Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity 		0.400 Biomarker disease RGD The expression of adiponutrin mRNA is also 50-fold elevated in genetically obese fa/fa rats, indicating a link between adiponutrin and obesity. 11431482 2001
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.050 AlteredExpression disease BEFREE The mRNA level was negatively correlated with fasting glucose (Rho = -0.62; P < 0.0001), and subjects with high adiponutrin mRNA level had an increased insulin sensitivity. 15181042 2004
CUI: C0023827
Disease: liposarcoma
liposarcoma 		0.010 AlteredExpression disease BEFREE Quantitative PCR revealed dramatically increased expression of iPLA2epsilon and iPLA2zeta transcripts during the hormone-induced differentiation of 3T3-L1 cells into adipocytes and identified the presence of all three iPLA2 isoforms in human SW872 liposarcoma cells. 15364929 2004
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma 		0.010 AlteredExpression disease BEFREE Quantitative PCR revealed dramatically increased expression of iPLA2epsilon and iPLA2zeta transcripts during the hormone-induced differentiation of 3T3-L1 cells into adipocytes and identified the presence of all three iPLA2 isoforms in human SW872 liposarcoma cells. 15364929 2004
CUI: C0279984
Disease: Childhood Liposarcoma
Childhood Liposarcoma 		0.010 AlteredExpression disease BEFREE Quantitative PCR revealed dramatically increased expression of iPLA2epsilon and iPLA2zeta transcripts during the hormone-induced differentiation of 3T3-L1 cells into adipocytes and identified the presence of all three iPLA2 isoforms in human SW872 liposarcoma cells. 15364929 2004
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.030 AlteredExpression disease BEFREE In a pathological context, adiponutrin gene was highly expressed in the adipose tissue of type-1 diabetic patients with chronic hyperglycemia compared with healthy subjects. 16914601 2006
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.500 GeneticVariation disease BEFREE Thus, variation in PNPLA3 contributes to ancestry-related and inter-individual differences in hepatic fat content and susceptibility to NAFLD. 18820647 2008
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.500 Biomarker disease CTD_human Thus, variation in PNPLA3 contributes to ancestry-related and inter-individual differences in hepatic fat content and susceptibility to NAFLD. 18820647 2008
CUI: C2750440
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 		0.500 GeneticVariation disease UNIPROT Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. 18820647 2008
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		0.500 Biomarker disease CTD_human Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. 18820647 2008
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.400 GeneticVariation disease LHGDN Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. 18820647 2008
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE This study aimed to replicate the association between PNPLA3 variants and obesity, and to investigate their effect on insulin resistance and beta-cell function. 18728122 2008
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		0.100 GeneticVariation phenotype GWASCAT Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. 18940312 2008
CUI: C0428321
Disease: Measurement of liver enzyme
Measurement of liver enzyme 		0.100 GeneticVariation phenotype GWASDB Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. 18940312 2008
CUI: C1287351
Disease: Finding of liver enzyme levels
Finding of liver enzyme levels 		0.100 GeneticVariation phenotype GWASDB Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. 18940312 2008
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		0.100 GeneticVariation phenotype GWASCAT Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. 18940312 2008
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.050 GeneticVariation disease BEFREE Polymorphisms in the adiponutrin gene are associated with increased insulin secretion and obesity. 18728122 2008
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.500 GeneticVariation disease BEFREE A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity. 19738004 2009
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.500 GeneticVariation disease BEFREE Our aims were to develop a method to accurately predict non-alcoholic fatty liver disease (NAFLD) and liver fat content based on routinely available clinical and laboratory data and to test whether knowledge of the recently discovered genetic variant in the PNPLA3 gene (rs738409) increases accuracy of the prediction. 19524579 2009
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.500 Biomarker disease BEFREE PNPLA3 may be an important key to understand the mechanisms discriminating fatty liver with and without metabolic consequences. 19651814 2009
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.500 GeneticVariation disease BEFREE A common variant in PNPLA3 increases the risk of hepatic steatosis in humans. 19224197 2009
CUI: C2750440
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 		0.500 GeneticVariation disease UNIPROT A common variant in PNPLA3, which encodes adiponutrin, is associated with liver fat content in humans. 19224197 2009
CUI: C2750440
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 		0.500 GeneticVariation disease UNIPROT A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity. 19738004 2009
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.400 Biomarker disease BEFREE PNPLA3 may be an important key to understand the mechanisms discriminating fatty liver with and without metabolic consequences. 19651814 2009
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.400 GeneticVariation disease BEFREE A common variant in PNPLA3 increases the risk of hepatic steatosis in humans. 19224197 2009