| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Metatropic dwarfism | TRPV4 | disease | C0265281 | Biomarker | 0.8 | orphanet , disgenet |
| Metatropic dwarfism | TRPV4 | disease | C0265281 | GeneticVariation | 0.8 | orphanet , disgenet |
| Metatropic dwarfism | TRPV4 | disease | C0265281 | CausalMutation | 0.8 | orphanet , disgenet |
| Metatropic dwarfism | TRPV4 | disease | C0265281 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
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