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: C1854494
Disease: Slow progression
Slow progression
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: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
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: C0030554
Disease: Paresthesia
Paresthesia
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: 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: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder
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: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly
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: C0018989
Disease: Hemiparesis
Hemiparesis
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
Abnormality of metabolism/homeostasis
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: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes
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: C4553743
Disease: Spasticity, CTCAE
Spasticity, 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
Abnormal upper motor neuron morphology
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: 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: 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: 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: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis
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: C0020541
Disease: Portal Hypertension
Portal Hypertension
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: C0020224
Disease: Polyhydramnios
Polyhydramnios
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: C0003962
Disease: Ascites
Ascites
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: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
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: C0026827
Disease: Muscle hypotonia
Muscle 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
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
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
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: C0004134
Disease: Ataxia
Ataxia
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
GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR
phenotype 0.100 None 0 2