5
STXBP1
ABCC8
ALDH5A1
EPM2A
DPM2
AP3D1
DNM1L 26604000, 27145208
SLC25A15
CPLX1
AFG3L2
CILK1
CUX2
PHGDH
YARS2 27145208, 26604000
IER3IP1
PCDH12
TRIT1
NDE1
NGLY1
PRDM8
HYMAI
TBC1D24
SLC12A5
PCDH19
HACE1
MBOAT7
CARS2
SLC25A22
DHDDS
LNPK
TRAPPC9
ADGRV1
STX1B
NACC1
EFHC1
NUS1
PRICKLE1
SIK1
KCTD7
ARX
BRAT1
MFSD8
NEXMIF
KCNT2
ZFP57
HCN1
NHLRC1
SAMD12
SDHAF1