Gene: GLA ×
Source: INFERRED ×
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
T 0.860 GeneticVariation CLINVAR Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types. 29982630

2018
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients. 18596132

2008
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. 23935525

2013
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
G 0.860 CausalMutation CLINVAR

dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
G 0.860 GeneticVariation CLINVAR Screening for pharmacological chaperones in Fabry disease. 17532296

2007
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: 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: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. 18154965

2007
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
G 0.860 GeneticVariation CLINVAR Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population. 17804462

2008
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
T 0.860 GeneticVariation CLINVAR High incidence of later-onset fabry disease revealed by newborn screening. 16773563

2006
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
G 0.860 GeneticVariation CLINVAR Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene. 7531540

1994
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR Cardiac symptoms of Fabry disease were found in 6 out of 10 p.A143T carriers. 23219219

2013
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. 27979989

2017
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR In case of the p.Ala143Thr mutation, and possibly also other mutations associated with an attenuated phenotype, diagnostic tools such as biopsy and imaging should critically evaluate the relation of end-organ failure with Fabry disease, as this has important consequences for enzyme replacement therapy. 23430526

2013
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. 9100224

1997
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 CausalMutation CLINVAR

dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR The p.A143T variant is a genetic variant of unknown significance, with its associated phenotype ranging from classical FD to healthy unaffected patients. 29867742

2018
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 Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease. 15702404

2005
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 Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. 7504405

1993