Source: INFERRED

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: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV
disease 1.000 None 1.000 25 19 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: 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: 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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease 0.100 None 1.000 1 17 2017 2017
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
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: 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
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
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: 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: 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: 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: 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: 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: 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: 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
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: 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: 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: 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: 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: 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: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.100 None 0 0