Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Behr syndrome OPA1 disease C0221061 Biomarker 0.74 disgenet
Behr syndrome OPA1 disease C0221061 GeneticVariation 0.74 disgenet
Behr syndrome OPA1 disease C0221061 CausalMutation 0.74 disgenet
Behr syndrome C19orf12 disease C0221061 GeneticVariation 0.01 disgenet
Behr syndrome FDXR NA C0221061 NA NA orphanet
Behr syndrome MTPAP NA C0221061 NA NA orphanet
Behr syndrome ATP1A3 NA C0221061 NA NA orphanet
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