GLUL, glutamate-ammonia ligase, 2752

N. diseases: 200; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital 		0.720 CausalMutation disease CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.430 Biomarker phenotype HPO
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		0.210 Biomarker disease MGD
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.180 Biomarker phenotype HPO
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0015230
Disease: Exanthema
Exanthema 		0.100 Biomarker phenotype HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.100 Biomarker group HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0428977
Disease: Bradycardia
Bradycardia 		0.100 Biomarker phenotype HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker phenotype HPO
CUI: C1833431
Disease: Subependymal cysts
Subependymal cysts 		0.100 Biomarker phenotype HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 Biomarker phenotype HPO
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 Biomarker phenotype HPO
CUI: C1839858
Disease: Periventricular cysts
Periventricular cysts 		0.100 Biomarker phenotype HPO
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.100 Biomarker phenotype HPO
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		0.100 Biomarker phenotype HPO
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		0.100 Biomarker disease HPO
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 Biomarker group BEFREE "GS-KO/A" mice were born without malformations, did not suffer from seizures, had a suckling reflex, and did drink immediately after birth, but then gradually failed to feed and died on postnatal day 3. 20140959 2010
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		0.010 GeneticVariation disease BEFREE 4-(2-Aminoethyl) benzenesulfonyl fluoride hydrochloride (AEBSF); acid-sensing ion channels (ASICs); analysis of variance (ANOVA); bicinchoninic acid (BCA); brain-derived neurotrophic factor (BDNF); central nervous system (CNS); ciliary neurotrophic factor (CNTF); dimethyl sulfoxide (DMSO); endoplasmic reticulum (ER); ethylene glycol-bis(β-aminoethyl ether)-N,N,N',N'-tetraacetic acid (EGTA); ethylenediaminetetraacetic acid (EDTA); Food and Drug Administration (FDA); glial fibrillary acidic protein (GFAP); glutamine synthetase (GS); intraocular pressure (IOP); kilodalton (kDa); Krebs-Ringer Buffer (KRB); optic nerve crush (ONC); phosphate-buffered saline (PBS); plasma membrane (PM); polymerase chain reaction (PCR); retinal ganglion cell (RGC); RNA Binding Protein With Multiple Splicing (RBPMS); room temperature (RT); standard error of the mean (SEM). 29111855 2018