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: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase 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
Squamous cell carcinoma of esophagus
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 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: 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: 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: C0338656
Disease: Impaired cognition
Impaired cognition
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: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
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
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: 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: C4017118
Disease: ADULT POLYGLUCOSAN BODY NEUROPATHY
ADULT POLYGLUCOSAN BODY NEUROPATHY
disease 0.100 None 0 5
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
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: C0085605
Disease: Liver Failure
Liver Failure
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: C1623038
Disease: Cirrhosis
Cirrhosis
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: 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
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: 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
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: C0497327
Disease: Dementia
Dementia
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
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: 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: C1305855
Disease: Body mass index
Body mass index
phenotype 0.100 None 1.000 3 2 2015 2019
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