Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4646342
rs4646342
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0205682
Disease:
Waist-Hip Ratio
A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs8078513
rs8078513
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0205682
Disease:
Waist-Hip Ratio
A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs11656215
rs11656215
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0202236
Disease:
Triglycerides measurement
T 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs7946
rs7946
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0202236
Disease:
Triglycerides measurement
T 0.700 GeneticVariation GWASCAT Exome-wide association study of plasma lipids in >300,000 individuals. 29083408 2017
dbSNP: rs4646404
rs4646404
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0205682
Disease:
Waist-Hip Ratio
A 0.700 GeneticVariation GWASCAT New genetic loci link adipose and insulin biology to body fat distribution. 25673412 2015
dbSNP: rs7946
rs7946
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C4529962
Disease:
Fatty Liver Disease
0.020 GeneticVariation BEFREE Decreased liver PC content in individuals with the NASH is independent of PEMT V175M genotype and could be partly linked to decreased GNMT expression. 31199045 2019
dbSNP: rs7946
rs7946
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.020 GeneticVariation 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
dbSNP: rs7946
rs7946
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C4529962
Disease:
Fatty Liver Disease
0.020 GeneticVariation 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
dbSNP: rs7946
rs7946
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.020 GeneticVariation 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
dbSNP: rs1109859
rs1109859
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE One hundred ninety-six children with obesity (101 females, 95 males) were evaluated using anthropometric measurements, dietary intakes, plasma and RBC PUFA quantification, blood biochemistry, and 55 single nucleotide polymorphisms within 14 genes. phosphatidylethanolamine <i>N</i>-methyltransferase (<i>PEMT</i>) rs1109859 and methylenetetrahydrofolate reductase gene (<i>MTHFR</i>) rs4846052 genotypes were associated with PUFA levels in RBCs. 31671528 2019
dbSNP: rs12325817
rs12325817
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C4521042
Disease:
Complete Trisomy 21 Syndrome
0.010 GeneticVariation 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
dbSNP: rs12325817
rs12325817
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0013080
Disease:
Down Syndrome
0.010 GeneticVariation 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
dbSNP: rs2278952
rs2278952
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0037284
Disease:
Skin lesion
0.010 GeneticVariation BEFREE In the discovery population, genetic variants in the one-carbon metabolism genes phosphatidylethanolamine N-methyltransferase (rs2278952, P for interaction  = .004; rs897453, P for interaction = .05) and dihydrofolate reductase (rs1650697, P for interaction = .02), the inflammation gene interleukin 10 (rs3024496, P for interaction =.04), and the skin cancer genes inositol polyphosphate-5-phosphatase (INPP5A; rs1133400, P for interaction = .03) and xeroderma pigmentosum complementation group C (rs2228000, P for interaction = .01) significantly modified the association between arsenic and skin lesions after adjustments for multiple comparisons. 25759212 2015
dbSNP: rs2278952
rs2278952
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0007114
Disease:
Malignant neoplasm of skin
0.010 GeneticVariation BEFREE In the discovery population, genetic variants in the one-carbon metabolism genes phosphatidylethanolamine N-methyltransferase (rs2278952, P for interaction  = .004; rs897453, P for interaction = .05) and dihydrofolate reductase (rs1650697, P for interaction = .02), the inflammation gene interleukin 10 (rs3024496, P for interaction =.04), and the skin cancer genes inositol polyphosphate-5-phosphatase (INPP5A; rs1133400, P for interaction = .03) and xeroderma pigmentosum complementation group C (rs2228000, P for interaction = .01) significantly modified the association between arsenic and skin lesions after adjustments for multiple comparisons. 25759212 2015
dbSNP: rs897453
rs897453
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0007114
Disease:
Malignant neoplasm of skin
0.010 GeneticVariation BEFREE In the discovery population, genetic variants in the one-carbon metabolism genes phosphatidylethanolamine N-methyltransferase (rs2278952, P for interaction  = .004; rs897453, P for interaction = .05) and dihydrofolate reductase (rs1650697, P for interaction = .02), the inflammation gene interleukin 10 (rs3024496, P for interaction =.04), and the skin cancer genes inositol polyphosphate-5-phosphatase (INPP5A; rs1133400, P for interaction = .03) and xeroderma pigmentosum complementation group C (rs2228000, P for interaction = .01) significantly modified the association between arsenic and skin lesions after adjustments for multiple comparisons. 25759212 2015
dbSNP: rs897453
rs897453
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0037284
Disease:
Skin lesion
0.010 GeneticVariation BEFREE In the discovery population, genetic variants in the one-carbon metabolism genes phosphatidylethanolamine N-methyltransferase (rs2278952, P for interaction  = .004; rs897453, P for interaction = .05) and dihydrofolate reductase (rs1650697, P for interaction = .02), the inflammation gene interleukin 10 (rs3024496, P for interaction =.04), and the skin cancer genes inositol polyphosphate-5-phosphatase (INPP5A; rs1133400, P for interaction = .03) and xeroderma pigmentosum complementation group C (rs2228000, P for interaction = .01) significantly modified the association between arsenic and skin lesions after adjustments for multiple comparisons. 25759212 2015
dbSNP: rs4646356
rs4646356
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE MTHFR rs1801131 C allele and PEMT rs4646356 T allele were associated with a high risk of T2DM in these Han Chinese. 25074646 2014
dbSNP: rs7946
rs7946
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0027794
Disease:
Neural Tube Defects
0.010 GeneticVariation BEFREE The association between PEMT rs7946 and NTDs requires confirmation. 25240073 2014
dbSNP: rs12325817
rs12325817
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation 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
dbSNP: rs12325817
rs12325817
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation 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
dbSNP: rs7946
rs7946
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE These results suggested that PEMT G523A is associated with AD and that the A allele is an APOE ε4-independent risk factor for AD among Han Chinese women. 21881829 2012
dbSNP: rs7946
rs7946
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE These results suggested that PEMT G523A is associated with AD and that the A allele is an APOE ε4-independent risk factor for AD among Han Chinese women. 21881829 2012
dbSNP: rs12325817
rs12325817
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0268238
Disease:
Triglyceride storage disease with ichthyosis
0.010 GeneticVariation BEFREE The polymorphism (rs12325817) most highly linked with the development of CDS (p < 0.00006) was located within 1 kb of the critical estrogen response element. 21059658 2011
dbSNP: rs4244593
rs4244593
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0014175
Disease:
Endometriosis
0.010 GeneticVariation BEFREE We studied 16 SNPs in 12 folate and choline metabolism genes, including BHMT (rs7356530 and rs3733890), BHMT2 (rs625879), CBS (844ins68), CHDH (rs893363 and rs2289205), CHKA (rs7928739), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394), PCYT1A (rs712012 and rs7639752), PEMT (rs4244593 and rs4646406) and TCN (rs1801198) in one hundred and sixty-three infertile women with minimal endometriosis and one hundred and fifty fertile women. 21429654 2011
dbSNP: rs4646406
rs4646406
Entrez Id: 10400
Gene Symbol: PEMT
PEMT
CUI: C0014175
Disease:
Endometriosis
0.010 GeneticVariation BEFREE We studied 16 SNPs in 12 folate and choline metabolism genes, including BHMT (rs7356530 and rs3733890), BHMT2 (rs625879), CBS (844ins68), CHDH (rs893363 and rs2289205), CHKA (rs7928739), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394), PCYT1A (rs712012 and rs7639752), PEMT (rs4244593 and rs4646406) and TCN (rs1801198) in one hundred and sixty-three infertile women with minimal endometriosis and one hundred and fifty fertile women. 21429654 2011