West syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| West Syndrome | C0037769 | KIF1A | |
| CLCN4 | |||
| CRH | 11341487 | ||
| GNAO1 | |||
| GRIN2B | 24272827 | ||
| HSD17B4 | 16919904 | ||
| IFNG | |||
| KCNA1 | |||
| ATP6 | |||
| ND1 | |||
| ND2 | |||
| ND3 | |||
| ND4 | |||
| ND5 | |||
| ND6 | |||
| TRNK | |||
| TRNL1 | |||
| TRNV | |||
| TRNW | |||
| NEUROD2 | |||
| NTRK2 | 29100083 | ||
| PIGA | 24357517 | ||
| POMC | 1327015, 17287597, 10908253, 8980841, 2983143, 6259007, 6107850, 8928979, 6143199, 11341487, 8381257, 19039989, 2551692, 1656808, 1965992, 1324751, 20078871, 6254450, 2853496, 2554740 | ||
| SCN2A | 23935176 | ||
| ST3GAL3 | 23252400 | ||
| SPTAN1 | 22196487, 18065176 | ||
| CDKL5 | 22196487, 18564362 | ||
| STXBP1 | 25497044, 21762454 | ||
| TBCD | 27666374 | ||
| TSC1 | 18345974 | ||
| TSC2 | 18345974 | ||
| SLC35A2 | |||
| AIMP2 | 26795593 | ||
| CASK | |||
| PIGQ | |||
| ZNHIT3 | |||
| MAGI2 | 27932480 | ||
| CNPY3 | 29394991 | ||
| WDR45 | 27030146 | ||
| PNKP | |||
| PLCB1 | 20833646, 22196487 | ||
| HIBCH | |||
| PIGP | |||
| UPB1 | 18853477 | ||
| TUBA8 | |||
| NGLY1 | |||
| GUF1 | 26486472 | ||
| SLC25A22 | |||
| ALG13 | |||
| SLC19A3 | |||
| TRIM8 | |||
| RFT1 | |||
| SIK1 | 25839329 | ||
| ARX | 20506206 | ||
| PHACTR1 | 30256902 |