Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | A male Fabry disease patient treated with intravenous thrombolysis for acute ischemic stroke. | 25439755 | 2015 |
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A | 0.700 | CausalMutation | CLINVAR | Pathology and function of conduction tissue in Fabry disease cardiomyopathy. | 26047621 | 2015 |
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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 |
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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 |
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A | 0.700 | CausalMutation | CLINVAR | Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. | 15712228 | 2005 |
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A | 0.700 | CausalMutation | CLINVAR | Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female. | 12938095 | 2003 |
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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 |
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A | 0.700 | CausalMutation | CLINVAR | Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes. | 12428061 | 2002 |
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A | 0.700 | CausalMutation | CLINVAR | Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype. | 11322659 | 2001 |
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A | 0.700 | CausalMutation | CLINVAR | Five novel mutations in fourteen patients with Fabry Disease. | 10649504 | 2000 |
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A | 0.700 | CausalMutation | CLINVAR | Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. | 10666480 | 1999 |
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A | 0.700 | CausalMutation | CLINVAR | Pulmonary involvement in Fabry disease. | 9116979 | 1997 |
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A | 0.700 | CausalMutation | CLINVAR | Mutation analysis in patients with the typical form of Anderson-Fabry disease. | 8395937 | 1993 |
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A | 0.700 | CausalMutation | CLINVAR | Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. | 7504405 | 1993 |
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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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 |
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A | 0.700 | CausalMutation | CLINVAR | Mutation analysis in patients with the typical form of Anderson-Fabry disease. | 8395937 | 1993 |
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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 |
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A | 0.700 | CausalMutation | CLINVAR | Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. | 7911050 | 1994 |
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A | 0.700 | CausalMutation | CLINVAR | Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. | 7504405 | 1993 |
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR |