| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Ehlers-Danlos syndrome type 6 | PLOD1 | disease | C0268342 | GermlineCausalMutation | 0.77 | orphanet , disgenet |
| Ehlers-Danlos syndrome type 6 | PLOD1 | disease | C0268342 | GeneticVariation | 0.77 | orphanet , disgenet |
| Ehlers-Danlos syndrome type 6 | PLOD1 | disease | C0268342 | CausalMutation | 0.77 | orphanet , disgenet |
| Ehlers-Danlos syndrome type 6 | PLOD1 | disease | C0268342 | Biomarker | 0.77 | orphanet , disgenet |
| Ehlers-Danlos syndrome type 6 | PLOD1 | disease | C0268342 | AlteredExpression | 0.77 | orphanet , disgenet |
| Ehlers-Danlos syndrome type 6 | FKBP14 | disease | C0268342 | Biomarker | 0.3 | disgenet |
| Ehlers-Danlos syndrome type 6 | P3H4 | disease | C0268342 | Biomarker | 0.01 | disgenet |
| Ehlers-Danlos syndrome type 6 | P3H3 | disease | C0268342 | Biomarker | 0.01 | disgenet |
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