| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Rigid spine syndrome | SELENON | disease | C0410180 | GeneticVariation | 1 | orphanet , disgenet |
| Rigid spine syndrome | SELENON | disease | C0410180 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Rigid spine syndrome | SELENON | disease | C0410180 | Biomarker | 1 | orphanet , disgenet |
| Rigid spine syndrome | SELENON | disease | C0410180 | CausalMutation | 1 | orphanet , disgenet |
| Rigid spine syndrome | ACTA1 | disease | C0410180 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Rigid spine syndrome | FHL1 | disease | C0410180 | Biomarker | 0.03 | disgenet |
| Rigid spine syndrome | FHL1 | disease | C0410180 | GeneticVariation | 0.03 | disgenet |
| Rigid spine syndrome | WASHC5 | disease | C0410180 | GeneticVariation | 0.02 | disgenet |
| Rigid spine syndrome | FKTN | disease | C0410180 | Biomarker | 0.01 | disgenet |
| Rigid spine syndrome | BAG3 | disease | C0410180 | GeneticVariation | 0.01 | disgenet |
| Rigid spine syndrome | CCDC22 | disease | C0410180 | GeneticVariation | 0.01 | disgenet |
| Rigid spine syndrome | DMD | disease | C0410180 | Biomarker | 0.01 | disgenet |
| Rigid spine syndrome | LMNA | disease | C0410180 | GeneticVariation | 0.01 | disgenet |
| Rigid spine syndrome | EMD | disease | C0410180 | AlteredExpression | 0.01 | disgenet |
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