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 0.612 0.654 1.1E-12
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		disease 0.020 None 1.000 2 0 2012 2013
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		disease 0.010 None 1.000 1 1 2013 2013
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		group 0.010 None 1.000 1 0 2013 2013
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0085623
Disease: Akinesia
Akinesia 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group 0.010 None 1.000 1 0 2013 2013
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
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		disease 0.010 None 1.000 1 0 2012 2012
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 2 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: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.110 None 1.000 1 0 2008 2008
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		group 0.010 None 1.000 1 0 2004 2004
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0029438
Disease: Massive Osteolyses
Massive Osteolyses 		disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		disease 0.310 None 1.000 1 0 2000 2000
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
Carnitine palmitoyl transferase 2 deficiency 		disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group 0.010 None 1.000 1 0 1999 1999
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group 0.010 None 1.000 1 0 1999 1999
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		disease 0.010 None 1.000 1 0 1999 1999