Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
0.100 GeneticVariation BEFREE ALT was significantly associated with variants at reported genetic loci for alcoholic liver disease (PNPLA3, rs738409, p = 0.0076; TM6SF2, rs10401969, p = 0.0076; HSD17B13, rs10433879, p = 0.0024). 30589442 2019
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
0.100 GeneticVariation BEFREE Single-nucleotide rs738409 polymorphisms in the PNPLA3 gene are strongly associated with alcoholic liver disease in Han Chinese males. 30132178 2018
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
0.100 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
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
0.100 GeneticVariation BEFREE ADPN I148M polymorphism has been consistently reported to play a role in liver-associated diseases, such as alcoholic liver disease, chronic hepatitis C, and liver fat and fibrosis in nonalcoholic fatty liver disease. 26632699 2015
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
0.100 GeneticVariation BEFREE The nonsynonymous single-nucleotide polymorphism rs738409 C > G in the patatin-like phospholipase domain-containing 3 gene (PNPLA3, also known as adiponutrin), encoding the I148 M protein variant, has been identified as a novel genetic marker for hepatic steatosis and fibrosis in nonalcoholic fatty liver disease and alcoholic liver disease. 25543233 2015
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
0.100 GeneticVariation BEFREE Although to date only Adiponutrin (PNPLA3) rs738409 polymorphism (I148M) had been unequivocally proved to be associated with increased risk of alcoholic liver disease across different ethnicities. 26519102 2015
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
0.100 GeneticVariation BEFREE Several studies have reported an association between alcoholic liver cirrhosis (ALC) or other forms of alcoholic liver disease (ALD) and the genetic variant rs738409 (C>G) in adiponutrin/patatin-like phospholipase domain-containing 3 gene (PNPLA3). 25060292 2014
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
0.100 GeneticVariation BEFREE The G allele of the I148M variant was significantly overrepresented in patients with alcoholic liver disease (ALD, P < 0.001) and associated with hepatocellular carcinoma (HCC) development (odds ratio [OR] = 2.399; 95% confidence interval [CI]: 1.292-4.455; P = 0.008) while not affecting the other liver disease entities. 25273282 2014
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
0.100 GeneticVariation BEFREE The rs738409 variant (I148M) of the PNPLA3 gene is associated with alcoholic and non-alcoholic liver disease and we evaluated its impact on the disease course of PSC. 23505555 2013
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
0.100 GeneticVariation BEFREE The single nucleotide polymorphism (SNP) rs738409 in patatin-like phospholipase domain-containing protein 3 (PNPLA3) is associated with hepatic fat accumulation and disease progression in patients with non-alcoholic fatty liver disease and alcoholic liver disease (ALD). 22869157 2013
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
0.100 GeneticVariation BEFREE In addition, the PNPLA3 single-nucleotide polymorphism rs738409 (M148I) was reported to be associated with advanced alcoholic liver disease in alcohol-dependent individuals of Mestizo descent. 21254164 2011
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
0.100 GeneticVariation BEFREE The PNPLA3 rs738409 C>G polymorphism has been found to be strongly associated with non-alcoholic fatty liver disease and with alcoholic liver disease. 21745286 2011
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
0.100 GeneticVariation BEFREE Recently the common adiponutrin (PNPLA3) polymorphism p.I148M has been identified as a genetic determinant of severe forms of non-alcoholic fatty liver disease and alcoholic liver disease. 21893698 2011
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
0.100 GeneticVariation BEFREE Recent genome-wide association studies have identified the variant p.I148M of the adiponutrin gene PNPLA3 as a risk factor for developing severe forms of non-alcoholic and alcoholic liver diseases. 21168459 2011