rs58542926, TM6SF2

N. diseases: 42
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of liver
CUI: C0345904
Disease: Malignant neoplasm of liver
0.010 GeneticVariation BEFREE To assess the association of TM6SF2 rs58542926 T/C gene polymorphism with liver cancer, we performed the current meta-analysis. 31752753 2019
Liver and Intrahepatic Biliary Tract Carcinoma
0.010 GeneticVariation BEFREE To assess the association of TM6SF2 rs58542926 T/C gene polymorphism with liver cancer, we performed the current meta-analysis. 31752753 2019
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
0.010 GeneticVariation BEFREE We demonstrated the significant association between TM6SF2 rs58542926 polymorphism and the risk of NAFLD and NAFLD&CRA in a Chinese Han population. 30727943 2019
Adult Liver Carcinoma
CUI: C0220630
Disease: Adult Liver Carcinoma
0.010 GeneticVariation BEFREE To assess the association of TM6SF2 rs58542926 T/C gene polymorphism with liver cancer, we performed the current meta-analysis. 31752753 2019
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.010 GeneticVariation BEFREE The adiponutrin (PNPLA3) p.I148M and transmembrane 6 superfamily member 2 (TM6SF2) p.E167K variants represent major genetic risk factors for progressive liver injury in nonalcoholic fatty liver disease (NAFLD), alcoholic liver disease (ALD) and chronic viral hepatitis. 30161167 2018
Chronic viral hepatitis
CUI: C0276623
Disease: Chronic viral hepatitis
0.010 GeneticVariation BEFREE The adiponutrin (PNPLA3) p.I148M and transmembrane 6 superfamily member 2 (TM6SF2) p.E167K variants represent major genetic risk factors for progressive liver injury in nonalcoholic fatty liver disease (NAFLD), alcoholic liver disease (ALD) and chronic viral hepatitis. 30161167 2018
Primary sclerosing cholangitis
CUI: C0566602
Disease: Primary sclerosing cholangitis
0.010 GeneticVariation BEFREE PNPLA3 p.I148M and TM6SF2 p.E167K variants do not predispose to liver injury in cholestatic liver diseases: A prospective analysis of 178 patients with PSC. 30161167 2018
Posterior subcapsular cataract
CUI: C0858617
Disease: Posterior subcapsular cataract
0.010 GeneticVariation BEFREE PNPLA3 p.I148M and TM6SF2 p.E167K variants do not predispose to liver injury in cholestatic liver diseases: A prospective analysis of 178 patients with PSC. 30161167 2018
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.010 GeneticVariation BEFREE A glutamate-to-lysine variant (rs58542926-T) in transmembrane 6 superfamily member 2 (<i>TM6SF2</i>) is associated with increased fatty liver disease and diabetes in conjunction with decreased cardiovascular disease risk. 28539357 2017
Diabetes
CUI: C0011847
Disease: Diabetes
0.010 GeneticVariation BEFREE A glutamate-to-lysine variant (rs58542926-T) in transmembrane 6 superfamily member 2 (<i>TM6SF2</i>) is associated with increased fatty liver disease and diabetes in conjunction with decreased cardiovascular disease risk. 28539357 2017
HCV coinfection
CUI: C1698259
Disease: HCV coinfection
0.010 GeneticVariation BEFREE In HIV/HCV coinfection the TM6SF2 E167K variant is an independent predictor of severe fibrosis, but appears to be independently associated with severe steatosis only for patients with a non-3 HCV genotype. 27784963 2016
Human immunodeficiency virus (HIV) II infection category B1
0.010 GeneticVariation BEFREE In HIV/HCV coinfection the TM6SF2 E167K variant is an independent predictor of severe fibrosis, but appears to be independently associated with severe steatosis only for patients with a non-3 HCV genotype. 27784963 2016
Hepatitis B, Chronic
CUI: C0524909
Disease: Hepatitis B, Chronic
0.010 GeneticVariation BEFREE The TM6SF2 E167K substitution promotes steatosis and lipid abnormalities in part by altering TM6SF2 and microsomal triglyceride transfer protein expression and differentially impacts CHC and chronic hepatitis B viral load, while effects on fibrosis are marginal.(Hepatology 2016;64:34-46). 26822232 2016
Liver Cirrhosis, Alcoholic
CUI: C0023891
Disease: Liver Cirrhosis, Alcoholic
0.010 GeneticVariation BEFREE PNPLA3 rs738409 and TM6SF2 rs58542926 variants increase the risk of hepatocellular carcinoma in alcoholic cirrhosis. 26493626 2016
