Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Fibular hypoplasia and complex brachydactyly | GDF5 | disease | C1856738 | CausalMutation | 0.92 | disgenet |
Fibular hypoplasia and complex brachydactyly | GDF5 | disease | C1856738 | GeneticVariation | 0.92 | disgenet |
Fibular hypoplasia and complex brachydactyly | GDF5 | disease | C1856738 | GermlineCausalMutation | 0.92 | disgenet |
Fibular hypoplasia and complex brachydactyly | GDF5 | disease | C1856738 | Biomarker | 0.92 | disgenet |
Fibular hypoplasia and complex brachydactyly | BMPR1B | disease | C1856738 | GermlineCausalMutation | 0.4 | disgenet |
Fibular hypoplasia and complex brachydactyly | BMPR1B | disease | C1856738 | CausalMutation | 0.4 | disgenet |
Fibular hypoplasia and complex brachydactyly | DMP1 | disease | C1856738 | Biomarker | 0.3 | disgenet |
Fibular hypoplasia and complex brachydactyly | GDF5-AS1 | disease | C1856738 | CausalMutation | 0.1 | disgenet |
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