gbe1 Phenotypes

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Phenotypes

Gene Literature (2)

Nucleotides (83)

Interactants (36)

XB-GENEPAGE-980509

Gene Symbol: gbe1 Gene Name: glucan (1,4-alpha-), branching enzyme 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (49 sources): Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Abnormal upper motor neuron morphology, Abnormality of extrapyramidal motor function, Abnormality of metabolism/homeostasis, Abnormality of movement, Arthrogryposis multiplex congenita, Ascites, Ataxia, Behavioral abnormality, Cardiomyopathy, Cirrhosis, Cognitive impairment, Decreased fetal movement, Decreased liver function, Dementia, Distal sensory impairment, EMG abnormality, Edema, Esophageal varix, Failure to thrive, Gait disturbance, Generalized hypotonia, Hemiparesis, Hepatic failure, Hepatitis, Hepatosplenomegaly, Hydrops fetalis, Hypertrophic cardiomyopathy, Hypotonia, Intellectual disability, Limitation of joint mobility, Muscle weakness, Neurogenic bladder, Orthostatic hypotension, Paresthesia, Peripheral axonal neuropathy, Peripheral neuropathy, Polyhydramnios, Portal hypertension, Reduced tendon reflexes, Skeletal muscle atrophy, Skin ulcer, Spastic paraplegia, Spasticity, Tetraparesis, Tubulointerstitial fibrosis, Urinary bladder sphincter dysfunction, Urinary incontinence [+]
Mouse (22 sources): abnormal fetal cardiomyocyte proliferation, abnormal skeletal muscle morphology, blood vessel congestion, decreased cardiac muscle glycogen level, decreased circulating glucose level, decreased fasting circulating glucose level, decreased glycogen catabolism rate, decreased grip strength, decreased heart left ventricle size, decreased liver glycogen level, decreased skeletal muscle glycogen level, hindlimb paralysis, increased brain glycogen level, increased glycogen level, increased skeletal muscle glycogen level, lethality throughout fetal growth and development, complete penetrance, liver vascular congestion, perinatal lethality, complete penetrance, premature death, pulmonary vascular congestion, thin myocardium, weakness [+]
View all ortholog results at Monarch