Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | CausalMutation | disease | CLINVAR | Polyglucosan myopathy and functional characterization of a novel GYG1 mutation. | 29143313 | 2018 | ||||
|
0.710 | Biomarker | disease | BEFREE | Our case is consistent with the core phenotype of GYG1-related PGBM2 apart from an early onset of weakness without cardiac symptoms. | 29422440 | 2018 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle. | 28453664 | 2017 | ||||
|
0.710 | GeneticVariation | disease | CLINVAR | Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature. | 27718144 | 2017 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency. | 29264399 | 2017 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1. | 26652229 | 2016 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation. | 26255073 | 2015 | ||||
|
0.710 | GeneticVariation | disease | CLINVAR | A new muscle glycogen storage disease associated with glycogenin-1 deficiency. | 25272951 | 2014 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | A new muscle glycogen storage disease associated with glycogenin-1 deficiency. | 25272951 | 2014 | ||||
|
0.710 | GermlineCausalMutation | disease | ORPHANET | A new muscle glycogen storage disease associated with glycogenin-1 deficiency. | 25272951 | 2014 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. | 20357282 | 2010 |