| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Pontocerebellar Hypoplasia Type 6 | RARS2 | disease | C1969084 | GermlineCausalMutation | 0.79 | orphanet , disgenet |
| Pontocerebellar Hypoplasia Type 6 | RARS2 | disease | C1969084 | Biomarker | 0.79 | orphanet , disgenet |
| Pontocerebellar Hypoplasia Type 6 | RARS2 | disease | C1969084 | CausalMutation | 0.79 | orphanet , disgenet |
| Pontocerebellar Hypoplasia Type 6 | RARS2 | disease | C1969084 | GeneticVariation | 0.79 | orphanet , disgenet |
| Pontocerebellar Hypoplasia Type 6 | RARS1 | disease | C1969084 | GeneticVariation | 0.01 | disgenet |
| Pontocerebellar Hypoplasia Type 6 | TFPI | disease | C1969084 | Biomarker | 0.01 | disgenet |
| Pontocerebellar Hypoplasia Type 6 | DARS2 | disease | C1969084 | AlteredExpression | 0.01 | disgenet |
| Pontocerebellar Hypoplasia Type 6 | DARS1 | disease | C1969084 | AlteredExpression | 0.01 | disgenet |
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