Gene: GLA ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555984840
rs1555984840
GLA ; RPL36A-HNRNPH2
T 0.700 CausalMutation CLINVAR Female Fabry disease patients and X-chromosome inactivation. 29079200

2018
dbSNP: rs797044777
rs797044777
GLA ; RPL36A-HNRNPH2
C 0.700 CausalMutation CLINVAR Female Fabry disease patients and X-chromosome inactivation. 29079200

2018
dbSNP: rs869312401
rs869312401
GLA ; RPL36A-HNRNPH2
A 0.700 CausalMutation CLINVAR Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease. 29491734

2018
dbSNP: rs886044766
rs886044766
GLA ; RPL36A-HNRNPH2
T 0.700 CausalMutation CLINVAR Conjunctival lymphangiectasia associated with classic Fabry disease. 28500230

2018
dbSNP: rs1555987101
rs1555987101
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
G 0.700 CausalMutation CLINVAR A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family. 27211852

2017
dbSNP: rs1555987232
rs1555987232
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
G 0.700 CausalMutation CLINVAR The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. 27657681

2017
dbSNP: rs1555987232
rs1555987232
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
G 0.700 CausalMutation CLINVAR Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy. 28672034

2017
dbSNP: rs1569304190
rs1569304190
GLA ; RPL36A-HNRNPH2
C 0.700 GeneticVariation CLINVAR The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. 27657681

2017
dbSNP: rs1569304886
rs1569304886
GLA ; RPL36A-HNRNPH2
C 0.700 GeneticVariation CLINVAR The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. 27657681

2017
dbSNP: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
T 0.700 CausalMutation CLINVAR Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy. 27554049

2017
dbSNP: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
T 0.700 CausalMutation CLINVAR Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease. 28430823

2017
dbSNP: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
T 0.700 CausalMutation CLINVAR Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease. 28082092

2017
dbSNP: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
T 0.700 CausalMutation CLINVAR Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease. 28377241

2017
dbSNP: rs398123217
rs398123217
GLA ; RPL36A-HNRNPH2
C 0.700 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
dbSNP: rs398123221
rs398123221
GLA ; RPL36A-HNRNPH2
A 0.700 CausalMutation CLINVAR Fabry Disease: An Uncommon Cause of Renal Failure. 28389313

2017
dbSNP: rs869312203
rs869312203
GLA ; RPL36A-HNRNPH2
T 0.700 GeneticVariation CLINVAR Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease. 28682471

2017
dbSNP: rs869312401
rs869312401
GLA ; RPL36A-HNRNPH2
A 0.700 CausalMutation CLINVAR Fabry disease due to D313Y and novel GLA mutations. 28988177

2017
dbSNP: rs869312401
rs869312401
GLA ; RPL36A-HNRNPH2
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs886044843
rs886044843
GLA ; RPL36A-HNRNPH2
A 0.700 CausalMutation CLINVAR The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. 27657681

2017
dbSNP: rs111812846
rs111812846
GLA ; RPL36A-HNRNPH2
G 0.700 GeneticVariation CLINVAR Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease. 27560961

2016
dbSNP: rs1555985830
rs1555985830
GLA ; RPL36A-HNRNPH2
T 0.700 CausalMutation CLINVAR The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis. 27083555

2016
dbSNP: rs1555987232
rs1555987232
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
G 0.700 CausalMutation CLINVAR Significant improvement in Fabry disease podocytopathy after 3 years of treatment with agalsidase beta. 27129690

2016
dbSNP: rs1569303218
rs1569303218
GLA ; RPL36A-HNRNPH2
A 0.700 GeneticVariation CLINVAR X-chromosome inactivation in female patients with Fabry disease. 25974833

2016
dbSNP: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
T 0.700 CausalMutation CLINVAR The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer. 27595546

2016
dbSNP: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
T 0.700 CausalMutation CLINVAR Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation. 27931613

2016