Source: HPO

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: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.100 None 1.000 0 0 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
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: 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: 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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		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: 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: 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: C0270790
Disease: Quadriparesis
Quadriparesis 		phenotype 0.100 None 0 0