rs11066280, HECTD4

N. diseases: 27
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.800 GeneticVariation GWASDB A genome-wide association study of a coronary artery disease risk variant. 23364394 2013
High density lipoprotein measurement
0.700 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
Major Depressive Disorder
CUI: C1269683
Disease: Major Depressive Disorder
0.700 GeneticVariation GWASDB Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. 23377640 2013
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.710 GeneticVariation BEFREE Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs2072134 (OAS3), rs2093395 (TREML2), and rs17249754 (ATP2B1), were found to be associated with hypertension mostly in men (P = 4.76 × 10(-14) to 4.46 × 10(-7) in the joint analysis); three SNPs (rs11066280, rs12229654, and rs3782889) remained significant after Bonferroni correction in an independent population. 24142389 2014
Triglycerides measurement
CUI: C0202236
Disease: Triglycerides measurement
0.700 GeneticVariation GWASCAT Genetic Susceptibility to Lipid Levels and Lipid Change Over Time and Risk of Incident Hyperlipidemia in Chinese Populations. 26582766 2016
Esophageal Neoplasms
CUI: C0014859
Disease: Esophageal Neoplasms
0.800 GeneticVariation GWASCAT Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. 21642993 2011
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
0.700 GeneticVariation GWASDB Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. 21642993 2011
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.710 GeneticVariation GWASCAT Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. 25249183 2015
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
0.700 GeneticVariation GWASCAT Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. 25249183 2015
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
0.700 GeneticVariation GWASCAT Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. 25249183 2015
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.800 GeneticVariation GWASDB Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. 22751097 2012
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.800 GeneticVariation GWASCAT Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. 22751097 2012
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.800 GeneticVariation GWASDB Genome-wide association study of coronary artery disease in the Japanese. 21971053 2012
Alcohol consumption
CUI: C0001948
Disease: Alcohol consumption
0.700 GeneticVariation GWASDB Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population. 23555315 2013
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE However, even in never-drinkers, minor allele homozygote strongly influenced T2D risk reduction (rs2074356 for AA: HR = 0.35, 95% CI = 0.14-0.90, and p-trend = 0.0035 in men and HR = 0.34, 95% CI = 0.13-0.93, and p-trend = 0.2348 in women; rs11066280 for AA: HR = 0.36, 95% CI = 0.16-0.82, and p-trend = 0.0014 in men and HR = 0.39, 95% CI = 0.16-0.95, and p-trend = 0.3790 in women), while alcohol consumption did not influence the risk of T2D within each genotype. rs2074356 and rs11066280 in or near C12orf51, which is related to alcohol drinking behavior, may longitudinally decrease the risk of T2D, but not through regulation of alcohol consumption. 26891264 2016
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.010 GeneticVariation BEFREE However, in the stratification analysis of histology, we found that the rs11066280 TA/AA genotypes were associated with a poor survival of intestinal-type gastric cancer (log-rank P=0.041, hazard ratio [HR]=1.40, 95% confidence interval [CI]=1.02-1.93), Moreover, this hazardous effect was more prominent among patients with tumor size>5cm, no distant metastasis, chemotherapy and drinking. 25661349 2015
Uric acid measurement (procedure)
CUI: C0202239
Disease: Uric acid measurement (procedure)
0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.700 GeneticVariation GWASCAT In the discovery phase, SNPs from chromosome 12, including rs11066280, rs2074356, and rs12229654, were associated with MetS (p < 5 × 10(-6)), and rs11066280 satisfied the Bonferroni-corrected cutoff (unadjusted p < 1.38 × 10(-7), Bonferroni-adjusted p < 0.05). 25705158 2014
Serum Alanine Aminotransferase Measurement
0.700 GeneticVariation GWASCAT Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. 21909109 2011
Serum albumin measurement
CUI: C0523465
Disease: Serum albumin measurement
0.700 GeneticVariation GWASDB Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. 21909109 2011
Alanine aminotransferase measurement
0.700 GeneticVariation GWASCAT Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. 21909109 2011
Blood Pressure
CUI: C0005823
Disease: Blood Pressure
0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. 21572416 2011
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. 21572416 2011
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. 21572416 2011
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE Recent genome-wide association study (GWAS) on esophageal squamous-cell carcinoma (ESCC) among Chinese population has identified two novel single nucleotide polymorphisms (SNPs) rs11066280 and rs2074356 on C12orf51 gene. 25661349 2015