|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.
|
1315715 |
1992 |
|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
An atypical variant of Fabry's disease with manifestations confined to the myocardium.
|
1846223 |
1991 |
|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
|
2171331 |
1990 |
|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
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 |
|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
|
2539398 |
1989 |
|
rs104894839
|
|
Fabry Disease
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs104894841
|
|
Fabry Disease
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A male Fabry disease patient treated with intravenous thrombolysis for acute ischemic stroke.
|
25439755 |
2015 |
|
rs104894841
|
|
Fabry Disease
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Pathology and function of conduction tissue in Fabry disease cardiomyopathy.
|
26047621 |
2015 |
|
rs104894841
|
|
Fabry Disease
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
|
20505683 |
2010 |
|
rs104894841
|
|
Fabry Disease
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
|
18205205 |
2008 |
|
rs104894841
|
|
Fabry Disease
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
|
15712228 |
2005 |
|
rs104894841
|
|
Fabry Disease
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
|
12938095 |
2003 |
|
rs104894841
|
|
Fabry Disease
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
|
12428061 |
2002 |
|
rs104894841
|
|
Fabry Disease
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.
|
11889412 |
2002 |
|
rs104894841
|
|
Fabry Disease
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.
|
11322659 |
2001 |
|
rs104894841
|
|
Fabry Disease
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Five novel mutations in fourteen patients with Fabry Disease.
|
10649504 |
2000 |
|
rs104894841
|
|
Fabry Disease
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
|
10666480 |
1999 |
|
rs104894841
|
|
Fabry Disease
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Pulmonary involvement in Fabry disease.
|
9116979 |
1997 |
|
rs104894841
|
|
Fabry Disease
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
|
7504405 |
1993 |
|
rs104894841
|
|
Fabry Disease
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutation analysis in patients with the typical form of Anderson-Fabry disease.
|
8395937 |
1993 |
|
rs104894842
|
|
Fabry Disease
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs104894843
|
|
Fabry Disease
|
A |
0.700 |
CausalMutation
|
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 |
|
rs104894843
|
|
Fabry Disease
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutation analysis in patients with the typical form of Anderson-Fabry disease.
|
8395937 |
1993 |
|
rs104894844
|
|
Fabry Disease
|
A |
0.700 |
CausalMutation
|
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 |
|
rs104894844
|
|
Fabry Disease
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
|
7911050 |
1994 |