| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Rhegmatogenous Retinal Detachment, Autosomal Dominant | COL2A1 | disease | C1836081 | GeneticVariation | 0.41 | orphanet , disgenet |
| Rhegmatogenous Retinal Detachment, Autosomal Dominant | COL2A1 | disease | C1836081 | CausalMutation | 0.41 | orphanet , disgenet |
| Rhegmatogenous Retinal Detachment, Autosomal Dominant | COL2A1 | disease | C1836081 | GermlineCausalMutation | 0.41 | orphanet , disgenet |
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