Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Spondylometaphyseal dysplasia, axial | CFAP410 | disease | C1865695 | CausalMutation | 0.63 | disgenet |
Spondylometaphyseal dysplasia, axial | CFAP410 | disease | C1865695 | Biomarker | 0.63 | disgenet |
Spondylometaphyseal dysplasia, axial | CFAP410 | disease | C1865695 | GeneticVariation | 0.63 | disgenet |
Spondylometaphyseal dysplasia, axial | NEK1 | disease | C1865695 | GeneticVariation | 0.01 | disgenet |
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