Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Corpus callosum agenesis neuronopathy | SLC12A6 | disease | C0795950 | GeneticVariation | 0.9 | orphanet , disgenet |
Corpus callosum agenesis neuronopathy | SLC12A6 | disease | C0795950 | CausalMutation | 0.9 | orphanet , disgenet |
Corpus callosum agenesis neuronopathy | SLC12A6 | disease | C0795950 | Biomarker | 0.9 | orphanet , disgenet |
Corpus callosum agenesis neuronopathy | BMS1 | disease | C0795950 | GeneticVariation | 0.02 | disgenet |
Corpus callosum agenesis neuronopathy | ACACA | disease | C0795950 | GeneticVariation | 0.02 | disgenet |
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