Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
0.310 Biomarker disease GENOMICS_ENGLAND Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chain. 21620786 2011
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
0.310 Biomarker disease BEFREE Eight patients with GBE deficiency had different neuromuscular presentations: three had fetal akinesia deformation sequence (FADS), three had congenital myopathy, one had juvenile myopathy, and one had combined myopathic and hepatic features. 15452297 2004