| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. | 25356970 | 2015 |
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G | 0.700 | CausalMutation | CLINVAR | Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum. | 26231297 | 2015 |
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|
G | 0.700 | CausalMutation | CLINVAR | The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease. | 24008051 | 2014 |
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|
G | 0.700 | CausalMutation | CLINVAR | Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents. | 24150945 | 2014 |
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|
G | 0.700 | CausalMutation | CLINVAR | Pompe disease: design, methodology, and early findings from the Pompe Registry. | 21439876 | 2011 |
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G | 0.700 | CausalMutation | CLINVAR | Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype. | 17210890 | 2007 |
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G | 0.700 | CausalMutation | CLINVAR | Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation. | 17616415 | 2007 |
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|
G | 0.700 | CausalMutation | CLINVAR | Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. | 16917947 | 2006 |
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|
G | 0.700 | CausalMutation | CLINVAR | Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients. | 8558570 | 1995 |
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G | 0.700 | CausalMutation | CLINVAR | Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. | 7717400 | 1995 |
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|
G | 0.700 | CausalMutation | CLINVAR | Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation. | 7881425 | 1994 |