| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Spondylometaphyseal dysplasia, Kozlowski type | TRPV4 | disease | C0265280 | AlteredExpression | 0.76 | disgenet |
| Spondylometaphyseal dysplasia, Kozlowski type | TRPV4 | disease | C0265280 | GeneticVariation | 0.76 | disgenet |
| Spondylometaphyseal dysplasia, Kozlowski type | TRPV4 | disease | C0265280 | CausalMutation | 0.76 | disgenet |
| Spondylometaphyseal dysplasia, Kozlowski type | TRPV4 | disease | C0265280 | Biomarker | 0.76 | disgenet |
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