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 The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A. 10090526 1999
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 Five novel mutations in fourteen patients with Fabry Disease. 10649504 2000
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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 		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 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 CausalMutation 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 CausalMutation disease CLINVAR Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype. 11322659 2001
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. 11531969 2001
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Fabry disease: 20 novel GLA mutations in 35 families. 11668641 2001
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Fabry disease: 20 novel GLA mutations in 35 families. 11668641 2001
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease 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 		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 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 Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. 11889412 2002
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. 11889412 2002
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 CausalMutation 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 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 CausalMutation 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 CausalMutation disease CLINVAR Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes. 12428061 2002
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Early detection of Fabry cardiomyopathy by tissue Doppler imaging. 12668521 2003