Source: ALL

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 0.621 0.517 4.1E-12
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV
disease 0.900 1.000 38 15 1993 2017
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
Polyglucosan Body Disease, Adult Form
disease 0.800 1.000 16 7 1999 2016
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
GSD IV, Neuromuscular Form, Congenital
disease 0.600 5 13 1994 2009
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
GSD IV, Neuromuscular Form, Childhood
disease 0.600 2 8 1996 2005
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
GSD IV, Neuromuscular Form, Fatal Perinatal
disease 0.500 2 7 1996 2005
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
disease 0.400 6 8 1996 2017
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis
disease 0.400 strong 4 0 1999 2016
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.400 strong 1 0 1996 1996
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III
disease 0.310 1.000 1 0 2000 2000
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.310 strong 1.000 1 0 2012 2012
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy
disease 0.300 2 7 1996 2005
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
Cirrhosis, familial, with deposition of abnormal glycogen
disease 0.300 2 7 1996 2005
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis
phenotype 0.300 strong 2 0 2005 2014
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C1856302
Disease: GSD IV, Nonprogressive Hepatic
GSD IV, Nonprogressive Hepatic
disease 0.300 2 7 1996 2005
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease 0.300 limited 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C0271713
Disease: Ketotic hypoglycemia
Ketotic hypoglycemia
phenotype 0.300 strong 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease 0.300 strong 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease 0.120 1.000 2 0 2007 2014
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C0085605
Disease: Liver Failure
Liver Failure
disease 0.110 1.000 1 0 2007 2007
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly
phenotype 0.110 1.000 1 0 2014 2014
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.110 1.000 1 0 2008 2008
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR
phenotype 0.100 3 2 1993 2005
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C4017118
Disease: ADULT POLYGLUCOSAN BODY NEUROPATHY
ADULT POLYGLUCOSAN BODY NEUROPATHY
phenotype 0.100 2 5 2000 2015