| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Thiamine responsive megaloblastic anemia syndrome | SLC19A2 | disease | C0342287 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Thiamine responsive megaloblastic anemia syndrome | SLC19A2 | disease | C0342287 | GeneticVariation | 1 | orphanet , disgenet |
| Thiamine responsive megaloblastic anemia syndrome | SLC19A2 | disease | C0342287 | CausalMutation | 1 | orphanet , disgenet |
| Thiamine responsive megaloblastic anemia syndrome | SLC19A2 | disease | C0342287 | Biomarker | 1 | orphanet , disgenet |
| Thiamine responsive megaloblastic anemia syndrome | INS | disease | C0342287 | GeneticVariation | 0.01 | disgenet |
| Thiamine responsive megaloblastic anemia syndrome | TKT | disease | C0342287 | Biomarker | 0.01 | disgenet |
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