Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.010 Biomarker disease BEFREE Several lines of evidence suggested that PEMT2 might have a role in hepatocyte proliferation and liver cancer. 9989271 1999
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 GeneticVariation disease BEFREE We investigated the association of a functional single nucleotide polymorphism (rs7946) in PEMT with sporadic AD risk in a Han Chinese population that included 386 AD patients and 366 controls. 21881829 2012
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 AlteredExpression disease BEFREE The objective of this study was to determine whether ectopic hepatic PEMT expression or choline supplementation would promote atherosclerosis in Pemt-/-/Ldlr-/- mice. 30281112 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 AlteredExpression disease BEFREE The objective of this study was to determine whether ectopic hepatic PEMT expression or choline supplementation would promote atherosclerosis in Pemt-/-/Ldlr-/- mice. 30281112 2018
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 GeneticVariation disease BEFREE LINE-1 methylation in leukocyte DNA, interaction with phosphatidylethanolamine N-methyltransferase variants and bladder cancer risk. 24595004 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 PosttranslationalModification disease BEFREE Here, we show that the first promoter-specific transcript 1 is the major PEMT mRNA species, and methylation of the -132 site is a key regulatory element for the PEMT gene in BRCA1-mutated breast cancer. 24675476 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 GeneticVariation disease BEFREE Compared with the PEMT GG genotype, the variant CC genotype was associated with an increased risk of breast cancer (OR: 1.30; 95% CI: 1.01-1.67). 18230680 2008
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 AlteredExpression phenotype BEFREE The present findings suggest that (1). clones lacking PEMT2 expression may have been selected during liver tumorigenesis and progression, and (2). 12931022 2003
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 GeneticVariation disease BEFREE LINE-1 methylation in leukocyte DNA, interaction with phosphatidylethanolamine N-methyltransferase variants and bladder cancer risk. 24595004 2014
CUI: C0008412
Disease: Choline Deficiency
Choline Deficiency 		0.010 AlteredExpression disease BEFREE Aberrant estrogen regulation of PEMT results in choline deficiency-associated liver dysfunction. 21059658 2011
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 GeneticVariation disease BEFREE In the present case-control association study, we investigated the relationship of three single-nucleotide polymorphisms (SNPs) (phosphatidylethanolamine N-methyltransferase (PEMT) rs12325817, choline dehydrogenase (CHDH) rs12676 and homocysteine methyltransferase (BHMT) rs3733890) of choline metabolism with risk for DS. 27677362 2017
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.010 Biomarker disease BEFREE Cystathionine beta-synthase deficiency alters hepatic phospholipid and choline metabolism: Post-translational repression of phosphatidylethanolamine N-methyltransferase is a consequence rather than a cause of liver injury in homocystinuria. 28291718 2017
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 GeneticVariation disease BEFREE This study investigates the association of homocysteine, choline and betaine levels and phosphatidylethanolamine N-methyltransferase (PEMT) G774C (rs12325817) genotypes with the risk of diabetes and its related microangiopathic complications. 23794489 2013
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 GeneticVariation group BEFREE This study investigates the association of homocysteine, choline and betaine levels and phosphatidylethanolamine N-methyltransferase (PEMT) G774C (rs12325817) genotypes with the risk of diabetes and its related microangiopathic complications. 23794489 2013
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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation disease BEFREE MTHFR rs1801131 C allele and PEMT rs4646356 T allele were associated with a high risk of T2DM in these Han Chinese. 25074646 2014
CUI: C0155765
Disease: Disease of capillaries
Disease of capillaries 		0.010 GeneticVariation group BEFREE The GG genotype of the PEMT G774C polymorphism, higher levels of serum homocysteine and lower levels of serum betaine are associated with an increased risk of microangiopathy in patients with diabetes. 23794489 2013
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 GeneticVariation disease BEFREE In the present case-control association study, we investigated the relationship of three single-nucleotide polymorphisms (SNPs) (phosphatidylethanolamine N-methyltransferase (PEMT) rs12325817, choline dehydrogenase (CHDH) rs12676 and homocysteine methyltransferase (BHMT) rs3733890) of choline metabolism with risk for DS. 27677362 2017
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.020 GeneticVariation disease BEFREE DNA samples from 59 humans without fatty liver and from 28 humans with NAFLD were genotyped for a single nucleotide polymorphism in exon 8 of PEMT, which leads to a V175M substitution. 16051693 2005
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.020 Biomarker disease BEFREE Genotype and allele frequency of PEMT, however, did not show a significant difference between control and fatty liver. 19262398 2009
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.030 GeneticVariation disease BEFREE Neither PEMT V175M genotype nor PEMT expression explained the association between liver PC content and NASH. 31199045 2019
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.030 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
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.030 GeneticVariation disease BEFREE Val175Met variant of PEMT could be a candidate molecule that determines the susceptibility to NASH, because it is more frequently observed in NASH patients and non-obese persons with Val175Met variant of PEMT are facilitated to develop NASH. 17391797 2007
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: 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