rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
The c.644A>G mutation that has previously been found mostly in patients with the cardiac variant of FD, was associated with renal but not cardiac involvement in this female and in two other family members.
|
18849176 |
2008 |
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
|
29018006 |
2017 |
rs28935197
|
|
Fabry Disease
|
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 |
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy.
|
11914245 |
2002 |
rs28935197
|
|
Fabry Disease
|
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 |
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
|
21598360 |
2011 |
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
|
11531969 |
2001 |
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Mutation analysis in patients with the typical form of Anderson-Fabry disease.
|
8395937 |
1993 |
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
High incidence of later-onset fabry disease revealed by newborn screening.
|
16773563 |
2006 |
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).
|
21972175 |
2012 |
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
|
7504405 |
1993 |
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
|
7911050 |
1994 |
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
[Genetic and clinical study of three Chinese pedigrees with Fabry disease].
|
23568732 |
2013 |
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
|
15712228 |
2005 |
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Vascular endothelial growth factor (VEGF-a) in Fabry disease: association with cutaneous and systemic manifestations with vascular involvement.
|
23332617 |
2013 |
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
|
17555407 |
2007 |
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
|
10666480 |
1999 |
rs104894845
|
|
Fabry Disease
|
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 |
rs104894845
|
|
Fabry Disease
|
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 |
rs104894845
|
|
Fabry Disease
|
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 |
rs104894845
|
|
Fabry Disease
|
T |
0.860 |
GeneticVariation
|
CLINVAR |
Fabry disease: 20 novel GLA mutations in 35 families.
|
11668641 |
2001 |
rs104894845
|
|
Fabry Disease
|
G |
0.860 |
GeneticVariation
|
CLINVAR |
Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.
|
17804462 |
2008 |
rs104894845
|
|
Fabry Disease
|
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 |
rs104894845
|
|
Fabry Disease
|
T |
0.860 |
GeneticVariation
|
CLINVAR |
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
|
27979989 |
2017 |