SETX, senataxin, 23064

N. diseases: 133; N. variants: 39
Disease: Myoclonus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.010 GeneticVariation phenotype BEFREE Because the same genotype was described in six cases from a Tunisian family with a typical AOA2 without myoclonus, we speculate this latter feature is associated with a second mutated gene, namely AFG3L2 (p.Gly116Arg variant). 25927548 2015