GNB3, G protein subunit beta 3, 2784

N. diseases: 192; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Night blindness, congenital stationary
0.510 GermlineCausalMutation disease ORPHANET Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. 27063057 2016
Night blindness, congenital stationary
0.510 Biomarker disease BEFREE Homozygosity mapping ruled out most known CSNB candidates as well as CACNA2D4 and GNB3. 26368928 2015
Night blindness, congenital stationary
0.510 Biomarker disease CTD_human
Diabetes Mellitus, Non-Insulin-Dependent
0.400 GeneticVariation disease BEFREE Our study gave a comprehensive insight into functional interaction between GNB3 and eNOS gene polymorphisms and suggests that the eNOS G894T and T-786C variants are strong predisposing factors of VED susceptibility within men with type 2 diabetes. 30101547 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 GeneticVariation group BEFREE In our study, there was a significant association between the C825T polymorphism of the GNB3 gene and the occurrence of hypertension (odds ratio 1.275; 95% confidence interval 1.042-1.559; p=0.018) in the dominant model, after multivariate analysis. 29853161 2018
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE To examine the associations of two obesity-associated genes, FTO (rs9939609) and GNB3 (rs5443) single nucleotide polymorphisms (SNPs), with early pregnancy body mass index, gestational weight gain, and postpartum weight retention. 29469022 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.400 GeneticVariation disease BEFREE GNB3 (C825T) polymorphism is not associated with T2DM. 28602143 2017
Diabetes Mellitus, Non-Insulin-Dependent
0.400 Biomarker disease BEFREE GNB3-T/+ mice have elevated fasting plasma glucose, insulin, and C-peptide, as well as glucose intolerance, indicating type 2 diabetes. 29206867 2017
Diabetes Mellitus, Non-Insulin-Dependent
0.400 Biomarker disease BEFREE FTO (OR = 1.71; CI<sub>95 %</sub> = 1.14-2.57; p = 0.008) and APOB (OR = 0.31; CI<sub>95 %</sub> = 0.14-0.72; p = 0.004) result is statistically associated to high blood pressure and FTO (OR = 2.0; CI<sub>95 %</sub> = 1.3-3.1; p = 0.001), GNB3 (OR = 2.69; CI<sub>95 %</sub> = 1.0-7.2; p = 0.04), IFI30 (OR = 2.0; CI<sub>95 %</sub> = 1.16-3.6; p = 0.01), and MC4R (OR = 1.81; CI<sub>95 %</sub> = 1.13-2.9; p = 0.01) to type 2 diabetes (T2D). 28035522 2017
CUI: C0028754
Disease: Obesity
Obesity
0.400 AlteredExpression disease BEFREE To test the hypothesis that GNB3 overexpression causes obesity, we created bacterial artificial chromosome (BAC) transgenic mice that carry an extra copy of the human GNB3 risk allele. 29206867 2017
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.400 GeneticVariation disease BEFREE In summary, the present meta-analysis indicated the GNB3 C825T polymorphism is related to increased EH exclusively in Caucasians. 28540932 2017
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.400 GeneticVariation disease BEFREE In the current study, 729 patients (CC, n = 332; CT, n = 313; TT, n = 84) with essential hypertension were genotyped for C825T polymorphism of the GNB3 gene and followed 8 years for major adverse cardiovascular events (MACEs) which include stroke, the onset of coronary artery disease (CAD), and all-cause death. 28067546 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 GeneticVariation group BEFREE In addition, GNB3 genotypes could be associated with clinical worsening in pulmonary hypertension (PH) treated with PDE-5I. 26821322 2016
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.400 GeneticVariation disease BEFREE The GNB3 splice variant rs5443" genes_norm="2784">C825T (rs5443) is associated with risk for essential hypertension (EH) and efficacy of therapeutic drugs targeting GPCRs. 26712426 2016
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.400 Biomarker disease BEFREE Our results demonstrate the potential use of a GNB3-specific antisense morpholino, as a pharmacogenetic therapy for essential hypertension. 27028457 2016
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H
0.400 GeneticVariation disease UNIPROT Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. 27063057 2016
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.400 GeneticVariation disease BEFREE Essential hypertension patients were genotyped for 11 polymorphisms of essential hypertension susceptibility genes including ADD1 (rs4961), GNB3 (rs5443, rs16932941), NOS3 (rs1799983, rs2070744), ACE (rs5186), AGTR1 (rs5186), AGT (rs699, rs4762), MR (rs5534), and TGFB1 (rs1800471). 26335431 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 GeneticVariation group BEFREE The C825T polymorphism of the gene encoding the human G protein beta-3 subunit (GNB3) is associated with hypertension and obesity. 25463071 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 Biomarker group BEFREE Polymorphisms in Gβ3 (GNB3) are associated with many human disorders (e.g. hypertension, diabetes and obesity) but the role of GNB3 in these pathogeneses remains unclear. 25093805 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 GeneticVariation group BEFREE We conclude that the previous cumulative evidence does not support the proposal that haplotypes formed by common GNB3 polymorphisms might contribute either to the development of hypertension and obesity, or to the variation in the SBP, DBP and BMI. 24477587 2014
CUI: C0028754
Disease: Obesity
Obesity
0.400 Biomarker disease BEFREE Obesity is known to be influenced by a number of genes, including the β3 subunit of G protein (GNB3), β3-adrenergic receptor (ADRB3), uncoupling protein 2 (UCP2), and peroxisome proliferator activated receptor gamma (PPARγ). 24827746 2014
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE We investigated the associations between the GNB3 C825T polymorphism and obesity-related metabolic risk factors among Korean obese women. 25280441 2014
CUI: C0028754
Disease: Obesity
Obesity
0.400 Biomarker disease BEFREE Polymorphisms in Gβ3 (GNB3) are associated with many human disorders (e.g. hypertension, diabetes and obesity) but the role of GNB3 in these pathogeneses remains unclear. 25093805 2014
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE Sensitivity analyses excluding studies violating Hardy-Weinberg expectations, considering gender-specific effects or more extreme phenotypes (e.g. obesity only) as well as a fixed-effects "pooled" analysis also did not disclose a significant influence of GNB3 haplotypes on cardiovascular phenotypes. 24477587 2014
CUI: C0028754
Disease: Obesity
Obesity
0.400 GeneticVariation disease BEFREE The C825T polymorphism of the gene encoding the human G protein beta-3 subunit (GNB3) is associated with hypertension and obesity. 25463071 2014