Thalassemia
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Thalassemia Minor | C0085578 | CAD | 38827 |
| DHODH | 38827 | ||
| EPO | 16225658 | ||
| HBA2 | 17292142 | ||
| HBB | 16755567, 88735, 6270663, 6280057, 23975182, 3021607 | ||
| LCN2 | 16755567 | ||
| TFR2 | 16755567 | ||
| TFRC | 16755567 | ||
| UMPS | 38827 | ||
| CACNA1H | 31542421 | ||
| HAMP | 16755567 | ||
| HBB-LCR | |||
| Thalassemia Intermedia | C0271979 | CAD | 38827 |
| DHODH | 38827 | ||
| EPO | 16225658 | ||
| HBA2 | 17292142 | ||
| HBB | 6280057, 16755567, 3021607, 6270663, 23975182, 88735 | ||
| LCN2 | 16755567 | ||
| TFR2 | 16755567 | ||
| TFRC | 16755567 | ||
| UMPS | 38827 | ||
| CACNA1H | 31542421 | ||
| HAMP | 16755567 | ||
| HBB-LCR | |||
| Hemoglobin E/beta thalassemia disease | C0472777 | HBB | 21886666 |