Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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A | 0.700 | GeneticVariation | CLINVAR | Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. | 27363342 | 2017 |
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A | 0.700 | GeneticVariation | CLINVAR | Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population. | 28433475 | 2017 |
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A | 0.700 | GeneticVariation | CLINVAR | Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation. | 25526786 | 2014 |
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A | 0.700 | GeneticVariation | CLINVAR | Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype. | 25213570 | 2014 |
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A | 0.700 | GeneticVariation | CLINVAR | Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients. | 23884227 | 2013 |
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A | 0.700 | GeneticVariation | CLINVAR | Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones. | 21471980 | 2011 |
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A | 0.700 | GeneticVariation | CLINVAR | Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case. | 20202878 | 2010 |
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A | 0.700 | GeneticVariation | CLINVAR | Structural aspects of therapeutic enzymes to treat metabolic disorders. | 19790257 | 2009 |
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A | 0.700 | GeneticVariation | CLINVAR | The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. | 19862843 | 2009 |
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A | 0.700 | GeneticVariation | CLINVAR | Two new missense mutations of GAA in late onset glycogen storage disease type II. | 17092519 | 2006 |