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: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		phenotype 0.100 None 1.000 1 1 2020 2020
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0013604
Disease: Edema
Edema 		phenotype 0.100 None 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype 0.100 None 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices 		disease 0.100 None 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		phenotype 0.100 None 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
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: 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: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype 0.100 None 0 0
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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
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: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group 0.360 None 1.000 7 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: C4017116
Disease: GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC
GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC 		phenotype 0.100 None 0 1
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C4017117
Disease: GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR
GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR 		phenotype 0.100 None 0 2
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C4017114
Disease: GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC
GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC 		phenotype 0.100 None 0 2
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: 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: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		disease 1.000 None 1.000 50 20 1996 2017
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic 		disease 0.100 None 1.000 18 8 1996 2016
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1856305
Disease: GSD IV, Neuromuscular Form, Childhood
GSD IV, Neuromuscular Form, Childhood 		disease 0.400 None 0 1
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1856304
Disease: GSD IV, Neuromuscular Form, Congenital
GSD IV, Neuromuscular Form, Congenital 		disease 0.400 None 0 6
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1856303
Disease: GSD IV, Neuromuscular Form, Fatal Perinatal
GSD IV, Neuromuscular Form, Fatal Perinatal 		disease 0.300 None 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0018989
Disease: Hemiparesis
Hemiparesis 		phenotype 0.100 None 0 0