Insulin resistance syndrome
CUI: C3714619
Disease: Insulin resistance syndrome
0.010 GeneticVariation BEFREE The I148M variant in PNPLA3 and the E167K variant in TM6SF2 are both associated with increased liver fat content, but not features of the metabolic/insulin resistance syndrome. 27432073 2016
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
0.010 GeneticVariation BEFREE We conclude that the E167K variant in TM6SF2 is associated with a distinct subtype of NAFLD, characterized by preserved insulin sensitivity with regard to lipolysis, hepatic glucose production and lack of hypertriglyceridemia despite a clearly increased LFAT content. 25457209 2015
Dyslipidemias
CUI: C0242339
Disease: Dyslipidemias
0.010 GeneticVariation BEFREE A common non-synonymous polymorphism, E167K, in transmembrane six superfamily member 2 (TM6SF2) gene has been recently associated with an increased hepatic triglyceride content, dyslipidemia and liver fibrosis in NAFLD patients. 25581573 2015
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.010 GeneticVariation BEFREE One variant in TM6SF2 (encoding p.Glu167Lys), residing in a known genome-wide association study locus for lipid traits, influences total cholesterol levels and is associated with myocardial infarction. 24633158 2014
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
0.020 GeneticVariation BEFREE SNPs in genes linked to HCC (DEPDC5, GRIK1, KIF1B, STAT4, MICA, DLC1, DDX18) or to liver damage (PNPLA3-rs738409, TM6SF2-rs58542926) in GWAS were genotyped in discovery cohorts including 1,020 HCC, 2,021 controls with chronic liver disease and 2,484 healthy individuals and replication was performed in prospective cohorts of cirrhotic patients with alcoholic liver disease (ALD, n = 249) and hepatitis C (n = 268). 30289982 2019
Chronic liver disease
CUI: C0341439
Disease: Chronic liver disease
0.020 GeneticVariation BEFREE These results suggested that TM6SF2 rs58542926 could be used to identify individuals at higher susceptibility to chronic liver disease, especially for HCC, cirrhosis, ALD, and NAFLD. 31309745 2019
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
0.020 GeneticVariation BEFREE T allele of TM6SF2 rs58542926 was more prevalent in NBNC-HCC (24%) than in healthy controls (8%), HBV-HCC (10%) and HCV-HCC (12%) (P < 0.001). 30506232 2019
Chronic liver disease
CUI: C0341439
Disease: Chronic liver disease
0.020 GeneticVariation BEFREE SNPs in genes linked to HCC (DEPDC5, GRIK1, KIF1B, STAT4, MICA, DLC1, DDX18) or to liver damage (PNPLA3-rs738409, TM6SF2-rs58542926) in GWAS were genotyped in discovery cohorts including 1,020 HCC, 2,021 controls with chronic liver disease and 2,484 healthy individuals and replication was performed in prospective cohorts of cirrhotic patients with alcoholic liver disease (ALD, n = 249) and hepatitis C (n = 268). 30289982 2019
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
0.020 GeneticVariation BEFREE The adiponutrin (PNPLA3) p.I148M and transmembrane 6 superfamily member 2 (TM6SF2) p.E167K variants represent major genetic risk factors for progressive liver injury in nonalcoholic fatty liver disease (NAFLD), alcoholic liver disease (ALD) and chronic viral hepatitis. 30161167 2018
Nonalcoholic Steatohepatitis
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
0.020 GeneticVariation BEFREE The rs738409 and rs58542926 variants, but not rs641738, were associated not only with non-alcoholic steatohepatitis (NASH) (odds ratio [OR], 2.00; 95% confidence interval [CI], 1.46-2.73 and OR, 1.91; 95% CI, 1.04-3.51) but also with significant fibrosis (≥ F2) (OR, 1.53; 95% CI, 1.11-2.11 and OR, 1.88; 95% CI, 1.02-3.46) in NAFLD, even after adjustment for metabolic risk factors. 29193269 2018
Pseudohyperkalemia Cardiff
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
0.020 GeneticVariation BEFREE The TM6SF2 E167K substitution promotes steatosis and lipid abnormalities in part by altering TM6SF2 and microsomal triglyceride transfer protein expression and differentially impacts CHC and chronic hepatitis B viral load, while effects on fibrosis are marginal.(Hepatology 2016;64:34-46). 26822232 2016