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 We conclude, on the basis of the results recorded in this study and those in previous reports, that the pathogenesis of atypical Fabry disease is closely associated with point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene. 1315715 1992
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser. 2152885 1990
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. 2171331 1990
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 CausalMutation disease CLINVAR Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. 2539398 1989
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. 7504405 1993
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. 7504405 1993
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR These studies revealed that most mutations in the alpha-galactosidase A gene causing Fabry disease were private, that codons 111-122 defined a deletion hot-spot, and that different substitutions of the same codon resulted in markedly different disease phenotypes. 7531540 1994
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR These studies revealed that most mutations in the alpha-galactosidase A gene causing Fabry disease were private, that codons 111-122 defined a deletion hot-spot, and that different substitutions of the same codon resulted in markedly different disease phenotypes. 7531540 1994
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease. 7575533 1995
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. 7911050 1994
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 Mutation analysis in patients with the typical form of Anderson-Fabry disease. 8395937 1993
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy. 8738659 1996
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease CLINVAR Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries. 8875188 1996
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries. 8875188 1996
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted. 8878432 1996
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. 9100224 1997
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. 9100224 1997
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Pulmonary involvement in Fabry disease. 9116979 1997
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Generation and characterization of transgenic mice expressing a human mutant alpha-galactosidase with an R301Q substitution causing a variant form of Fabry disease. 9395081 1997
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease. 9452068 1998
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Mutation analysis in 11 French patients with Fabry disease. 9452111 1998