Gene: GLA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease. 8069316

1994
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. 27979989

2017
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. 2171331

1990
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
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
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. 18154965

2007
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT HFSA 2010 Comprehensive Heart Failure Practice Guideline. 20610207

2010
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation BEFREE 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
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. 9100224

1997
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 26415523

2016
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. 10666480

1999
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation BEFREE Additionally, we detected 8 subjects carrying genetic variants possibly linked to late onset Fabry disease (p.Arg118Cys and p.Ala143Thr), 4 cases with polymorphism p.Asp313Tyr and 36 individuals with single nucleotide polymorphisms in intronic regions of GLA. 29631605

2018
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Identification of four novel mutations in five unrelated Korean families with Fabry disease. 11076046

2000
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
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: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
G 0.860 GeneticVariation CLINVAR Screening for pharmacological chaperones in Fabry disease. 17532296

2007
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. 7504405

1993
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. 23860966

2013
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 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: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Mutation analysis in 11 French patients with Fabry disease. 9452111

1998
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation BEFREE The Fabry disease-causing A143T mutation was seen in an African-American male with cryptogenic stroke (0.18% of all strokes: upper 95% CI=0.53%; 0.65% of cryptogenic strokes: upper 95% CI=1.92%). 20007919

2010
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. 10208848

1999
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote. 9452090

1998
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR Fabry disease: 20 novel GLA mutations in 35 families. 11668641

2001