| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis. | 9105656 | 1997 |
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|
0.800 | GeneticVariation | UNIPROT | Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins. | 7759078 | 1995 |
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|
0.800 | GeneticVariation | UNIPROT | An atypical variant of Fabry's disease in men with left ventricular hypertrophy. | 7596372 | 1995 |
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|
T | 0.800 | 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 |
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|
0.800 | GeneticVariation | UNIPROT | Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease. | 8069316 | 1994 |
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|
T | 0.800 | CausalMutation | 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 |
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|
0.800 | GeneticVariation | UNIPROT | Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. | 7504405 | 1993 |
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|
0.800 | 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 |
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|
0.800 | GeneticVariation | UNIPROT | An atypical variant of Fabry's disease with manifestations confined to the myocardium. | 1846223 | 1991 |
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|
0.800 | GeneticVariation | UNIPROT | Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. | 2171331 | 1990 |
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|
0.800 | 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 |
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|
0.800 | GeneticVariation | UNIPROT | Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. | 2539398 | 1989 |