| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Costeff optic atrophy syndrome | OPA3 | disease | C0574084 | Biomarker | 0.9 | orphanet , disgenet |
| Costeff optic atrophy syndrome | OPA3 | disease | C0574084 | CausalMutation | 0.9 | orphanet , disgenet |
| Costeff optic atrophy syndrome | OPA3 | disease | C0574084 | GeneticVariation | 0.9 | orphanet , disgenet |
| Costeff optic atrophy syndrome | MICOS13 | disease | C0574084 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Costeff optic atrophy syndrome | DMPK | disease | C0574084 | GeneticVariation | 0.01 | disgenet |
| Costeff optic atrophy syndrome | ATRN | disease | C0574084 | GeneticVariation | 0.01 | disgenet |
| Costeff optic atrophy syndrome | MFN2 | disease | C0574084 | GeneticVariation | 0.01 | disgenet |
| Costeff optic atrophy syndrome | TIMM8A | disease | C0574084 | GeneticVariation | 0.01 | disgenet |
| Costeff optic atrophy syndrome | SPG7 | disease | C0574084 | GeneticVariation | 0.01 | disgenet |
| Costeff optic atrophy syndrome | KIF1B | disease | C0574084 | GeneticVariation | 0.01 | disgenet |
| Costeff optic atrophy syndrome | OPA1 | disease | C0574084 | GeneticVariation | 0.01 | orphanet , disgenet |
| Costeff optic atrophy syndrome | SERAC1 | disease | C0574084 | Biomarker | 0.01 | disgenet |
| Costeff optic atrophy syndrome | TAZ | disease | C0574084 | Biomarker | 0.01 | disgenet |
| Costeff optic atrophy syndrome | FXN | disease | C0574084 | GeneticVariation | 0.01 | disgenet |
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