Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.010 GeneticVariation group BEFREE Dystonia is common in Leigh syndrome (which may be caused by 75 different genes) and in Leber hereditary ocular neuropathy (LHON) plus disease, due to mutations in mtDNA genes that encode subunits of NADH dehydrogenase, as well as in ARCA2, pantothenate kinase-associated neurodegeneration (PKAN), mitochondrial membrane protein-associated neurodegeneration (MPAN) and POLG1 mutations. 27476418 2017