Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2717
Gene Symbol: GLA
GLA
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
Entrez Id: 2717
Gene Symbol: GLA
GLA
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
Entrez Id: 2717
Gene Symbol: GLA
GLA
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
Entrez Id: 2717
Gene Symbol: GLA
GLA
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
Entrez Id: 2717
Gene Symbol: GLA
GLA
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
Entrez Id: 2717
Gene Symbol: GLA
GLA
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
Entrez Id: 2717
Gene Symbol: GLA
GLA
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
Entrez Id: 2717
Gene Symbol: GLA
GLA
0.170 Biomarker disease HPO