| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified | COL5A1 | disease | C0220679 | GermlineCausalMutation | 0.3 | disgenet |
| Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified | COL5A2 | disease | C0220679 | GermlineCausalMutation | 0.3 | disgenet |
| Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified | COL1A1 | disease | C0220679 | GermlineCausalMutation | 0.3 | disgenet |
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