| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Hereditary Motor And Sensory Neuropathy VI | MFN2 | disease | C0393807 | Biomarker | 0.76 | orphanet , disgenet |
| Hereditary Motor And Sensory Neuropathy VI | MFN2 | disease | C0393807 | CausalMutation | 0.76 | orphanet , disgenet |
| Hereditary Motor And Sensory Neuropathy VI | MFN2 | disease | C0393807 | GeneticVariation | 0.76 | orphanet , disgenet |
| Hereditary Motor And Sensory Neuropathy VI | MFN2 | disease | C0393807 | GermlineCausalMutation | 0.76 | orphanet , disgenet |
| Hereditary Motor And Sensory Neuropathy VI | SLC25A46 | disease | C0393807 | GeneticVariation | 0.51 | orphanet , disgenet |
| Hereditary Motor And Sensory Neuropathy VI | SLC25A46 | disease | C0393807 | GermlineCausalMutation | 0.51 | orphanet , disgenet |
| Hereditary Motor And Sensory Neuropathy VI | SLC25A46 | disease | C0393807 | Biomarker | 0.51 | orphanet , disgenet |
| Hereditary Motor And Sensory Neuropathy VI | KIF1B | disease | C0393807 | GeneticVariation | 0.02 | disgenet |
| Hereditary Motor And Sensory Neuropathy VI | SPG7 | disease | C0393807 | GeneticVariation | 0.01 | disgenet |
| Hereditary Motor And Sensory Neuropathy VI | FDXR | disease | C0393807 | GeneticVariation | 0.01 | disgenet |
| Hereditary Motor And Sensory Neuropathy VI | TIMM8A | disease | C0393807 | GeneticVariation | 0.01 | disgenet |
| Hereditary Motor And Sensory Neuropathy VI | FXN | disease | C0393807 | GeneticVariation | 0.01 | disgenet |
| Hereditary Motor And Sensory Neuropathy VI | PDK3 | NA | C0393807 | NA | NA | orphanet |
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