Disease: Fatty Liver ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 GeneticVariation disease BEFREE We assessed the familial correlation of PRO-C3 concentration, the shared gene effects between PRO-C3 concentration and liver steatosis and fibrosis, and the association between PRO-C3 concentration and genetic variants in the patatin-like phospholipase domain-containing 3 (PNPLA3), transmembrane 6 superfamily member 2 (TM6SF2), membrane-bound O-acyltransferase domain-containing (MBOAT), and glucokinase regulator (CGKR) genes. 30859582 2019
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 GeneticVariation disease BEFREE PNPLA3 rs738409, GCKR rs780094 and TM6SF2 rs58542926 variants were independent risk factors of hepatic steatosis and elevated ALT levels. 29314568 2018
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 GeneticVariation disease BEFREE Metabolic effects of LYPLAL1 rs12137855-C were similar, but statistically less robust, to the effects of GCKR rs1260326-T. TM6SF2 rs58542926-T displayed opposite metabolic effects when compared with the fatty liver associations. 29648650 2018
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 GeneticVariation disease BEFREE The effect of the TM6SF2 E167K variant on liver steatosis and fibrosis in patients with chronic hepatitis C: a meta-analysis. 28839198 2017
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 GeneticVariation disease BEFREE Furthermore, the low-frequency E167K variant of TM6SF2 and rare mutations in APOB, which impair very low-density lipoproteins secretion, predispose to progressive fatty liver. 26409295 2016
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 GeneticVariation disease BEFREE Associations of the single nucleotide polymorphisms (SNP) PNPLA3 rs738409 and TM6SF2 rs58542926 with hepatic steatosis have recently been established. 26847197 2016
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 AlteredExpression disease BEFREE The T allele was associated with alterations in serum lipids and hepatic steatosis in all diseases and with reduced hepatic TM6SF2 and microsomal triglyceride transfer protein expression. 26822232 2016
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 Biomarker disease BEFREE Neither variant TM6SF2 nor MBOAT7 increased hepatic steatosis (all P>.05); however, the MBOAT7 polymorphism was associated with increased triglyceride, total cholesterol, low density lipoprotein, and serum glucose levels (all P<.05). 27576208 2016
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 GeneticVariation disease BEFREE Reduction of Caloric Intake Might Override the Prosteatotic Effects of the PNPLA3 p.I148M and TM6SF2 p.E167K Variants in Patients with Fatty Liver: Ultrasound-Based Prospective Study. 26745555 2016
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 GeneticVariation disease BEFREE The Glu167Lys (E167K) transmembrane 6 superfamily member 2 (TM6SF2) variant has been associated with liver steatosis, high alanine transaminase (ALT) levels and reduced plasma levels of liver-derived triglyceride-rich lipoproteins. 25893821 2016
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 GeneticVariation disease BEFREE This is the first demonstration that TM6SF2 E167K variant is an independent predictor of liver steatosis in chronic hepatitis C. 25581573 2015
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 GeneticVariation disease BEFREE Carriers of the TM6SF2 E167K variant have fatty liver as a result of reduced secretion of very-low-density lipoproteins (VLDLs). 25251399 2015