rs2896019, PNPLA3

N. diseases: 10
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.810 GeneticVariation GWASCAT Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers. 29385134 2018
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.810 GeneticVariation BEFREE Haplotype association analysis showed that GT haplotype conferred a statistically significant increased risk for NAFLD (OR = 1.49; 95% CI = 1.20-1.84, P < 0.01).These results suggest that PNPLA3 rs2896019 and rs3810622 polymorphisms significantly contribute to increased NAFLD risk in Han Chinese population. 27537584 2016
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.810 GeneticVariation 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
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.810 GeneticVariation GWASDB 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
Nonalcoholic Steatohepatitis
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
0.710 GeneticVariation GWASCAT Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers. 29385134 2018
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.710 GeneticVariation GWASCAT Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers. 29385134 2018
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
0.710 GeneticVariation BEFREE In this study, we report the association of the rs738407, rs738409, and rs2896019 variants of the patatin-like phospholipase domain-containing protein 3 (PNPLA3) (adiponutrin) gene with nonalcoholic steatohepatitis (NASH) (χ(2)=14.528, p=0.001; χ(2)=18.882, p=0.000; χ(2)=7.449, p=0.024, respectively) in 80 patients with NASH and 303 healthy controls. 24831885 2014
Nonalcoholic Steatohepatitis
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
0.710 GeneticVariation BEFREE In this study, we report the association of the rs738407, rs738409, and rs2896019 variants of the patatin-like phospholipase domain-containing protein 3 (PNPLA3) (adiponutrin) gene with nonalcoholic steatohepatitis (NASH) (χ(2)=14.528, p=0.001; χ(2)=18.882, p=0.000; χ(2)=7.449, p=0.024, respectively) in 80 patients with NASH and 303 healthy controls. 24831885 2014
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
0.710 GeneticVariation GWASDB The ERLIN1-CHUK-CWF19L1 gene cluster influences liver fat deposition and hepatic inflammation in the NHLBI Family Heart Study. 23477746 2013
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.710 GeneticVariation BEFREE IL28B and PNPLA3 polymorphisms were associated with the presence of any steatosis (rs12979860, p = 1.87 × 10(-7); rs2896019, p = 7.56 × 10(-4)); clinically significant steatosis (rs12979860, p = 1.82 × 10(-3); rs2896019, p = 1.27 × 10(-4)); and steatosis severity (rs12979860, p = 2.05 × 10(-8); rs2896019, p = 2.62 × 10(-6)). 22543885 2012
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.700 GeneticVariation GWASCAT Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers. 29385134 2018
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.700 GeneticVariation 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
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
0.700 GeneticVariation GWASDB A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population. 21750111 2011
Alanine aminotransferase measurement
0.700 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978 2010
Aspartate aminotransferase measurement
0.700 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978 2010
Serum Alanine Aminotransferase Measurement
0.700 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978 2010