Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 AlteredExpression group BEFREE Squamous cell carcinoma xenografts significantly showed higher expression of GCLM gene than adenocarcinoma xenografts (p=0.023, t-test), while there was no significant difference in GCLC gene expression levels between each histopathological xenograft. 15254739 2004
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 AlteredExpression group BEFREE The frequency of gamma-GCSh expression in carcinoma was significantly higher than in adenoma (p<0.0001). 11774239 2002
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.010 AlteredExpression disease BEFREE To investigate whether expression of gamma-GCS is correlated with tumor progression, we used immunohistochemical approaches to examine 16 human colorectal adenomas and resected 57 carcinomas from untreated patients. 11774239 2002
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 AlteredExpression disease BEFREE Here, we present direct evidence that NF-kappa B activated by ionizing radiation induces the expression of gamma-glutamylcysteine synthetase (gamma-GCS), the rate limiting enzyme of GSH synthesis, using T98G human glioblastoma cells. 9626582 1998
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 Biomarker disease BEFREE Nrf-2 (p < 0.05), HO-1 and GCLC expressions were lowered in the retina of AMD, whereas GCLM and GSTpi expressions were decreased (p < 0.05) with an increase in HO-1 in choroid-RPE of AMD. 31271759 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 Biomarker disease BEFREE GCLM(-/-)/hSOD1<sup>WT</sup> mice developed overt motor symptoms (e.g. tremor, loss of extension reflex in hind-limbs, decreased grip strength and paralysis) characteristic of mice models over-expressing ALS-linked mutant hSOD1. 29307609 2018
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.020 AlteredExpression disease BEFREE A patient with hemolytic anemia and low red blood cell glutathione levels was found to have a deficiency of gamma-glutamylcysteine synthetase activity. 10515893 1999
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.020 GeneticVariation disease BEFREE A missense mutation in the heavy subunit of gamma-glutamylcysteine synthetase gene causes hemolytic anemia. 10733484 2000
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 GeneticVariation disease BEFREE In this study, we enrolled 1746 type 2 diabetic subjects, determined 4 common genetic variants related to oxidative stress (glutamate-cysteine ligase modifier subunit (GCLM) C-588T, myeloperoxidase G-463A, human paraoxonase 1 Gln192Arg and NAD(P)H oxidase p22phox C242T polymorphisms), and measured carotid intima-media thickness (IMT) as a surrogate marker for atherosclerosis. 19126404 2009
CUI: C0004096
Disease: Asthma
Asthma 		0.010 GeneticVariation disease BEFREE The present study was designed to investigate an association of common -588C/T and -23G/T polymorphisms within glutamate cysteine ligase modifier subunit gene with susceptibility to bronchial asthma. 17643973 2007
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 GeneticVariation disease BEFREE In this study, we enrolled 1746 type 2 diabetic subjects, determined 4 common genetic variants related to oxidative stress (glutamate-cysteine ligase modifier subunit (GCLM) C-588T, myeloperoxidase G-463A, human paraoxonase 1 Gln192Arg and NAD(P)H oxidase p22phox C242T polymorphisms), and measured carotid intima-media thickness (IMT) as a surrogate marker for atherosclerosis. 19126404 2009
CUI: C0005138
Disease: Berylliosis
Berylliosis 		0.300 Biomarker disease CTD_human Chronic beryllium disease and glutathione biosynthesis genes. 16766924 2006
CUI: C2350873
Disease: Beryllium Disease
Beryllium Disease 		0.300 Biomarker disease CTD_human Chronic beryllium disease and glutathione biosynthesis genes. 16766924 2006
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 AlteredExpression phenotype BEFREE Elevated expression of both gamma-GCSh mRNA and protein were found in 6 cases, suggesting that transcriptional and/or posttranscriptional regulation play an important role in the upregulation of gamma-GCS during colorectal carcinogenesis. 11774239 2002
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 AlteredExpression phenotype BEFREE These results strongly suggest that MRP and gamma-GCS genes are coordinately up-regulated during colorectal carcinogenesis. 8705999 1996
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 AlteredExpression group BEFREE We used RNase protation assay and Western blot to determine levels of gamma-GCSh mRNA and protein from 10 pairs of matched carcinomas with adjacent normal controls. 11774239 2002
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 AlteredExpression disease BEFREE Carboplatin AUC and gamma-glutamylcysteine synthetase gene expression in peripheral mononuclear cells of lung cancer patients. 11911273 2002
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 AlteredExpression disease BEFREE Proximal 5'-flanking sequence of the human gamma-glutamylcysteine synthetase heavy subunit gene is involved in cisplatin-induced transcriptional up-regulation in a lung cancer cell line SBC-3. 9245699 1997
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 AlteredExpression disease BEFREE Evidence for altered regulation of gamma-glutamylcysteine synthetase gene expression among cisplatin-sensitive and cisplatin-resistant human ovarian cancer cell lines. 7671249 1995
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 GeneticVariation disease BEFREE The prevalence of -588T polymorphism of the GCLM gene was significantly higher in DCM patients (n = 205) than in age- and sex-matched control subjects (n = 253) (36 vs. 19%, respectively, P < 0.001). 23129588 2013
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 AlteredExpression disease BEFREE When human SH-SY5Y neuroblastoma cells were treated with DBL or CAPE, the expression of endoplasmic reticulum (ER) stress-related genes such as HSPA5, HYOU1, DDIT3, and SEC61b increased to a larger extent in response to CAPE treatment, while that of antioxidant genes such as HMOX1, GCLM, and NQO1 increased to a larger extent in response to DBL treatment. 28681934 2018
CUI: C4277682
Disease: Chemical and Drug Induced Liver Injury
Chemical and Drug Induced Liver Injury 		0.300 Biomarker disease CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249 2015
CUI: C4279912
Disease: Chemically-Induced Liver Toxicity
Chemically-Induced Liver Toxicity 		0.300 Biomarker disease CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249 2015
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 AlteredExpression disease BEFREE Here, we present direct evidence that NF-kappa B activated by ionizing radiation induces the expression of gamma-glutamylcysteine synthetase (gamma-GCS), the rate limiting enzyme of GSH synthesis, using T98G human glioblastoma cells. 9626582 1998
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 AlteredExpression disease BEFREE When human SH-SY5Y neuroblastoma cells were treated with DBL or CAPE, the expression of endoplasmic reticulum (ER) stress-related genes such as HSPA5, HYOU1, DDIT3, and SEC61b increased to a larger extent in response to CAPE treatment, while that of antioxidant genes such as HMOX1, GCLM, and NQO1 increased to a larger extent in response to DBL treatment. 28681934 2018