Disease Term Disease ID Gene Symbol References
Infantile Spasm C3887898 KIF1A 26486474
CACNA1C
DYNC1H1
MTOR
MLLT1
PTEN
SLC1A4
CDKL5
STXBP1 26865513
TSC2
SLC35A2 30817854
STX7 26395554
WDR45
RALGAPB
IRF2BPL
ALG13
KDM2B
TIMM50
NACC1
SPATA5
LINC02245