Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior 		0.010 Biomarker phenotype BEFREE Within these pathways, we identified four differentially methylated genes, namely, MSTN, IFNA13, ATP8B3, and GABBR2, that are involved in the onset of insulin resistance and adiposity, innate immune response, phospholipid translocation across cell membranes, and mechanisms of addiction to high fat diet, alcohol, and sweet taste. 31708974 2019
CUI: C0265780
Disease: Congenital absence of lung
Congenital absence of lung 		0.010 GeneticVariation disease BEFREE HPS was defined as an alveolar-arterial gradient ≥15 mm Hg (≥20 mm Hg if age >64 years), intrapulmonary vascular dilatation on CE, and absence of lung disease.The study sample included 363 patients. 30070715 2019
CUI: C0858600
Disease: Taste sweet
Taste sweet 		0.010 Biomarker phenotype BEFREE Within these pathways, we identified four differentially methylated genes, namely, MSTN, IFNA13, ATP8B3, and GABBR2, that are involved in the onset of insulin resistance and adiposity, innate immune response, phospholipid translocation across cell membranes, and mechanisms of addiction to high fat diet, alcohol, and sweet taste. 31708974 2019
CUI: C0155789
Disease: Bleeding esophageal varices
Bleeding esophageal varices 		0.010 Biomarker disease BEFREE Among 95 acute bleeding cases, a similar pattern was evident (EV 23 mm Hg vs GEV mm Hg 20 vs IGV 17 mm Hg; P < .001). 29352698 2018
CUI: C2609266
Disease: Gastroesophageal varices
Gastroesophageal varices 		0.010 Biomarker disease BEFREE Among 95 acute bleeding cases, a similar pattern was evident (EV 23 mm Hg vs GEV mm Hg 20 vs IGV 17 mm Hg; P < .001). 29352698 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE GABBR2 was significantly downregulated, along with the reduction of S6, p-p70 S6, and p-ERK1/2, demonstrating that GABBR2 may play an important role in EGFR signaling through the ERK1/2 pathway.<b>Conclusions:</b> We demonstrated that <i>GABBR2</i> gene might be a novel potential epigenetic treatment target with induction erlotinib treatment for stage IIIa (N2) <i>EGFR</i> 19 deletion lung adenocarcinoma.<i>Clin Cancer Res; 23(17); 5003-14.©2017 AACR</i>. 28490462 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 Biomarker disease BEFREE GABBR2 was significantly downregulated, along with the reduction of S6, p-p70 S6, and p-ERK1/2, demonstrating that GABBR2 may play an important role in EGFR signaling through the ERK1/2 pathway.<b>Conclusions:</b> We demonstrated that <i>GABBR2</i> gene might be a novel potential epigenetic treatment target with induction erlotinib treatment for stage IIIa (N2) <i>EGFR</i> 19 deletion lung adenocarcinoma.<i></i>. 28490462 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE GABBR2 was significantly downregulated, along with the reduction of S6, p-p70 S6, and p-ERK1/2, demonstrating that GABBR2 may play an important role in EGFR signaling through the ERK1/2 pathway.<b>Conclusions:</b> We demonstrated that <i>GABBR2</i> gene might be a novel potential epigenetic treatment target with induction erlotinib treatment for stage IIIa (N2) <i>EGFR</i> 19 deletion lung adenocarcinoma.<i>Clin Cancer Res; 23(17); 5003-14.©2017 AACR</i>. 28490462 2017
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.010 GeneticVariation disease BEFREE A subsequent uncorrected exploratory analysis revealed associations between GABBR2, GABRA2 and DRD2 variants with TMS measures of corticospinal excitability and cortical inhibition in HD, as well as with age at onset. 27033668 2016
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.010 GeneticVariation group BEFREE Variants were also detected in five novel NDD candidate genes (26%): we identified de novo variants in the RHOBTB2, SMARCA1 and GABBR2 genes; a homozygous variant in EIF4G1; compound heterozygous variant in HTT. 26740508 2016
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		0.010 Biomarker disease BEFREE We investigated changes in the mRNA expression of the GABA(B) receptor subtypes GABA(B)-R1 and GABA(B)-R2 and of GABA(B) receptor binding in the hippocampus of patients with temporal lobe epilepsy (TLE) compared with post-mortem controls. 14625043 2003
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		0.010 AlteredExpression disease LHGDN We investigated changes in the mRNA expression of the GABA(B) receptor subtypes GABA(B)-R1 and GABA(B)-R2 and of GABA(B) receptor binding in the hippocampus of patients with temporal lobe epilepsy (TLE) compared with post-mortem controls. 14625043 2003
CUI: C0020071
Disease: Hereditary Sensory Autonomic Neuropathy, Type 1
Hereditary Sensory Autonomic Neuropathy, Type 1 		0.010 Biomarker disease BEFREE Gene GPR 51 was localized by radiation hybrid mapping to chromosome 9, 4.81 cR from the WI-8684 marker, and proximal to the hereditary sensory neuropathy type 1 locus. 10087195 1999
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		0.030 Biomarker disease BEFREE Our results provided confirmation of the previous findings that DRD2, DRD3, DDC, CHRNB3, GABBR2 and CHRNA4 are associated with nicotine dependence. 22309839 2012
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		0.030 Biomarker disease BEFREE Finally, we demonstrated the presence of epistasis between GABBR1 and GABBR2 for developing ND. 19763258 2009
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		0.030 Biomarker disease BEFREE Our study did not find evidence for an association between GABBR2 gene and nicotine dependence. 18482426 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of response to tumour necrosis factor inhibitor therapy in rheumatoid arthritis. 30166627 2018
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C3894553
Disease: response to simvastatin
response to simvastatin 		0.100 GeneticVariation phenotype GWASCAT Ancestry and other genetic associations with plasma PCSK9 response to simvastatin. 25089948 2014
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. 23726366 2013
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. 23726366 2013
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT). 21738479 2011
CUI: C0202252
Disease: VITAMIN B12 MEASUREMENT
VITAMIN B12 MEASUREMENT 		0.100 GeneticVariation phenotype GWASDB Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. 19744961 2009
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. 19744961 2009