Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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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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T | 0.800 | CausalMutation | 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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T | 0.800 | CausalMutation | CLINVAR | Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin. | 17555407 | 2007 |
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T | 0.800 | CausalMutation | 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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T | 0.800 | CausalMutation | CLINVAR | Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. | 27979989 | 2017 |
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T | 0.800 | CausalMutation | CLINVAR | Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative. | 20022777 | 2010 |
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T | 0.800 | CausalMutation | CLINVAR | Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene. | 7531540 | 1994 |
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T | 0.800 | CausalMutation | CLINVAR | Screening for pharmacological chaperones in Fabry disease. | 17532296 | 2007 |
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T | 0.800 | CausalMutation | CLINVAR | Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance. | 25040344 | 2015 |
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T | 0.800 | CausalMutation | CLINVAR | Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. | 15776423 | 2005 |
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T | 0.800 | CausalMutation | CLINVAR | Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology. | 25026990 | 2014 |
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T | 0.800 | CausalMutation | CLINVAR | A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease. | 21598360 | 2011 |