| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Infantile onset spinocerebellar ataxia | TWNK | disease | C1849096 | GeneticVariation | 0.77 | orphanet , disgenet |
| Infantile onset spinocerebellar ataxia | TWNK | disease | C1849096 | CausalMutation | 0.77 | orphanet , disgenet |
| Infantile onset spinocerebellar ataxia | TWNK | disease | C1849096 | Biomarker | 0.77 | orphanet , disgenet |
| Infantile onset spinocerebellar ataxia | CHMP1B | disease | C1849096 | GeneticVariation | 0.04 | disgenet |
| Infantile onset spinocerebellar ataxia | SPTBN2 | disease | C1849096 | GeneticVariation | 0.02 | disgenet |
| Infantile onset spinocerebellar ataxia | POLG | disease | C1849096 | GeneticVariation | 0.01 | disgenet |
| Infantile onset spinocerebellar ataxia | ATXN8OS | disease | C1849096 | GeneticVariation | 0.01 | disgenet |
| Infantile onset spinocerebellar ataxia | SLF2 | disease | C1849096 | GeneticVariation | 0.01 | disgenet |
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