| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism | PNPLA6 | disease | C1859093 | CausalMutation | 0.75 | disgenet |
| Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism | PNPLA6 | disease | C1859093 | GeneticVariation | 0.75 | disgenet |
| Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism | PNPLA6 | disease | C1859093 | GermlineCausalMutation | 0.75 | disgenet |
| Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism | PNPLA6 | disease | C1859093 | Biomarker | 0.75 | disgenet |
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