| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Amaurosis congenita of Leber, type 2 | RPE65 | disease | C1859844 | CausalMutation | 0.96 | disgenet |
| Amaurosis congenita of Leber, type 2 | RPE65 | disease | C1859844 | Biomarker | 0.96 | disgenet |
| Amaurosis congenita of Leber, type 2 | RPE65 | disease | C1859844 | GeneticVariation | 0.96 | disgenet |
| Amaurosis congenita of Leber, type 2 | SPHK1 | disease | C1859844 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 2 | PBK | disease | C1859844 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 2 | SYMPK | disease | C1859844 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 2 | CILK1 | disease | C1859844 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 2 | PRDX6 | disease | C1859844 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 2 | RPE | disease | C1859844 | Biomarker | 0.01 | disgenet |
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