Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis. 27083555

2016
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene. 8807334

1996
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A). 20821055

2010
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 GeneticVariation CLINVAR Pediatric Fabry disease. 15713906

2005
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 GeneticVariation CLINVAR [Early diagnosis of Fabry disease in children]. 21946453

2011
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR New mutations in the GLA gene in Brazilian families with Fabry disease. 22551898

2012
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 GeneticVariation CLINVAR Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease. 28682471

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease. 23537685

2013
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
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
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Functional studies of new GLA gene mutations leading to conformational Fabry disease. 19941952

2010
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 GeneticVariation CLINVAR A comparison of brain glucose metabolism in diabetes as measured by positron emission tomography or by arteriovenous techniques. 2393552

1990
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Pulmonary involvement in Fabry disease. 9116979

1997
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
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
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. 20031620

2009
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Ocular manifestations of Fabry disease within in a single kindred. 20615758

2010
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
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
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. 18424138

2008
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant. 11688386

2001
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. 11914245

2002
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
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
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. 27979989

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 GeneticVariation CLINVAR Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. 18154965

2007
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
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
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR These studies further define the heterogeneity of mutations in the alpha-Gal A gene causing Fabry disease, permit precise heterozygote detection and prenatal diagnosis, and help delineate phenotype-genotype correlations in this disease.</AB 10666480

1999
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 GeneticVariation CLINVAR Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age. 29867742

2018