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
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: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis
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
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
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: 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: 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: C0234132
Disease: Pyramidal sign
Pyramidal 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: C1847584
Disease: Distal sensory impairment
Distal sensory impairment
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: 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
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility
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: 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
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: C0042024
Disease: Urinary Incontinence
Urinary Incontinence
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: C0151786
Disease: Muscle Weakness
Muscle Weakness
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: 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: 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: 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: 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
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: 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: C0037299
Disease: Skin Ulcer
Skin Ulcer
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: C0948163
Disease: Leukoaraiosis
Leukoaraiosis
phenotype 0.100 None 0 0