×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
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
Fabry Disease
1.000
CausalMutation
CLINVAR
Significant improvement in Fabry disease podocytopathy after 3 years of treatment with agalsidase beta.
27129690 2016
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
27560961 2016
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
27560961 2016
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
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
Fabry Disease
1.000
GeneticVariation
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
Fabry Disease
1.000
CausalMutation
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
Fabry Disease
1.000
CausalMutation
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
Fabry Disease
1.000
CausalMutation
CLINVAR
X-chromosome inactivation in female patients with Fabry disease.
25974833 2016
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Gastrointestinal involvement in Fabry disease. So important, yet often neglected.
26333625 2016
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
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
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
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
Fabry Disease
1.000
GeneticVariation
CLINVAR
X-chromosome inactivation in female patients with Fabry disease.
25974833 2016
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
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
Fabry Disease
1.000
CausalMutation
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
Fabry Disease
1.000
CausalMutation
CLINVAR
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
25407461 2015
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Diagnosing Fabry disease--delays and difficulties within discordant siblings.
23378663 2015
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
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
Fabry Disease
1.000
CausalMutation
CLINVAR
Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.
25382311 2015
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.
25382311 2015
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
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
Fabry Disease
1.000
CausalMutation
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
Fabry Disease
1.000
CausalMutation
CLINVAR
Thromboembolic events in Fabry disease and the impact of factor V Leiden.
25663229 2015
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
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
Fabry Disease
1.000
CausalMutation
CLINVAR
Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.
25040344 2015