Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
CUI: C0489786
Disease: Height
Height
0.100 GeneticVariation phenotype GWASDB Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 Biomarker phenotype BEFREE Cell migration and invasion were also inhibited in GFPT2 knockdown SKOV3 and HEY cells. 31685298 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 AlteredExpression phenotype BEFREE Depletion of GFPT2 expression in NSCLC highlights its importance in regulating cell migration and invasion during EMT. 30885209 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.020 AlteredExpression disease BEFREE Glutamine fructose-6-phosphate amidotransferase (GFAT) gene expression and activity in patients with type 2 diabetes: inter-relationships with hyperglycaemia and oxidative stress. 17574229 2007
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation disease BEFREE We tested the hypothesis that GFPT2 sequence variation contributed to the susceptibility to type 2 diabetes mellitus (T2DM) and diabetic nephropathy in Caucasian and African-American individuals. 14764791 2004
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 AlteredExpression disease BEFREE Depletion of GFPT2 expression in NSCLC highlights its importance in regulating cell migration and invasion during EMT. 30885209 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 Biomarker phenotype BEFREE Consistent with GFPT2 promoting cancer progression, we find that elevated GFPT2 expression correlates with poor clinical outcome in NSCLC. 30885209 2019
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus
0.010 GeneticVariation group BEFREE Key findings are that (a) low doses of Nasonia venom elevate sorbitol levels in human renal mesangial cells (HRMCs) without changing glucose or fructose levels; (b) venom is a much more potent inducer of sorbitol elevation than glucose; (c) low venom doses significantly alter expression of genes involved in sterol and alcohol metabolism, transcriptional regulation, and chemical/stimulus response; (d) although venom treatment does not alter expression of the key sorbitol pathway gene aldose reductase (AR); (e) venom elevates expression of a related gene implicated in diabetes complications (AKR1C3) as well as the fructose metabolic gene (GFPT2). 30831148 2019
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia
0.010 GeneticVariation disease BEFREE Homozygosity of the GFPT2 p.Arg366Gln mutation was associated with increased levels of reactive oxygen species (ROS) in spermatozoa and decreased sperm motility. 30849544 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.010 AlteredExpression disease BEFREE The results showed that GFPT2 was over-expressed in SOC tissues, and positive correlations with advanced stage (FIGO III/IV), suboptimal removal rate and poor survival were observed in 90 SOC patients. 31685298 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 AlteredExpression disease BEFREE The results showed that GFPT2 was over-expressed in SOC tissues, and positive correlations with advanced stage (FIGO III/IV), suboptimal removal rate and poor survival were observed in 90 SOC patients. 31685298 2019
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.010 AlteredExpression disease BEFREE The results showed that GFPT2 was over-expressed in SOC tissues, and positive correlations with advanced stage (FIGO III/IV), suboptimal removal rate and poor survival were observed in 90 SOC patients. 31685298 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 AlteredExpression group BEFREE In general, the rate limiting enzyme of HBP, GFAT, is overexpressed in many cancer types that present EMT features as well as aberrant glycosylation. 28722313 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 AlteredExpression group BEFREE In general, the rate limiting enzyme of HBP, GFAT, is overexpressed in many cancer types that present EMT features as well as aberrant glycosylation. 28722313 2018
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.010 AlteredExpression disease BEFREE OGT, OGA, and GFAT2 protein and/or mRNA levels were increased by pressure overload, while neither was regulated by myocardial infarction. 22128088 2012
CUI: C0403447
Disease: Chronic Kidney Insufficiency
Chronic Kidney Insufficiency
0.010 GeneticVariation disease BEFREE To determine association of nine single nucleotide polymorphisms (SNPs) in ADP ribosyltransferase-1 (ADPRT1), aldo-keto reductase family 1 member B1 (AKR1B1), receptor for advanced glycation end-products (RAGE), glutamine:fructose-6-phosphate amidotransferase-2 (GFPT2), and plasminogen activator inhibitor-1 (PAI-1) genes with chronic renal insufficiency (CRI) among Asian Indians with type 2 diabetes; and to identify epistatic interactionss between genes from the present study and those from renin-angiotensin-aldosterone system (RAAS), and chemokine-cytokine, dopaminergic and oxidative stress pathways (previously investigated using the same sample set). 20353610 2010
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.010 GeneticVariation group BEFREE To determine association of nine single nucleotide polymorphisms (SNPs) in ADP ribosyltransferase-1 (ADPRT1), aldo-keto reductase family 1 member B1 (AKR1B1), receptor for advanced glycation end-products (RAGE), glutamine:fructose-6-phosphate amidotransferase-2 (GFPT2), and plasminogen activator inhibitor-1 (PAI-1) genes with chronic renal insufficiency (CRI) among Asian Indians with type 2 diabetes; and to identify epistatic interactionss between genes from the present study and those from renin-angiotensin-aldosterone system (RAAS), and chemokine-cytokine, dopaminergic and oxidative stress pathways (previously investigated using the same sample set). 20353610 2010
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.010 AlteredExpression disease BEFREE Glutamine fructose-6-phosphate amidotransferase (GFAT) gene expression and activity in patients with type 2 diabetes: inter-relationships with hyperglycaemia and oxidative stress. 17574229 2007
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.010 GeneticVariation disease BEFREE We tested the hypothesis that GFPT2 sequence variation contributed to the susceptibility to type 2 diabetes mellitus (T2DM) and diabetic nephropathy in Caucasian and African-American individuals. 14764791 2004