| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Stickler syndrome, type 2 | COL11A1 | disease | C1858084 | GermlineCausalMutation | 0.98 | orphanet , disgenet |
| Stickler syndrome, type 2 | COL11A1 | disease | C1858084 | CausalMutation | 0.98 | orphanet , disgenet |
| Stickler syndrome, type 2 | COL11A1 | disease | C1858084 | GeneticVariation | 0.98 | orphanet , disgenet |
| Stickler syndrome, type 2 | COL11A1 | disease | C1858084 | Biomarker | 0.98 | orphanet , disgenet |
| Stickler syndrome, type 2 | COL11A2 | disease | C1858084 | GeneticVariation | 0.21 | disgenet |
| Stickler syndrome, type 2 | COL11A2 | disease | C1858084 | Biomarker | 0.21 | disgenet |
| Stickler syndrome, type 2 | AMPD2 | disease | C1858084 | GeneticVariation | 0.01 | disgenet |
| Stickler syndrome, type 2 | COL2A1 | disease | C1858084 | GeneticVariation | 0.01 | disgenet |
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