| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. | 24565827 | 2014 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. | 24565827 | 2014 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders? | 18437526 | 2008 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. | 15906092 | 2005 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. | 12373566 | 2002 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. | 10026167 | 1999 |
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|
A | 0.700 | CausalMutation | CLINVAR | Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. | 10026167 | 1999 |
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|
A | 0.700 | CausalMutation | CLINVAR | A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. | 9758626 | 1998 |
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|
A | 0.700 | GeneticVariation | CLINVAR | A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. | 9758626 | 1998 |