| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib. | 28224773 | 2017 |
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|
C | 0.700 | CausalMutation | CLINVAR | Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing. | 26913919 | 2016 |
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|
C | 0.700 | CausalMutation | CLINVAR | Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity. | 24646511 | 2014 |
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|
C | 0.700 | CausalMutation | CLINVAR | Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. | 22899091 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b. | 15953877 | 2005 |
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|
C | 0.700 | CausalMutation | CLINVAR | Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter. | 10940311 | 2000 |
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|
C | 0.700 | CausalMutation | CLINVAR | Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. | 10923042 | 2000 |
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|
C | 0.700 | CausalMutation | CLINVAR | Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. | 10026167 | 1999 |
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|
C | 0.700 | CausalMutation | CLINVAR | Molecular diagnosis of type 1c glycogen storage disease. | 10323254 | 1999 |
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|
C | 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 |