Inborn errors of metabolism
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Inborn Errors of Metabolism | C0025521 | CES1 | 18485328 |
| DHFR | 21310276, 21310277 | ||
| DIO1 | 17105838 | ||
| ITPA | 12384777, 20547162 | ||
| LDHB | 2334429 | ||
| LEPR | 17229951 | ||
| MMUT | 19427250 | ||
| MYO5B | 18724368 | ||
| PLA2G4A | 18451993 | ||
| ABCD4 | 22922874 | ||
| SLC2A1 | 23452774 | ||
| SERPINA7 | 2155256 | ||
| TPI1 | 2876430, 8503454 | ||
| PLA2G7 | 8675689 | ||
| SELENBP1 | 29255262 | ||
| ADAMTSL2 | 18677313 | ||
| AGXT2 | 21572414 |