Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE For MTHFD1 rs2236225 polymorphism, mothers having GA genotype and A allele exhibited an increased risk of NTDs in the offspring (OR = 2.600, 95%CI: 1.227-5.529; OR = 1.847, 95%CI: 1.047-3.259). 30867013 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 AlteredExpression group BEFREE Inhibition of either BRD4 or MTHFD1 results in similar changes in nuclear metabolite composition and gene expression; pharmacological inhibitors of the two pathways synergize to impair cancer cell viability in vitro and in vivo. 31133746 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 AlteredExpression group BEFREE Mitochondrial MTHFD isozymes display distinct expression, regulation, and association with cancer. 31377316 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 AlteredExpression group BEFREE Inhibition of either BRD4 or MTHFD1 results in similar changes in nuclear metabolite composition and gene expression; pharmacological inhibitors of the two pathways synergize to impair cancer cell viability in vitro and in vivo. 31133746 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 AlteredExpression group BEFREE Mitochondrial MTHFD isozymes display distinct expression, regulation, and association with cancer. 31377316 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 PosttranslationalModification group BEFREE MTHFD1 promoter hypermethylation increases the risk of hypertension. 30183434 2019
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.010 Biomarker group BEFREE The recently identified MTHFD1 defect additionally presents with severe immune deficiency. 30761552 2019
CUI: C0021364
Disease: Male infertility
Male infertility
0.010 GeneticVariation phenotype BEFREE The chi-square test was used to determine the association between MTHFD1 G1958A polymorphism and male infertility, using SPSS software.P?0.05 was considered significant. 30882176 2019
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.010 PosttranslationalModification disease BEFREE The area under the curve (AUC) of MTHFD1 promoter methylation was 0.739 in total patients with essential hypertension. 30183434 2019
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 AlteredExpression disease BEFREE The mRNA expression levels of RFC1, MS, MTRR, MTHFR and ABCB1 were decreased (P<0.05), while those of GGH, FPGS, TS and MTHFD1 (P<0.05) were overexpressed in patients with AL. 31452789 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 AlteredExpression disease BEFREE <b>Conclusion:</b> High MTHFD1 expression in HCC indicated poorer prognosis. 30997850 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE For rs2236225 within MTHFD1, children with allele A or genotype AA had a high NTDs risk (OR=1.500, 95%CI=1.061~2.120; OR=2.862, 95%CI=1.022~8.015, respectively). 29392422 2018
CUI: C0023980
Disease: Longevity
Longevity
0.100 GeneticVariation phenotype GWASCAT Sex Differences in Genetic Associations With Longevity. 30294719 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 AlteredExpression group BEFREE The expression level of MTHFD1 was related to tumor size, TNM stage, histologic grade, and metastasis, but not linked to gender and age. 30343310 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.030 GeneticVariation group BEFREE A polymorphism in methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), R653Q (MTHFD1 c.1958 G > A), has also been associated with increased birth defect risk, likely through reduced purine synthesis. 29659962 2018
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.020 Biomarker disease BEFREE The role of MTHFD1 in NSCLC was examined in our study. 30343310 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.020 AlteredExpression disease BEFREE MATERIAL AND METHODS The correlation between the expression of MTHFD1 and the clinicopathological features of patients diagnosed with lung cancer was investigated using the chi-square test. 30343310 2018
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.020 AlteredExpression disease BEFREE MATERIAL AND METHODS The correlation between the expression of MTHFD1 and the clinicopathological features of patients diagnosed with lung cancer was investigated using the chi-square test. 30343310 2018
CUI: C1291575
Disease: Deficiency of citrate(si)-synthase
Deficiency of citrate(si)-synthase
0.020 GeneticVariation disease BEFREE We aimed to determine if the interaction of MTHFD1 synthetase deficiency and low folate intake increases developmental abnormalities in a mouse model for MTHFD1 R653Q. 29659962 2018
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.020 AlteredExpression disease BEFREE MATERIAL AND METHODS The correlation between the expression of MTHFD1 and the clinicopathological features of patients diagnosed with lung cancer was investigated using the chi-square test. 30343310 2018
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.010 AlteredExpression group BEFREE High expression of MTHFD1 was also detected in two esophageal cancer cell lines (TE-1 and EC109). 29171320 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 AlteredExpression phenotype BEFREE The expression level of MTHFD1 was related to tumor size, TNM stage, histologic grade, and metastasis, but not linked to gender and age. 30343310 2018
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
0.010 AlteredExpression group BEFREE When cells were transfected with MTHFD1-siRNA, the levels of surviving and B-cell lymphoma-2 (Bcl-2) were attenuated, while p53 and Bcl-2 associated X protein (Bax) levels were enhanced. 30343310 2018
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.010 AlteredExpression disease BEFREE High expression of MTHFD1 was also detected in two esophageal cancer cell lines (TE-1 and EC109). 29171320 2018
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
0.010 GeneticVariation disease BEFREE Our study suggests no significant genetic association of MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) polymorphisms in South Indian PEX patients. 28299500 2018