| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Basal ganglia disease, biotin-responsive | SLC19A3 | disease | C1843807 | CausalMutation | 1 | orphanet , disgenet |
| Basal ganglia disease, biotin-responsive | SLC19A3 | disease | C1843807 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Basal ganglia disease, biotin-responsive | SLC19A3 | disease | C1843807 | GeneticVariation | 1 | orphanet , disgenet |
| Basal ganglia disease, biotin-responsive | SLC19A3 | disease | C1843807 | AlteredExpression | 1 | orphanet , disgenet |
| Basal ganglia disease, biotin-responsive | SLC19A3 | disease | C1843807 | Biomarker | 1 | orphanet , disgenet |
| Basal ganglia disease, biotin-responsive | TPK1 | disease | C1843807 | GeneticVariation | 0.01 | disgenet |
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