| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Spondylometaphyseal dysplasia, 'corner fracture' type | FN1 | disease | C0432221 | GermlineCausalMutation | 0.7 | disgenet |
| Spondylometaphyseal dysplasia, 'corner fracture' type | FN1 | disease | C0432221 | GeneticVariation | 0.7 | disgenet |
| Spondylometaphyseal dysplasia, 'corner fracture' type | FN1 | disease | C0432221 | Biomarker | 0.7 | disgenet |
| Spondylometaphyseal dysplasia, 'corner fracture' type | FN1 | disease | C0432221 | CausalMutation | 0.7 | disgenet |
| Spondylometaphyseal dysplasia, 'corner fracture' type | COL2A1 | disease | C0432221 | GeneticVariation | 0.3 | disgenet |
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