| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Kniest dysplasia | COL2A1 | disease | C0265279 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Kniest dysplasia | COL2A1 | disease | C0265279 | GeneticVariation | 0.8 | orphanet , disgenet |
| Kniest dysplasia | COL2A1 | disease | C0265279 | CausalMutation | 0.8 | orphanet , disgenet |
| Kniest dysplasia | COL2A1 | disease | C0265279 | Biomarker | 0.8 | orphanet , disgenet |
| Kniest dysplasia | SEMA3A | disease | C0265279 | Biomarker | 0.01 | disgenet |
| Kniest dysplasia | ZAP70 | disease | C0265279 | GeneticVariation | 0.01 | disgenet |
| Kniest dysplasia | SULT2A1 | disease | C0265279 | GeneticVariation | 0.01 | disgenet |
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