| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion. | 20848650 | 2010 |
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|
0.700 | GeneticVariation | UNIPROT | The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. | 15880727 | 2005 |
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|
0.700 | GeneticVariation | UNIPROT | Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. | 15532022 | 2004 |
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|
0.700 | GeneticVariation | UNIPROT | Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. | 12205126 | 2002 |
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|
0.700 | GeneticVariation | UNIPROT | Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. | 10970798 | 2000 |
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|
0.700 | GeneticVariation | UNIPROT | Screening for hereditary fructose intolerance mutations by reverse dot-blot. | 10024431 | 1999 |
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|
0.700 | GeneticVariation | UNIPROT | Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. | 8162030 | 1994 |
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|
0.700 | GeneticVariation | UNIPROT | A partially active mutant aldolase B from a patient with hereditary fructose intolerance. | 8299883 | 1994 |
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|
0.700 | GeneticVariation | UNIPROT | A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. | 2336380 | 1990 |
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|
0.700 | GeneticVariation | UNIPROT | Molecular analysis of aldolase B genes in hereditary fructose intolerance. | 1967768 | 1990 |
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|
0.700 | GeneticVariation | UNIPROT | Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. | 3383242 | 1988 |