Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Hereditary fructose intolerance in Brazilian patients. | 26937407 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. | 20033295 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations. | 18541450 | 2008 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations. | 18541450 | 2008 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. | 15880727 | 2005 |
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|
A | 0.700 | GeneticVariation | CLINVAR | The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. | 15880727 | 2005 |
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|
A | 0.700 | GeneticVariation | CLINVAR | A partially active mutant aldolase B from a patient with hereditary fructose intolerance. | 8299883 | 1994 |
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|
A | 0.700 | CausalMutation | CLINVAR | Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. | 8071980 | 1994 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | A partially active mutant aldolase B from a patient with hereditary fructose intolerance. | 8299883 | 1994 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Aldolase B and fructose intolerance. | 8299892 | 1994 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. | 8071980 | 1994 |