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 Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. 9883849 1999
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. 23306324 2013
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease). 20628902 2010
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. 11828341 2002
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease. 12786754 2003
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 Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. 11804208 2001
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry. 22227322 2012
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative. 20022777 2010
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Because Fabry disease and primary erythromelalgia share similar symptoms, it is a good strategy for clinical physicians to perform genetic mutation screenings on both SCN9A and GLA genes in those patients with limb burning pain but without a clear inheritant pattern. 27211852 2017
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR By use of chemical cleavage of mismatches adapted to fluorescence-based detection systems, we have characterized the mutations underlying alpha-Gal A deficiency in 16 individuals from six unrelated families with FD. 10208848 1999
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR By use of chemical cleavage of mismatches adapted to fluorescence-based detection systems, we have characterized the mutations underlying alpha-Gal A deficiency in 16 individuals from six unrelated families with FD. 10208848 1999
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Cardiovascular manifestations in Fabry disease: a clinical and echocardiographic study. 17452128 2007
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. 27979989 2017
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. 27979989 2017
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease. 10838196 2000
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 CausalMutation disease CLINVAR Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A. 24386359 2013
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A. 24386359 2013
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Conjunctival lymphangiectasia associated with classic Fabry disease. 28500230 2018
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease. 8069316 1994
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma. 24236025 2013
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR DGJ was capable of normalizing intracellular processing of mutant alpha-Gal A found in both classic (L166V) and variant (R301Q) Fabry disease patients. 17555407 2007
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR DGJ was capable of normalizing intracellular processing of mutant alpha-Gal A found in both classic (L166V) and variant (R301Q) Fabry disease patients. 17555407 2007
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Diagnosing Fabry disease--delays and difficulties within discordant siblings. 23378663 2015