Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.310 Biomarker 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
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.310 Biomarker 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