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 GeneticVariation disease CLINVAR Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients. 20110537 2010
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR These results illustrate the molecular heterogeneity of the lesions causing Fabry disease and emphasize the fact that CpG dinucleotides constitute important hot spots for mutation in the alpha-Gal A gene. 10916280 2000
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease. 21598360 2011
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. 11914245 2002
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 GeneticVariation disease CLINVAR Pediatric Fabry disease. 15713906 2005
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR [Early diagnosis of Fabry disease in children]. 21946453 2011
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease. 28682471 2017
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease 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 		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 GeneticVariation disease CLINVAR Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. 18154965 2007
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 Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age. 29867742 2018
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Novel GLA gene mutations in two Chinese families with classic Fabry disease. 16215932 2005
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T). 21972175 2012
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Anderson-Fabry disease in Austria. 12778775 2003
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Clinical evaluation suggested the diagnosis of Fabry disease, which was confirmed by reduced plasma and leukocyte alpha-galactosidase A activities (8.8% and 13.4% of normal, respectively) due to a missense A143T mutation. 16533976 2006
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Screening for pharmacological chaperones in Fabry disease. 17532296 2007
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR New mutations in the GLA gene in Brazilian families with Fabry disease. 22551898 2012
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR This DHPLC method should improve the rapidity and cost-effectiveness of alpha-Gal A mutation identification in affected males and carrier females for Fabry disease. 15712228 2005
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype. 12175777 2002
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies. 28649509 2017
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young. 23219219 2013
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 GeneticVariation disease CLINVAR Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease. 27356758 2016