Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
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0.100 | CausalMutation | CLINVAR | Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry. | 22227322 | 2012 |
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0.100 | CausalMutation | CLINVAR | Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. | 26415523 | 2016 |
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0.100 | CausalMutation | CLINVAR | Five novel mutations in fourteen patients with Fabry Disease. | 10649504 | 2000 |
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0.100 | GeneticVariation | CLINVAR | Frequency of Fabry disease in male and female haemodialysis patients in Spain. | 20122163 | 2010 |
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0.100 | CausalMutation | CLINVAR | Fabry disease: a new approach for the screening of females in high-risk groups. | 24582695 | 2014 |
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0.100 | CausalMutation | CLINVAR | [Genetic and clinical study of three Chinese pedigrees with Fabry disease]. | 23568732 | 2013 |
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0.100 | CausalMutation | CLINVAR | Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy. | 22176145 | 2011 |
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0.100 | GeneticVariation | CLINVAR | Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone. | 18205205 | 2008 |
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0.100 | CausalMutation | CLINVAR | What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease. | 23537685 | 2013 |
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0.100 | CausalMutation | CLINVAR | Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries. | 8875188 | 1996 |
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0.100 | CausalMutation | CLINVAR | Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations. | 25382311 | 2015 |
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0.100 | CausalMutation | CLINVAR | Neuropathic symptoms and findings in women with Fabry disease. | 18387337 | 2008 |
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0.100 | GeneticVariation | CLINVAR | Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C. | 24661928 | 2014 |
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0.100 | GeneticVariation | CLINVAR | Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations. | 25382311 | 2015 |
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0.100 | CausalMutation | CLINVAR | A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted. | 8878432 | 1996 |
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0.100 | GeneticVariation | CLINVAR | Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. | 27979989 | 2017 |
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0.100 | CausalMutation | CLINVAR | Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy. | 8738659 | 1996 |
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0.100 | GeneticVariation | CLINVAR | Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. | 25611685 | 2015 |
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0.100 | GeneticVariation | CLINVAR | Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. | 23935525 | 2013 |
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0.100 | CausalMutation | CLINVAR | Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. | 27979989 | 2017 |
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0.100 | CausalMutation | CLINVAR | Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature. | 22078290 | 2012 |
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0.100 | GeneticVariation | CLINVAR | The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. | 19387866 | 2009 |
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0.100 | CausalMutation | CLINVAR | Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. | 18424138 | 2008 |
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0.100 | CausalMutation | CLINVAR | Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma. | 24236025 | 2013 |
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0.100 | GeneticVariation | CLINVAR | Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease. | 27356758 | 2016 |