Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
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0.100 | CausalMutation | CLINVAR | Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy. | 27992580 | 2016 |
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0.100 | CausalMutation | CLINVAR | A male Fabry disease patient treated with intravenous thrombolysis for acute ischemic stroke. | 25439755 | 2015 |
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0.100 | CausalMutation | CLINVAR | Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female. | 12938095 | 2003 |
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0.100 | CausalMutation | CLINVAR | Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? | 25407461 | 2015 |
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0.100 | CausalMutation | CLINVAR | Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance. | 25040344 | 2015 |
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0.100 | CausalMutation | CLINVAR | α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease. | 29018006 | 2017 |
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0.100 | CausalMutation | CLINVAR | Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. | 18154965 | 2007 |
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0.100 | GeneticVariation | CLINVAR | A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease. | 21598360 | 2011 |
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0.100 | GeneticVariation | CLINVAR | Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease. | 28682471 | 2017 |
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0.100 | CausalMutation | CLINVAR | The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer. | 27595546 | 2016 |
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0.100 | GeneticVariation | CLINVAR | Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. | 11804208 | 2001 |
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0.100 | CausalMutation | 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 | Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy. | 28672034 | 2017 |
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0.100 | GeneticVariation | CLINVAR | Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. | 15776423 | 2005 |
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0.100 | CausalMutation | CLINVAR | Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease. | 10838196 | 2000 |
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0.100 | GeneticVariation | 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 | Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population. | 15806320 | 2005 |
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0.100 | CausalMutation | CLINVAR | Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease). | 20628902 | 2010 |
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0.100 | CausalMutation | CLINVAR | 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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0.100 | GeneticVariation | CLINVAR | Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. | 18154965 | 2007 |
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0.100 | CausalMutation | CLINVAR | α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants. | 22773828 | 2012 |
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0.100 | GeneticVariation | CLINVAR | Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types. | 29982630 | 2018 |
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0.100 | CausalMutation | CLINVAR | Pharmacological chaperone therapy for Fabry disease. | 22241068 | 2012 |
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0.100 | CausalMutation | CLINVAR | Gastrointestinal involvement in Fabry disease. So important, yet often neglected. | 26333625 | 2016 |
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0.100 | CausalMutation | CLINVAR | [A boy with Fabry disease with the onset at the age of four]. | 23591357 | 2013 |