Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE Overall, these results suggest that rs738409 exerts a marked influence on hepatocarcinogenesis in patients with cirrhosis of European descent and provide a strong argument for performing further mechanistic studies to better understand the role of PNPLA3 in HCC development. 24114809 2014
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 Biomarker disease BEFREE Among nine studies, with 2,937 patients, PNPLA3 was associated with increased risk of HCC in patients with cirrhosis (OR 1.40, 95% CI 1.12-1.75). 24445574 2014
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease GWASCAT Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan. 23535911 2013
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE Homozygous carriers of the PNPLA3 variant are prone to develop cirrhosis in the absence of other risk factors such as alcohol or viral hepatitis. 24222094 2013
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE According to ultrasound examinations, no association between PNPLA3 rs738409 genotype and fatty change of the liver or hepatic cirrhosis was found in Japanese patients infected with HCV. 24349054 2013
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE In ALD&NAFLD patients, the PNPLA3 148M allele was associated with younger age, shorter history of cirrhosis, less advanced (Child A) cirrhosis at HCC diagnosis, and lower HCC differentiation grade (p<0.05). 24155878 2013
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE PNPLA3 rs738409 genotypes were assessed in 279 patients with alcoholic- and 253 patients with HCV-related cirrhosis. 23069476 2013
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE In addition, 1 patient with NAFLD-related cirrhosis was compound heterozygous for rare damaging mutations in PNPLA3. 24081230 2013
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE The PNPLA3 GG genotype was significantly associated with underlying cirrhosis in HCC patients (OR = 2.48; 95% CI, 1.05-5.87). 23776098 2013
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE The -1195GG genotype of single nucleotide polymorphism (SNP) in COX-2 promoter was associated with low platelet counts in patients with chronic hepatitis C. Polymorphism of patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene (rs738409 C>G) have been reported to be associated with cirrhosis, and the major genotype of SNPs near interleukin (IL)28B are related to viral clearance. 22863264 2012
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE The association of the PNPLA3 I148M protein variant (p.I148M) with steatosis, fibrosis stage, and cirrhosis was evaluated by logistic regression analysis. 22719190 2012
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE Previous studies of the PNPLA3 I148M sequence variant in HCV infected individuals have reported an association between this variant and prevalence of steatosis, fibrosis, and cirrhosis. 22978414 2012
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE Numerous studies in humans link a nonsynonymous genetic polymorphism (I148M) in adiponutrin (ADPN) to various forms of fatty liver disease and liver cirrhosis. 22560221 2012
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE Whether the PNPLA3 rs738409 polymorphism could be a risk factor for the development of hepatocellular carcinoma (HCC) in cirrhosis patients is unknown. 21745286 2011
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE Of note, the PNPLA3 risk variant advances fibrosis in the total cohort as well as in the subgroups of patients with viral hepatitis and non-viral liver diseases and contributes 16% of the total cirrhosis risk. 21168459 2011
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE Common polymorphism in the PNPLA3/adiponutrin gene confers higher risk of cirrhosis and liver damage in alcoholic liver disease. 21334404 2011
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE The rs738409 PNPLA3 genotype influences steatosis development in CHC and is independently associated with cirrhosis and other steatosis-related clinical outcomes, such as lack of response to antiviral treatment and possibly HCC. 21319195 2011
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE We compared distributions of PNPLA3 genotypes in 80 and 81 Caucasian patients with alcoholic and hepatitis C virus (HCV)-associated HCC to 80 and 81 age- and sex-matched patients with alcohol-related and HCV-related cirrhosis without HCC, respectively. 22087248 2011
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE The population attributable risk of cirrhosis in alcoholic carriers of allele PNPLA3 rs738409(G) was estimated at 26.6%. 21254164 2011