Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Campomelic Dysplasia with Autosomal Sex Reversal | SOX9 | disease | C1842462 | CausalMutation | 0.11 | disgenet |
Campomelic Dysplasia with Autosomal Sex Reversal | SOX9 | disease | C1842462 | GeneticVariation | 0.11 | disgenet |
Campomelic Dysplasia with Autosomal Sex Reversal | SOX9-AS1 | disease | C1842462 | CausalMutation | 0.1 | disgenet |
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