| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.800 | GeneticVariation | CLINVAR | Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature. | 27718144 | 2017 |
|||
|
0.800 | GeneticVariation | UNIPROT | A new muscle glycogen storage disease associated with glycogenin-1 deficiency. | 25272951 | 2014 |
||||
|
C | 0.800 | GeneticVariation | CLINVAR | A new muscle glycogen storage disease associated with glycogenin-1 deficiency. | 25272951 | 2014 |
|||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | Polyglucosan myopathy and functional characterization of a novel GYG1 mutation. | 29143313 | 2018 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle. | 28453664 | 2017 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency. | 29264399 | 2017 |
|||
|
0.700 | GeneticVariation | UNIPROT | A new muscle glycogen storage disease associated with glycogenin-1 deficiency. | 25272951 | 2014 |
||||
|
T | 0.700 | CausalMutation | CLINVAR | Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. | 20357282 | 2010 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |