Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Progressive myoclonic epilepsy with dystonia
0.300 GermlineCausalMutation disease ORPHANET TBC1D24 truncating mutation resulting in severe neurodegeneration. 23343562 2013
Progressive myoclonic epilepsy with dystonia
0.300 GermlineCausalMutation disease ORPHANET Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3. 21087195 2010