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 Biomarker disease CLINGEN A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency. 30440076 2019
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital 		0.720 Biomarker disease CLINGEN Selective deletion of glutamine synthetase in the mouse cerebral cortex induces glial dysfunction and vascular impairment that precede epilepsy and neurodegeneration. 30053506 2019
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital 		0.720 Biomarker disease GENOMICS_ENGLAND Role of glutamine synthetase in angiogenesis beyond glutamine synthesis. 30158707 2018
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital 		0.720 GeneticVariation disease BEFREE Two mutations of human GS (R324C and R341C) were connected to congenital glutamine deficiency with severe brain malformations resulting in neonatal death. 26836257 2016
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital 		0.720 Biomarker disease CLINGEN Hyperammonemia in gene-targeted mice lacking functional hepatic glutamine synthetase. 25870278 2015
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital 		0.720 Biomarker disease CLINGEN Natural course of glutamine synthetase deficiency in a 3 year old patient. 21353613 2011
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital 		0.720 Biomarker disease GENOMICS_ENGLAND Natural course of glutamine synthetase deficiency in a 3 year old patient. 21353613 2011
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital 		0.720 Biomarker disease CLINGEN Glutamine synthetase deficiency in murine astrocytes results in neonatal death. 20140959 2010
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital 		0.720 GeneticVariation disease BEFREE Congenital glutamine deficiency with glutamine synthetase mutations. 16267323 2005
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital 		0.720 Biomarker disease CLINGEN Congenital glutamine deficiency with glutamine synthetase mutations. 16267323 2005
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital 		0.720 Biomarker disease CTD_human Congenital glutamine deficiency with glutamine synthetase mutations. 16267323 2005
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital 		0.720 GeneticVariation disease UNIPROT Congenital glutamine deficiency with glutamine synthetase mutations. 16267323 2005
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital 		0.720 GermlineCausalMutation disease ORPHANET Congenital glutamine deficiency with glutamine synthetase mutations. 16267323 2005
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital 		0.720 Biomarker disease CLINGEN Regulation of glutamine synthetase. I. Purification and properties of glutamine synthetase from Escherichia coli. 5336023 1966
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital 		0.720 CausalMutation disease CLINVAR
CUI: C0028754
Disease: Obesity
Obesity 		0.500 Biomarker disease CTD_human Orchestrated downregulation of genes involved in oxidative metabolic pathways in obese vs. lean high-fat young male consumers. 20882379 2011
CUI: C0028754
Disease: Obesity
Obesity 		0.500 Biomarker disease RGD Muscle amino acid pattern in obese rats. 15481771 1997
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation phenotype BEFREE A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency. 30440076 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.430 Biomarker phenotype GENOMICS_ENGLAND Role of glutamine synthetase in angiogenesis beyond glutamine synthesis. 30158707 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.430 Biomarker phenotype BEFREE Our findings demonstrate that inhibition of GS focally in the hippocampal formation triggers a process of epileptogenesis characterized by gradual worsening of seizure severity and involvement of progressively larger neuronal populations over a period of several weeks. 27769717 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.430 AlteredExpression phenotype BEFREE Experimental and clinical study evidence indicates that GABA has an important role in the mechanism and treatment of epilepsy: (a) Abnormalities of GABAergic function have been observed in genetic and acquired animal models of epilepsy; (b) Reductions of GABA-mediated inhibition, activity of glutamate decarboxylase, binding to GABAA and benzodiazepine sites, GABA in cerebrospinal fluid and brain tissue, and GABA detected during microdialysis studies have been reported in studies of human epileptic brain tissue; (c) GABA agonists suppress seizures, and GABA antagonists produce seizures; (d) Drugs that inhibit GABA synthesis cause seizures; and (e) Benzodiazepines and barbiturates work by enhancing GABA-mediated inhibition. 11520315 2001
CUI: C0036572
Disease: Seizures
Seizures 		0.430 Biomarker phenotype HPO
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.400 Biomarker disease BEFREE Excluding individuals with SCZ that committed suicide resulted in an elevated expression in the DLPFC of both ALDH1L1 and glutamine synthetase (GS) genes in patients with SCZ, compared to suicide completers and non-psychiatric controls. 31739114 2020
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.400 Biomarker disease BEFREE The AUROC of GS for diagnosis of AFP-negative HCC was 0.913. 31652385 2020
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.400 Biomarker disease BEFREE RNAscope for GPC3 and GS panel was highly specific and sensitive for the pathological identification of dysplastic nodules, early stages of HCCs, and would differentiate them from HCCs and metastatic tumors compared with IHC. 31832976 2020