Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
0.010 GeneticVariation disease BEFREE Although the role of variants of the CHCHD2 gene in PD and LBD remains to be further elucidated, the rare variants in the mitochondrial targeting sequence may be a risk factor for Lewy body disorders, which may link CHCHD2 to other genetic forms of parkinsonism with mitochondrial dysfunction. 26561290 2015