| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract | ABHD12 | disease | C2675204 | GeneticVariation | 0.97 | disgenet |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract | ABHD12 | disease | C2675204 | GermlineCausalMutation | 0.97 | disgenet |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract | ABHD12 | disease | C2675204 | Biomarker | 0.97 | disgenet |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract | ABHD12 | disease | C2675204 | CausalMutation | 0.97 | disgenet |
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