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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