Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.050 | GeneticVariation | BEFREE | The ATP13A2 A746T variant is rare in Han Chinese patients and controls and is not associated with PD susceptibility in this ethnic group. | 26000924 | 2016 |
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0.050 | GeneticVariation | BEFREE | We suggest that the ATP13A2 Ala746Thr variant is not a common risk factor for PD in the Chinese population in Hong Kong. | 23522931 | 2013 |
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0.050 | GeneticVariation | BEFREE | The clinical features and 99mTc-TRODAT-1 single photon emission computed tomography (SPECT) image of the patients carrying G1014S and A746T were similar to that of idiopathic PD. | 21714071 | 2011 |
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0.050 | GeneticVariation | BEFREE | These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. | 20976737 | 2010 |
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0.050 | GeneticVariation | BEFREE | We did not observe a significant association between Ala746Thr and Parkinson's disease in Han Chinese population, even after stratification by age at onset. | 20227461 | 2010 |
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0.010 | GeneticVariation | BEFREE | This study explored the mutations at the Thr12Met and Ala1144Thr gene loci of the ATP13A2 gene in Parkinson's disease patients in the Uygur and Han populations in the Xinjiang province. | 25374329 | 2014 |
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0.010 | GeneticVariation | BEFREE | The observed heterozygosities of the rs4538475 and rs11107 loci in PD and control groups ranged from 0.460 - 0.481 and 0.410 - 0.441, in BST1, PARK15 respectively, while we detected no heterozygosity at the rs12564040 locus in PARK9. | 22490479 | 2012 |
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0.010 | GeneticVariation | BEFREE | Furthermore, two Italian cases with YOPD without atypical features carried a novel missense mutation (Thr12Met, Gly533Arg) in single heterozygous state. | 17485642 | 2007 |