Thiamine responsive megaloblastic anemia syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Thiamine responsive megaloblastic anemia syndrome | C0342287 | SLC19A2 | Causal Pathogenic evidence from ClinVar | 10391221, 10874303, 12065289, 12435857, 17132746, 17463047, 17659067, 19643445, 26549656, 26839896, 27604308 | ClinVar |
| Thiamine-responsive megaloblastic anemia | C0271972 | SLC19A2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |