Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894827
rs104894827
0.800 GeneticVariation UNIPROT Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease. 8069316

1994

dbSNP: rs104894827
rs104894827
0.800 GeneticVariation UNIPROT HFSA 2010 Comprehensive Heart Failure Practice Guideline. 20610207

2010

dbSNP: rs104894827
rs104894827
A 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

dbSNP: rs104894827
rs104894827
0.800 GeneticVariation UNIPROT A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser. 2152885

1990

dbSNP: rs104894827
rs104894827
A 0.800 CausalMutation CLINVAR What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease. 23537685

2013

dbSNP: rs104894827
rs104894827
0.800 GeneticVariation UNIPROT Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. 2539398

1989

dbSNP: rs104894827
rs104894827
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014

dbSNP: rs104894827
rs104894827
A 0.800 CausalMutation CLINVAR Lysosome-associated protein 1 (LAMP-1) and lysosome-associated protein 2 (LAMP-2) in a larger family carrier of Fabry disease. 24334114

2014

dbSNP: rs104894827
rs104894827
0.800 GeneticVariation UNIPROT Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. 10666480

1999

dbSNP: rs104894827
rs104894827
0.800 GeneticVariation UNIPROT Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis. 9105656

1997

dbSNP: rs104894827
rs104894827
0.800 GeneticVariation UNIPROT Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease. 12786754

2003

dbSNP: rs104894827
rs104894827
A 0.800 CausalMutation CLINVAR High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. 20031620

2009

dbSNP: rs104894827
rs104894827
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017

dbSNP: rs104894827
rs104894827
A 0.800 CausalMutation CLINVAR α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants. 22773828

2012

dbSNP: rs104894827
rs104894827
0.800 GeneticVariation UNIPROT Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease. 11295840

2001

dbSNP: rs104894827
rs104894827
0.800 GeneticVariation UNIPROT Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease. 10838196

2000

dbSNP: rs104894827
rs104894827
A 0.800 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs104894827
rs104894827
0.800 GeneticVariation UNIPROT Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. 23860966

2013

dbSNP: rs104894827
rs104894827
0.800 GeneticVariation UNIPROT Identification of four novel mutations in five unrelated Korean families with Fabry disease. 11076046

2000

dbSNP: rs104894827
rs104894827
A 0.800 CausalMutation CLINVAR Fabry disease: a new approach for the screening of females in high-risk groups. 24582695

2014

dbSNP: rs104894827
rs104894827
A 0.800 CausalMutation CLINVAR Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. 23935525

2013

dbSNP: rs104894827
rs104894827
0.800 GeneticVariation UNIPROT An atypical variant of Fabry's disease in men with left ventricular hypertrophy. 7596372

1995

dbSNP: rs104894827
rs104894827
0.800 GeneticVariation UNIPROT An atypical variant of Fabry's disease with manifestations confined to the myocardium. 1846223

1991

dbSNP: rs104894827
rs104894827
0.800 GeneticVariation UNIPROT Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote. 9452090

1998

dbSNP: rs104894827
rs104894827
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Fabry disease. 21934708

2012