Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE The presence of the TM6SF2 c.499A allele in the donor (p=0.014), the PNPLA3 c.444G allele in the donor (p<0.001), posttransplant BMI (p<0.001) and serum triglycerides (p=0.047) independently predicted increased liver fat content on multivariable analysis whereas noncirrhotic liver disease as an indication for liver transplantation was associated with lower risk of steatosis (p=0.003). 31356578 2020
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE Increased liver disease mortality was associated with PNPLA3 I148M (hazard ratio (HR), 2.9; 95% confidence interval (CI), 0.9-9.8) and 148M genotypes (HR, 18.2; 95% CI, 3.5-93.8), an intermediate (HR, 3.8; 95% CI, 1.3-10.7) or high (HR, 12.6; 95% CI, 4.3-36.3) NAFLD liver fat score, and a high NAFLD fibrosis score (HR, 12.2; 95% CI, 1.9-80.6) adjusted for risk factors. 31705824 2020
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 Biomarker group BEFREE Defining the precise role of PNPLA3 in the liver lipid metabolism, in order to develop novel therapies for the treatment of liver disease, will be the key of future research. 29935383 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE A second ABC transporter, the hepatic phosphatidylcholine translocase ABCB4, increases the risk for gallstone disease, gallbladder cancer and chronic liver diseases in general, whereas the common PNPLA3 risk variant p.I148M decreases gallstone risk. 30608254 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE PNPLA3 and TM6SF2 variants as risk factors of hepatocellular carcinoma across various etiologies and severity of underlying liver diseases. 30289982 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE We aimed to assess the prevalence of patatin-like phospholipase domain-containing 3 protein (PNPLA3) gene rs738409 C > G polymorphism in Brazilian individuals with type 2 diabetes and to investigate its association with liver disease severity, diabetic chronic degenerative complications, and metabolic control. 31377187 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE The common patatin-like phospholipase domain-containing protein 3 (PNPLA3) variant I148M predisposes to nonalcoholic liver disease but not its metabolic sequelae. 31434800 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group 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
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE The prevalence of possession of both PNPLA3 and GCKR variant alleles combined was significantly higher in at-risk patients with clinically significant liver disease indicated by serum PIIINP above 11 ng/mL (P = .014). 29493856 2018
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE The Expression of PNPLA3 Polymorphism could be the Key for Severe Liver Disease in NAFLD in Hispanic Population. 29055919 2018
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 Biomarker group BEFREE In a few cases (e.g., patatin-like phospholipase domain-containing 3/adiponutrin), steatosis carries a high risk of both liver disease and cardiovascular morbidity/mortality; in other cases (e.g., transmembrane 6 superfamily 2 human gene), dissociation has been observed between the increased risk of liver disease versus cardiovascular disease. 27548720 2017
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE These data indicate that PNPLA3 is required for HSC activation and that its genetic variant I148M potentiates the profibrogenic features of HSCs, providing a molecular mechanism for the higher risk of progression and severity of liver diseases conferred to patients carrying the I148M variant.(Hepatology 2017;65:1875-1890). 28073161 2017
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 Biomarker group BEFREE Patatin-like phospholipase domain-containing protein 3 (PNPLA3): A potential role in the association between liver disease and bipolar disorder. 27889599 2017
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE Several recent studies showed that the genetic polymorphisms in the PNPLA3 region (rs738408, rs738409, rs2294918, rs2294919 and rs2281135) were with related to various kinds of liver diseases. 28617615 2017
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE Lean patients with rs738409 C>G in PNPLA3 should be monitored for liver disease progression; studies including large series of patients with lean NAFLD will clarify the possible role of TM6SF2 polymorphisms. 28554682 2017
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE This review will explore the bidirectional relationship between metabolic syndrome and NAFLD, and will also discuss recent insights from studies of PNPLA3 and TM6SF2 genotypes that may give insight into how and why metabolic syndrome features and liver disease are linked in NAFLD. 26978356 2016
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE Impact of patatin-like phospholipase domain-containing 3 gene polymorphism (rs738409) on severity of liver disease in HIV/hepatitis C virus-coinfected patients. 26760234 2016
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE APOC3 rs2070666 Is Associated with the Hepatic Steatosis Independently of PNPLA3 rs738409 in Chinese Han Patients with Nonalcoholic Fatty Liver Diseases. 27059980 2016
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 Biomarker group BEFREE This review describes the impact of genetic variants of interleukin 28B (IL28B; also known as interferon-lambda 3), inosine triphosphate pyrophosphatase (ITPA) and patatin-like phospholipase domain-containing 3 (PNPLA3) on therapeutic outcome and liver disease severity in HCV-infected patients. 26250055 2015
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE Genetic variation in both patatin-like phospholipase domain-containing protein-3 (PNPLA3) (I148M) and the transmembrane 6 superfamily member 2 protein (TM6SF2) (E167K) influences severity of liver disease, and serum triglyceride concentrations in non-alcoholic fatty liver disease (NAFLD), but whether either genotype influences the responses to treatments is uncertain. 26272871 2015
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE Genetic variants of patatin-like phospholipase domain-containing 3 (PNPLA3) and diabetes are associated with liver disease severity, in patients with chronic hepatitis C (CHC) infection. 25457210 2015
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 Biomarker group BEFREE Recent advances include the identification of PNPLA3 as a modifier of disease outcome across the full spectrum of NAFLD from steatosis to advanced fibrosis and hepatocellular carcinoma; and the discovery of TM6SF2 as a potential "master regulator" of metabolic syndrome outcome, determining not only risk of advanced liver disease, but also cardiovascular disease outcomes. 26378644 2015
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE Association of PNPLA3 Polymorphism with Hepatocellular Carcinoma Development and Prognosis in Viral and Non-Viral Chronic Liver Diseases. 26745088 2015
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE The presence of a PNPLA3 risk allele had no independent impact on liver disease or virological response rates to PEGIFN/RBV therapy in our cohort of HIV/HCV coinfected patients. 26599080 2015
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.100 GeneticVariation group BEFREE The human patatin-like phospholipase domain-containing-3 (PNPLA3) gene rs738409 C>G polymorphism is associated with several types of liver disease. 25378656 2015