| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Atelosteogenesis type 2 | SLC26A2 | disease | C1850554 | GeneticVariation | 0.78 | orphanet , disgenet |
| Atelosteogenesis type 2 | SLC26A2 | disease | C1850554 | CausalMutation | 0.78 | orphanet , disgenet |
| Atelosteogenesis type 2 | SLC26A2 | disease | C1850554 | Biomarker | 0.78 | orphanet , disgenet |
| Atelosteogenesis type 2 | DOCK11 | disease | C1850554 | GeneticVariation | 0.01 | disgenet |
| Atelosteogenesis type 2 | PARP1 | disease | C1850554 | AlteredExpression | 0.01 | disgenet |
| Atelosteogenesis type 2 | ANXA5 | disease | C1850554 | GeneticVariation | 0.01 | disgenet |
| Atelosteogenesis type 2 | COL11A2 | disease | C1850554 | AlteredExpression | 0.01 | disgenet |
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