Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
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 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease. | 29491734 | 2018 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Female Fabry disease patients and X-chromosome inactivation. | 29079200 | 2018 |
||||||||
|
|
0.100 | GeneticVariation | CLINVAR | Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age. | 29867742 | 2018 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Conjunctival lymphangiectasia associated with classic Fabry disease. | 28500230 | 2018 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease. | 29018006 | 2017 |
||||||||
|
|
0.100 | GeneticVariation | CLINVAR | Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease. | 28682471 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy. | 28672034 | 2017 |
||||||||
|
|
0.100 | GeneticVariation | CLINVAR | Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. | 27979989 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. | 27979989 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease. | 28082092 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | 27532257 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease. | 28377241 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system. | 28302345 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Mutational analysis of the GLA gene in Mexican families with Fabry disease. | 28360401 | 2017 |
||||||||
|
|
0.100 | GeneticVariation | CLINVAR | Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies. | 28649509 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family. | 27211852 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. | 27657681 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease. | 28430823 | 2017 |
||||||||
|
|
0.100 | GeneticVariation | CLINVAR | The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. | 27657681 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment. | 28756410 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Fabry disease due to D313Y and novel GLA mutations. | 28988177 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy. | 27554049 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Fabry Disease: An Uncommon Cause of Renal Failure. | 28389313 | 2017 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy. | 27992580 | 2016 |