Leukoencephalopathy with vanishing white matter
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Childhood Ataxia with Central Nervous System Hypomyelinization | C1858991 | RHOA | 31570889 |
| COL4A1 | 20385946 | ||
| CSF1R | 22197934 | ||
| DPYD | 11148247 | ||
| EIF2B1 | 11835386, 15136673, 24357685, 15776425, 25761052, 16807905 | ||
| MTHFR | 15753437 | ||
| MTR | 15753437 | ||
| SCP2 | 16685654 | ||
| SPP1 | 11868353 | ||
| TCN2 | 15753437 | ||
| EIF2B4 | 12707859, 25089094, 15776425, 24357685, 15136673, 11835386, 26043506, 30073106 | ||
| EIF2B3 | 25079571, 19158808, 11835386, 15136673, 28597716, 24357685, 21484434, 25761052 | ||
| EIF2B2 | 15060152, 12707859, 14566705, 15776425, 15136673, 25655951, 27159321, 22729508, 28597716, 22285377, 22678813, 11704758, 24357685, 21484434, 21560189, 18263758, 22430157 | ||
| EIF2B5 | 12325082, 12707859, 15776425, 15060152, 21560189, 24938145, 11704758, 19158808, 24357685, 20975056, 22952606, 21484434, 15136673, 22699478 |