Gene: GLA ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894834
rs104894834
GLA ; RPL36A-HNRNPH2
A 0.830 CausalMutation CLINVAR Mutation analysis in patients with the typical form of Anderson-Fabry disease. 8395937

1993
dbSNP: rs104894834
rs104894834
GLA ; RPL36A-HNRNPH2
A 0.830 CausalMutation CLINVAR The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. 27657681

2017
dbSNP: rs104894834
rs104894834
GLA ; RPL36A-HNRNPH2
A 0.830 CausalMutation CLINVAR In contrast, two unrelated cases with classic Fabry disease were found to have different point mutations, which showed a complete loss of enzyme activity in a transient expression assay; 328Gly----Arg (982G----A) in the downstream region of exon 6 in one case and two combined mutations, 66Glu----Gln (196G----C)/112Arg----Cys (334C----T), in exon 2 in the other. 1315715

1992
dbSNP: rs104894834
rs104894834
GLA ; RPL36A-HNRNPH2
A 0.830 CausalMutation CLINVAR Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone. 18698230

2008
dbSNP: rs104894834
rs104894834
GLA ; RPL36A-HNRNPH2
A 0.830 CausalMutation CLINVAR Early detection of Fabry cardiomyopathy by tissue Doppler imaging. 12668521

2003
dbSNP: rs104894834
rs104894834
GLA ; RPL36A-HNRNPH2
A 0.830 CausalMutation CLINVAR Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry. 22227322

2012
dbSNP: rs104894831
rs104894831
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
A 0.810 CausalMutation CLINVAR X-chromosome inactivation in female patients with Fabry disease. 25974833

2016
dbSNP: rs104894831
rs104894831
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
A 0.810 CausalMutation CLINVAR Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene. 7531540

1994
dbSNP: rs104894831
rs104894831
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
A 0.810 CausalMutation CLINVAR Mutational analysis of the GLA gene in Mexican families with Fabry disease. 28360401

2017
dbSNP: rs104894831
rs104894831
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
A 0.810 CausalMutation CLINVAR 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: rs104894831
rs104894831
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
A 0.810 CausalMutation CLINVAR Mutation analysis in 11 French patients with Fabry disease. 9452111

1998
dbSNP: rs104894831
rs104894831
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
A 0.810 CausalMutation CLINVAR Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 26415523

2016
dbSNP: rs869312214
rs869312214
GLA ; RPL36A-HNRNPH2
A 0.810 CausalMutation CLINVAR Molecular and clinical studies in five index cases with novel mutations in the GLA gene. 26691501

2016
dbSNP: rs104894827
rs104894827
GLA ; RPL36A-HNRNPH2
A 0.800 CausalMutation CLINVAR Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. 2539398

1989
dbSNP: rs104894827
rs104894827
GLA ; RPL36A-HNRNPH2
A 0.800 CausalMutation CLINVAR What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease. 23537685

2013
dbSNP: rs104894827
rs104894827
GLA ; RPL36A-HNRNPH2
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
GLA ; RPL36A-HNRNPH2
A 0.800 CausalMutation CLINVAR Fabry disease: a new approach for the screening of females in high-risk groups. 24582695

2014
dbSNP: rs104894827
rs104894827
GLA ; RPL36A-HNRNPH2
A 0.800 CausalMutation CLINVAR New mutations in the GLA gene in Brazilian families with Fabry disease. 22551898

2012
dbSNP: rs104894827
rs104894827
GLA ; RPL36A-HNRNPH2
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
GLA ; RPL36A-HNRNPH2
A 0.800 CausalMutation CLINVAR α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants. 22773828

2012
dbSNP: rs104894827
rs104894827
GLA ; RPL36A-HNRNPH2
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
GLA ; RPL36A-HNRNPH2
A 0.800 CausalMutation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2015
dbSNP: rs104894827
rs104894827
GLA ; RPL36A-HNRNPH2
A 0.800 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: rs104894827
rs104894827
GLA ; RPL36A-HNRNPH2
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
GLA ; RPL36A-HNRNPH2
A 0.800 CausalMutation CLINVAR Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations. 25382311

2015