Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.170 | AlteredExpression | disease | BEFREE | We aimed to clarify the utility of combined measurement of plasma globotriaosylsphingosine (lyso-Gb3) concentration and α-galactosidase A activity (α-GAL) as a primary screening of FD in unexplained LVH patients.Methods and Results:Between 2014 and 2016, both lyso-Gb3 and α-GAL were measured in 277 consecutive patients (male 215, female 62, age 25-79 years) with left ventricular wall thickness >12 mm on echocardiogram: 5 patients (1.8%) screened positive (2 (0.7%) showed high lyso-Gb3 and 4 (1.4%) had low α-GAL levels). | 31308318 | 2019 | ||||
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0.170 | GeneticVariation | disease | BEFREE | Twenty-four heterozygous females carrying α-galactosidase A mutation and without left ventricular hypertrophy underwent cardiac positron emission tomography and magnetic resonance using <sup>18</sup>F-FDG for glucose uptake and 2-dimensional strain echocardiography. | 29626078 | 2018 | ||||
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0.170 | GeneticVariation | disease | BEFREE | Interleukin-18 deteriorates Fabry cardiomyopathy and contributes to the development of left ventricular hypertrophy in Fabry patients with GLA IVS4+919 G>A mutation. | 27888626 | 2016 | ||||
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0.170 | GeneticVariation | disease | BEFREE | We developed a diagnostic algorithm for adults with LVH (maximal wall thickness (MWT) of >12 mm), GLA GVUS and an uncertain diagnosis of FD. | 25442977 | 2014 | ||||
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0.170 | GeneticVariation | disease | BEFREE | Fabry disease is an X-linked lysosomal storage disorder that results from a deficiency of the enzyme α-galactosidase A. Fabry disease is present in 4-5% of men with unexplained left ventricular hypertrophy or cryptogenic stroke. | 22849389 | 2012 | ||||
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0.170 | GeneticVariation | disease | BEFREE | Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the α-galactosidase A (GLA) gene, and the disease is a relatively prevalent cause of left ventricular hypertrophy followed by conduction abnormalities and arrhythmias. | 21333496 | 2011 | ||||
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0.170 | GeneticVariation | disease | BEFREE | Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the α-galactosidase A gene (GLA), and the disease is a relatively prevalent cause of left ventricular hypertrophy mimicking idiopathic hypertrophic cardiomyopathy. | 22008442 | 2011 | ||||
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0.170 | Biomarker | disease | HPO |