Gene: GLA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. 16595074

2006
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
G 0.860 GeneticVariation CLINVAR High incidence of later-onset fabry disease revealed by newborn screening. 16773563

2006
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation 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
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR High incidence of later-onset fabry disease revealed by newborn screening. 16773563

2006
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. 16980809

2006
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. 16980809

2006
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
C 0.860 CausalMutation CLINVAR High incidence of later-onset fabry disease revealed by newborn screening. 16773563

2006
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
C 0.860 CausalMutation CLINVAR Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. 15712228

2005
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
C 0.860 CausalMutation CLINVAR Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease. 15702404

2005
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
G 0.860 GeneticVariation CLINVAR Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes. 15091117

2004
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
C 0.860 CausalMutation CLINVAR Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes. 15091117

2004
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease. 12786754

2003
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease. 12786754

2003
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 12735292

2002
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
G 0.860 GeneticVariation CLINVAR Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. 11889412

2002
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 12735292

2002
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
C 0.860 CausalMutation CLINVAR Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. 11914245

2002
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR Fabry disease: 20 novel GLA mutations in 35 families. 11668641

2001
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease. 11295840

2001
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease. 11295840

2001
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
C 0.860 CausalMutation CLINVAR Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. 11531969

2001
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Identification of four novel mutations in five unrelated Korean families with Fabry disease. 11076046

2000
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease. 10838196

2000
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Identification of four novel mutations in five unrelated Korean families with Fabry disease. 11076046

2000
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease. 10838196

2000