Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.340 Biomarker disease BEFREE Vitamin E alleviates non-alcoholic fatty liver disease in phosphatidylethanolamine N-methyltransferase deficient mice. 30300671 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.340 Biomarker disease CTD_human AhR and SHP regulate phosphatidylcholine and S-adenosylmethionine levels in the one-carbon cycle. 29416063 2018
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.340 GeneticVariation disease BEFREE This study provides evidence of a significant association between the PEMT rs7946 A-allele and a risk of NAFLD, with the effect being more prominent in East-Asians, but not in non-Asians. 26636496 2016
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.340 GeneticVariation disease BEFREE We investigated a large-scale analysis of the association between microsomal triglyceride transfer protein (MTTP) and phosphatidylethanolamine N-methyltransferase (PEMT) polymorphism in alcoholic and nonalcoholic fatty liver disease. 19262398 2009
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.340 GeneticVariation disease BEFREE For the first time we report that a polymorphism of the human PEMT gene (V175M) is associated with diminished activity and may confer susceptibility to NAFLD. 16051693 2005
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		0.320 GeneticVariation disease BEFREE Although genetic variation in the phosphatidylethanolamine N-methyltransferase (PEMT) enzyme synthesizing PC has been associated with disease, the functional mechanism linking PC metabolism to the pathogenesis of non-alcoholic steatohepatitis (NASH) remains unclear. 31199045 2019
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		0.320 Biomarker disease CTD_human AhR and SHP regulate phosphatidylcholine and S-adenosylmethionine levels in the one-carbon cycle. 29416063 2018
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		0.320 Biomarker disease BEFREE Insufficiency of phosphatidylethanolamine N-methyltransferase is risk for lean non-alcoholic steatohepatitis. 26883167 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease PSYGENET No association of the rs4646396 SNP in the PEMT locus with schizophrenia in a Chinese case-control sample. 19647326 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 GeneticVariation disease BEFREE No association of the rs4646396 SNP in the PEMT locus with schizophrenia in a Chinese case-control sample. 19647326 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease BEFREE The present results suggest that the PEMT gene may contribute to the etiology of schizophrenia. 17720317 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease PSYGENET The present results suggest that the PEMT gene may contribute to the etiology of schizophrenia. 17720317 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease LHGDN The present results suggest that the PEMT gene may contribute to the etiology of schizophrenia. 17720317 2007
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.300 Biomarker disease CTD_human AhR and SHP regulate phosphatidylcholine and S-adenosylmethionine levels in the one-carbon cycle. 29416063 2018
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.300 Biomarker disease CTD_human AhR and SHP regulate phosphatidylcholine and S-adenosylmethionine levels in the one-carbon cycle. 29416063 2018
CUI: C0015696
Disease: Fatty Liver, Alcoholic
Fatty Liver, Alcoholic 		0.200 Biomarker disease RGD Betaine attenuates alcoholic steatosis by restoring phosphatidylcholine generation via the phosphatidylethanolamine methyltransferase pathway. 17156888 2007
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		0.200 Biomarker disease RGD Hepatic phosphatidylethanolamine N-methyltransferase expression is increased in diabetic rats. 17116711 2006
CUI: C0023904
Disease: Liver Neoplasms, Experimental
Liver Neoplasms, Experimental 		0.200 Biomarker phenotype RGD Suppression of rat hepatoma cell growth by expression of phosphatidylethanolamine N-methyltransferase-2. 7929120 1994
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASCAT Exome-wide association study of plasma lipids in >300,000 individuals. 29083408 2017
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT New genetic loci link adipose and insulin biology to body fat distribution. 25673412 2015
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.050 Biomarker disease BEFREE Together this study shows that vitamin E treatment efficiently prevented the progression from simple steatosis to steatohepatitis in mice lacking PEMT. 30300671 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.050 AlteredExpression disease BEFREE PEMT, AHR, and PC levels are elevated in simple steatosis patients, but PC levels are robustly reduced in steatohepatitis-fibrosis patients. 29416063 2018
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.050 AlteredExpression disease BEFREE PEMT mRNA expression in liver tissues of NASH patients was significantly lower than those with simple steatosis and we postulated the distinct clinical entity of lean NASH with insufficiency of PEMT activities. 26883167 2016