Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894845
rs104894845
T 0.860 GeneticVariation CLINVAR Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types. 29982630

2018

dbSNP: rs104894845
rs104894845
T 0.860 GeneticVariation CLINVAR The p.A143T variant is a genetic variant of unknown significance, with its associated phenotype ranging from classical FD to healthy unaffected patients. 29867742

2018

dbSNP: rs104894845
rs104894845
T 0.860 GeneticVariation CLINVAR Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. 27979989

2017

dbSNP: rs28935197
rs28935197
C 0.860 CausalMutation CLINVAR α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease. 29018006

2017

dbSNP: rs28935197
rs28935197
C 0.860 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs104894845
rs104894845
T 0.860 GeneticVariation CLINVAR Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. 23935525

2013

dbSNP: rs104894845
rs104894845
T 0.860 GeneticVariation CLINVAR Cardiac symptoms of Fabry disease were found in 6 out of 10 p.A143T carriers. 23219219

2013

dbSNP: rs104894845
rs104894845
T 0.860 GeneticVariation CLINVAR In case of the p.Ala143Thr mutation, and possibly also other mutations associated with an attenuated phenotype, diagnostic tools such as biopsy and imaging should critically evaluate the relation of end-organ failure with Fabry disease, as this has important consequences for enzyme replacement therapy. 23430526

2013

dbSNP: rs28935197
rs28935197
C 0.860 CausalMutation CLINVAR [Genetic and clinical study of three Chinese pedigrees with Fabry disease]. 23568732

2013

dbSNP: rs28935197
rs28935197
C 0.860 CausalMutation CLINVAR Vascular endothelial growth factor (VEGF-a) in Fabry disease: association with cutaneous and systemic manifestations with vascular involvement. 23332617

2013

dbSNP: rs28935197
rs28935197
C 0.860 CausalMutation CLINVAR Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T). 21972175

2012

dbSNP: rs28935197
rs28935197
C 0.860 CausalMutation CLINVAR A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease. 21598360

2011

dbSNP: rs104894845
rs104894845
T 0.860 GeneticVariation CLINVAR Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients. 18596132

2008

dbSNP: rs104894845
rs104894845
G 0.860 GeneticVariation CLINVAR Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population. 17804462

2008

dbSNP: rs28935197
rs28935197
C 0.860 CausalMutation CLINVAR The c.644A>G mutation that has previously been found mostly in patients with the cardiac variant of FD, was associated with renal but not cardiac involvement in this female and in two other family members. 18849176

2008

dbSNP: rs104894845
rs104894845
G 0.860 GeneticVariation CLINVAR Screening for pharmacological chaperones in Fabry disease. 17532296

2007

dbSNP: rs104894845
rs104894845
T 0.860 GeneticVariation CLINVAR Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. 18154965

2007

dbSNP: rs28935197
rs28935197
C 0.860 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

dbSNP: rs104894845
rs104894845
T 0.860 GeneticVariation CLINVAR Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. 16595074

2006

dbSNP: rs104894845
rs104894845
T 0.860 GeneticVariation CLINVAR Clinical evaluation suggested the diagnosis of Fabry disease, which was confirmed by reduced plasma and leukocyte alpha-galactosidase A activities (8.8% and 13.4% of normal, respectively) due to a missense A143T mutation. 16533976

2006

dbSNP: rs104894845
rs104894845
T 0.860 GeneticVariation CLINVAR High incidence of later-onset fabry disease revealed by newborn screening. 16773563

2006

dbSNP: rs104894845
rs104894845
G 0.860 GeneticVariation CLINVAR High incidence of later-onset fabry disease revealed by newborn screening. 16773563

2006

dbSNP: rs28935197
rs28935197
C 0.860 CausalMutation CLINVAR High incidence of later-onset fabry disease revealed by newborn screening. 16773563

2006

dbSNP: rs28935197
rs28935197
C 0.860 CausalMutation CLINVAR Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease. 15702404

2005

dbSNP: rs28935197
rs28935197
C 0.860 CausalMutation CLINVAR Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. 15712228

2005