| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Acromesomelic dysplasia, Maroteaux type | NPR2 | disease | C1864356 | Biomarker | 0.95 | disgenet |
| Acromesomelic dysplasia, Maroteaux type | NPR2 | disease | C1864356 | CausalMutation | 0.95 | disgenet |
| Acromesomelic dysplasia, Maroteaux type | NPR2 | disease | C1864356 | GeneticVariation | 0.95 | disgenet |
| Acromesomelic dysplasia, Maroteaux type | NPR2 | disease | C1864356 | GermlineCausalMutation | 0.95 | disgenet |
| Acromesomelic dysplasia, Maroteaux type | SPAG8 | disease | C1864356 | GeneticVariation | 0.1 | disgenet |
| Acromesomelic dysplasia, Maroteaux type | SPAG8 | disease | C1864356 | CausalMutation | 0.1 | disgenet |
| Acromesomelic dysplasia, Maroteaux type | GDF5 | disease | C1864356 | GeneticVariation | 0.01 | disgenet |
| Acromesomelic dysplasia, Maroteaux type | NPPC | disease | C1864356 | AlteredExpression | 0.01 | disgenet |
| Acromesomelic dysplasia, Maroteaux type | IGF1 | disease | C1864356 | AlteredExpression | 0.01 | disgenet |
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