Disease Term Disease ID Gene Symbol References
Salaam Seizures C1527366 CACNA1C
CRH 11341487
MTOR
GRIK2
GRIN2A
HNMT
HSD17B4 16919904
NDST1
KCNQ2
PIGC
POMC 6254450, 1965992, 2551692, 2983143, 17287597, 6107850, 2853496, 8381257, 1656808, 10908253, 11341487, 19039989, 1324751, 20078871, 6143199, 1327015, 8980841, 2554740, 6259007, 8928979
CLIP1
SARS1
SCN8A
ST3GAL3
SMARCA2
STXBP1
TSC1 18345974
TSC2 18345974
SLC35A2 30817854
EZR
TUSC3
PRSS12
CRADD
AIMP1
MED23
TECR
WARS2
MTHFS
KDM5B
MAN1B1
ZNF292
TNIK
WASHC4
FRRS1L
SETBP1
PHGDH
DCPS
ANKRD11
PSAT1
SLC45A1
CRBN
RSRC1
UPB1 18853477
CC2D1A
NSUN2
LINS1
FMN2
C12orf4
MBOAT7
FBXO31
EHMT1
ZC3H14
PGAP1
EDC3
LMAN2L
MED25
TRAPPC9
METTL23
B3GALNT2
RNU4ATAC
ST20-MTHFS