Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Parkinson Disease, Familial, Type 1
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
0.070 GeneticVariation BEFREE Our results confirm that the p. A53T SNCA mutation is relatively common in Greek patients with PD or PD plus dementia, particularly in cases with early onset and/or autosomal dominant family history. 29233723 2018
Parkinson Disease, Familial, Type 1
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
0.070 GeneticVariation BEFREE The lack of significant differences in the putaminal binding ratios may reflect a floor effect or a true preferential targeting of the caudate terminals in p.A53T SNCA-associated PD. 30288781 2018
Parkinson Disease, Familial, Type 1
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
0.070 GeneticVariation BEFREE The identification of the p.A53T mutation in the SNCA gene encoding alpha-synuclein (alpha-syn), as causative of autosomal dominant Parkinson disease (PD) represented a fundamental milestone, which paved the way to the extremely prolific field of PD genetics. 26341711 2016
Parkinson Disease, Familial, Type 1
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
0.070 GeneticVariation BEFREE A de novo alpha-synuclein A53T (p.Ala53 Th; c.209G > A) mutation has been identified in a Swedish family with autosomal dominant Parkinson's disease (PD). 19632874 2009
Parkinson Disease, Familial, Type 1
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
0.070 GeneticVariation BEFREE Autosomal dominant Parkinson disease (PD) is caused by duplication or triplication of the alpha-synuclein gene as well as by the A30P, E46K, and A53T mutations.The mechanisms are unknown. 17012252 2006
Parkinson Disease, Familial, Type 1
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
0.070 GeneticVariation BEFREE We report the results of a screen of 230 European familial index cases of Parkinson's disease for the recently described Ala53Thr mutation in the alpha-synuclein gene in an autosomal dominant Parkinson's disease kindred. 9708553 1998
Parkinson Disease, Familial, Type 1
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
0.070 GeneticVariation BEFREE We conclude that the A53T change described in the alpha-synuclein gene is a rare cause of PD or may even be a rare variant. 9499430 1998