GLA, galactosidase alpha, 2717
N. diseases: 190; N. variants: 203
Source: ALL
Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.800 | GeneticVariation | UNIPROT | Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. | 27854360 | 2017 | |||||||
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0.800 | GeneticVariation | UNIPROT | Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. | 26415523 | 2016 | |||||||
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0.800 | GeneticVariation | UNIPROT | Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant. | 27142856 | 2016 | |||||||
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0.800 | GeneticVariation | UNIPROT | ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. | 25356965 | 2015 | |||||||
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0.800 | GeneticVariation | UNIPROT | Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. | 25355838 | 2014 | |||||||
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0.800 | GeneticVariation | UNIPROT | 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). | 25173338 | 2014 | |||||||
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0.800 | GeneticVariation | UNIPROT | Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. | 23860966 | 2013 | |||||||
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0.800 | GeneticVariation | UNIPROT | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. | 23788249 | 2013 | |||||||
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0.800 | GeneticVariation | UNIPROT | Clinical utility gene card for: Fabry disease. | 21934708 | 2012 | |||||||
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0.800 | GeneticVariation | UNIPROT | HFSA 2010 Comprehensive Heart Failure Practice Guideline. | 20610207 | 2010 | |||||||
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0.800 | GeneticVariation | UNIPROT | Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. | 16980809 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease. | 12786754 | 2003 | |||||||
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0.800 | GeneticVariation | UNIPROT | Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. | 12735292 | 2002 | |||||||
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0.800 | GeneticVariation | UNIPROT | Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease. | 11295840 | 2001 | |||||||
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0.800 | GeneticVariation | UNIPROT | Identification of four novel mutations in five unrelated Korean families with Fabry disease. | 11076046 | 2000 | |||||||
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0.800 | GeneticVariation | UNIPROT | Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease. | 10838196 | 2000 | |||||||
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0.800 | GeneticVariation | UNIPROT | Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. | 10208848 | 1999 | |||||||
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0.800 | GeneticVariation | UNIPROT | Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. | 10666480 | 1999 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutation analysis in 11 French patients with Fabry disease. | 9452111 | 1998 | |||||||
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0.800 | GeneticVariation | UNIPROT | Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote. | 9452090 | 1998 | |||||||
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0.800 | GeneticVariation | UNIPROT | Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis. | 9105656 | 1997 | |||||||
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0.800 | GeneticVariation | UNIPROT | Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins. | 7759078 | 1995 | |||||||
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0.800 | GeneticVariation | UNIPROT | An atypical variant of Fabry's disease in men with left ventricular hypertrophy. | 7596372 | 1995 | |||||||
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0.800 | GeneticVariation | UNIPROT | Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease. | 8069316 | 1994 | |||||||
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0.800 | GeneticVariation | UNIPROT | Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. | 7504405 | 1993 |