Disease: Parkinsonian Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.020 GeneticVariation group BEFREE While variants leading to early onset parkinsonism selectively abolish Sac1 function, our results provide evidence that a critical reduction of the dual phosphatase activity of SYNJ1 underlies a severe disorder with neonatal refractory epilepsy and a neurodegenerative disease course. 27435091 2016
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.020 GeneticVariation group BEFREE The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. 23804563 2013