Gene: GLA ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Molecular and clinical studies in five index cases with novel mutations in the GLA gene. 26691501 2016
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Significant improvement in Fabry disease podocytopathy after 3 years of treatment with agalsidase beta. 27129690 2016
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease. 27560961 2016
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease. 27560961 2016
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation. 27931613 2016
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease. 27356758 2016
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia. 27629047 2016
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease. 27356758 2016
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR X-chromosome inactivation in female patients with Fabry disease. 25974833 2016
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Gastrointestinal involvement in Fabry disease. So important, yet often neglected. 26333625 2016
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease 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
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Fabry disease (FD) is a rare metabolic disorder of glycosphingolipid storage caused by mutations in the GLA gene encoding lysosomal hydrolase α-galactosidase A (α-gal A). 26415523 2016
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR X-chromosome inactivation in female patients with Fabry disease. 25974833 2016
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy. 27992580 2016
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Fabry disease (FD) is a rare metabolic disorder of glycosphingolipid storage caused by mutations in the GLA gene encoding lysosomal hydrolase α-galactosidase A (α-gal A). 26415523 2016
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 25407461 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Diagnosing Fabry disease--delays and difficulties within discordant siblings. 23378663 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase. 26252393 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations. 25382311 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations. 25382311 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies. 25468652 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy. 26083343 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Thromboembolic events in Fabry disease and the impact of factor V Leiden. 25663229 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance. 25040344 2015