Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.340 Biomarker group BEFREE We replicated the association of TCN2, BHMT and GLI3 with NTD risk in the 81 cases. 31139930 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.340 GeneticVariation group BEFREE The BHMT gene rs3733890, RFC1 gene rs1051266 and MTR gene rs1805087 were associated with the occurrence of NTDs in Han population of Northern China. 28770393 2018
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.340 GeneticVariation group BEFREE MTHM 501A>G only in case of GDM, and BHMT 716G>A only in case of no folate supplementation contribute to the etiology of NTDs. 24326202 2014
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.340 Biomarker group CTD_human In 304 Caucasian American NTD families with myelomeningocele or anencephaly, we examined 28 polymorphisms in 11 genes: folate receptor 1, folate receptor 2, solute carrier family 19 member 1, transcobalamin II, methylenetetrahydrofolate dehydrogenase 1, serine hydroxymethyl-transferase 1, 5,10-methylenetetrahydrofolate reductase (MTHFR), 5-methyltetrahydrofolate-homo-cysteine methyltransferase, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase, betaine-homocysteine methyltransferase (BHMT), and cystathionine-beta-synthase. 17035141 2006
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.340 GeneticVariation group BEFREE Since genetic deficiencies in folate-dependent homocysteine metabolism have been identified in NTD families, we investigated a common variant in betaine-homocysteine methyltransferase (BHMT), 742G-->A (R239Q), as a genetic modifier of NTD risk. 12749058 2003
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae 		0.310 GeneticVariation phenotype LHGDN In this population, there was an association between the homozygous mutant form of BHMT (742G-->A) polymorphism and increased risk for placental abruption. 17376725 2007
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae 		0.310 Biomarker phenotype CTD_human In this population, there was an association between the homozygous mutant form of BHMT (742G-->A) polymorphism and increased risk for placental abruption. 17376725 2007
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.300 Biomarker disease PSYGENET First, with the Principle Component analysis, six proteins, CYP2E1, FAM25, CA3, BHMT, HIBADH and ECHS1, involved in oxidation reduction, energy and lipid metabolism and amino acid metabolism, were identified as the most differentially expressed gene products across all of the experimental conditions of our chronic alcoholism model. 24658151 2014
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.300 Biomarker disease CTD_human Alterations in hepatic metabolism of sulfur amino acids in non-obese type-2 diabetic Goto-Kakizaki rats. 23665415 2013
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.300 Biomarker disease CTD_human The early molecular processes underlying the neurological manifestations of an animal model of Wilson's disease. 23519153 2013
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human The early molecular processes underlying the neurological manifestations of an animal model of Wilson's disease. 23519153 2013
CUI: C0024302
Disease: Reticulosarcoma
Reticulosarcoma 		0.300 Biomarker disease CTD_human Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study. 17119116 2007
CUI: C0024304
Disease: Lymphoma, Mixed-Cell
Lymphoma, Mixed-Cell 		0.300 Biomarker disease CTD_human Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study. 17119116 2007
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.300 Biomarker disease CTD_human Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study. 17119116 2007
CUI: C0024306
Disease: Lymphoma, Undifferentiated
Lymphoma, Undifferentiated 		0.300 Biomarker disease CTD_human Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study. 17119116 2007
CUI: C0079740
Disease: High Grade Lymphoma (neoplasm)
High Grade Lymphoma (neoplasm) 		0.300 Biomarker disease CTD_human Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study. 17119116 2007
CUI: C0079741
Disease: Lymphoma, Intermediate-Grade
Lymphoma, Intermediate-Grade 		0.300 Biomarker disease CTD_human Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study. 17119116 2007
CUI: C0079747
Disease: Low Grade Lymphoma (neoplasm)
Low Grade Lymphoma (neoplasm) 		0.300 Biomarker disease CTD_human Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study. 17119116 2007
CUI: C0079757
Disease: Diffuse Mixed-Cell Lymphoma
Diffuse Mixed-Cell Lymphoma 		0.300 Biomarker disease CTD_human Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study. 17119116 2007
CUI: C0079770
Disease: Lymphoma, Small Noncleaved-Cell
Lymphoma, Small Noncleaved-Cell 		0.300 Biomarker disease CTD_human Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study. 17119116 2007
CUI: C3714542
Disease: Lymphoma, Diffuse
Lymphoma, Diffuse 		0.300 Biomarker disease CTD_human Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study. 17119116 2007
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.300 Biomarker disease CTD_human Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study. 17119116 2007
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		0.300 Biomarker disease CTD_human Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. 17035141 2006
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		0.300 Biomarker disease CTD_human Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. 17035141 2006
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		0.300 Biomarker disease CTD_human Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. 17035141 2006