Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA | C4540434 | MTHFD1 | Causal Pathogenic evidence from ClinVar | 21813566, 25633902, 27707659 | ClinVar |