| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Short rib-polydactyly syndrome, Beemer type | IFT80 | disease | C0432198 | GermlineCausalMutation | 0.4 | disgenet |
| Short rib-polydactyly syndrome, Beemer type | IFT80 | disease | C0432198 | CausalMutation | 0.4 | disgenet |
| Short rib-polydactyly syndrome, Beemer type | IFT122 | disease | C0432198 | GeneticVariation | 0.31 | disgenet |
| Short rib-polydactyly syndrome, Beemer type | EVC2 | disease | C0432198 | CausalMutation | 0.1 | disgenet |
| Short rib-polydactyly syndrome, Beemer type | TTC21B | disease | C0432198 | CausalMutation | 0.1 | disgenet |
| Short rib-polydactyly syndrome, Beemer type | WDR19 | disease | C0432198 | CausalMutation | 0.1 | disgenet |
| Short rib-polydactyly syndrome, Beemer type | EVC2 | disease | C0432198 | GeneticVariation | 0.1 | disgenet |
| Short rib-polydactyly syndrome, Beemer type | NEK1 | disease | C0432198 | CausalMutation | 0.1 | disgenet |
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