TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Disease: Progressive myoclonic epilepsy with dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4706413
Disease: Progressive myoclonic epilepsy with dystonia
Progressive myoclonic epilepsy with dystonia 		0.300 GermlineCausalMutation disease ORPHANET Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3. 21087195 2010
CUI: C4706413
Disease: Progressive myoclonic epilepsy with dystonia
Progressive myoclonic epilepsy with dystonia 		0.300 GermlineCausalMutation disease ORPHANET TBC1D24 truncating mutation resulting in severe neurodegeneration. 23343562 2013