Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		disease 1.000 None 1.000 5 0 1996 2017
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1849722
Disease: Polyglucosan Body Disease, Adult Form
Polyglucosan Body Disease, Adult Form 		disease 0.800 None 1.000 4 0 1998 2018
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group 0.360 None 1.000 1 0 1999 2016
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		disease 0.310 strong 1.000 1 0 2004 2011
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1856309
Disease: Fetal hydrops (in perinatal or congenital neuromuscular forms)
Fetal hydrops (in perinatal or congenital neuromuscular forms) 		phenotype 0.300 strong 1.000 1 0 2012 2012