|
Abnormality of metabolism/homeostasis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abruptio Placentae
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
We conclude that women who are 'QQ' homozygote for the MTHFD1 1258G --> A (R653Q) polymorphism are almost three times more likely to develop severe abruptio placentae during their pregnancy than women who are 'RQ' or 'RR.'
|
15633187 |
2005 |
|
Acrania
|
0.300 |
Biomarker
|
disease |
CTD_human |
Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population.
|
16552426 |
2006 |
|
Acrania
|
0.300 |
Biomarker
|
disease |
CTD_human |
A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group.
|
12384833 |
2002 |
|
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 |
|
Acute lymphocytic leukemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The results suggest that MTHFD1 G1958A polymorphism might be associated with a decreased risk of ALL and other cancers.
|
23894459 |
2013 |
|
Acute myocardial infarction
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Associations of plasma serine and glycine concentrations with risk of AMI across 2 common and functional MTHFD1 polymorphisms (rs2236225 and rs1076991) were explored in Cox regression models.
|
27872106 |
2016 |
|
Acute myocardial infarction
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
A common and functional MTHFD1 polymorphism is associated with increased risk of AMI, although the risk seems to be dependent on specific B vitamin treatment.
|
26803590 |
2016 |
|
Adult Acute Lymphocytic Leukemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The results suggest that MTHFD1 G1958A polymorphism might be associated with a decreased risk of ALL and other cancers.
|
23894459 |
2013 |
|
Alzheimer's Disease
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
When stratified by age/at onset age, we found that A allele and AA genotype frequencies in cases were higher than in controls and the differences were close to significant [A vs. G, P = 0.032, Odds ratio (OR) 1.642, 95% CI 1.040-2.591; AA + GA vs. GG, P = 0.068, OR 1.665, 95% CI 0.961-2.885; AA vs. GG, P = 0.059, OR 3.458, 95% CI 0.894-13.369] in <65 years groups, which suggested that the MTHFD1 G1958A A allele might be a weak risk factor for early onset AD although it needs further confirmation.
|
20217437 |
2010 |
|
Alzheimer's Disease
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
The results indicate that of the enzymes studied only polymorphisms of folate-dependent enzyme MTHFD1 have pointed to significant differences in intensity of turnover of circulating thiols between AD and PD patients.
|
17691219 |
2007 |
|
Anemia, Megaloblastic
|
0.120 |
Biomarker
|
disease |
BEFREE |
Methylenetetrahydrofolate dehydrogenase (MTHFD1) deficiency has recently been reported to cause a folate-responsive syndrome displaying a phenotype that includes megaloblastic anemia and severe combined immunodeficiency.
|
27707659 |
2017 |
|
Anemia, Megaloblastic
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
|
Anemia, Megaloblastic
|
0.120 |
Biomarker
|
disease |
BEFREE |
These results provide evidence that impaired nuclear de novo dTMP biosynthesis can lead to both megaloblastic anemia and SCID in MTHFD1 deficiency.
|
25548164 |
2015 |
|
Anencephaly
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In the case-control study, those with the MTHFD1 G1958A variant were associated with around twofold risk of anencephaly (p=0.01) and spina bifida (p<0.01).
|
26394717 |
2016 |
|
Anterior encephalocele
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
This case-control study investigated the interactions of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-1958G>A (rs2236225) and the methylenetetrahydrofolate reductase (MTHFR) - 677C>T (rs1801133) and 1298A>C (rs1801131) polymorphisms with the risk of AE in the Northeast Indian population.
|
28398708 |
2017 |
|
Aortic Aneurysm, Abdominal
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
At the multiple logistic regression analysis adjusted for traditional cardiovascular risk factors (sex, age, hypertension, smoking habit, dyslipidaemia, diabetes) and chronic obstructive pulmonary disease (COPD), rs8003379 MTHFD1 (odds ratio (OR) 0.41, 95% confidence interval (CI) 0.26 to 0.65) and rs326118 MTRR (OR 0.47, 95% CI 0.29 to 0.77) polymorphisms resulted in independent susceptibility factor for AAA.
|
18635682 |
2008 |
|
Arthritis, Bacterial
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
Asthenia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Attention deficit hyperactivity disorder
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Functional gene variants in MTR (rs1805087), CBS (rs5742905), MTHFR (rs1801133 &rs1801131), MTHFD (rs2236225), RFC1 (rs1051266), plasma vitamin B12, folate and homocysteine were analyzed. rs1805087 'A' showed strong association with ADHD.
|
28250422 |
2017 |
|
Autistic Disorder
|
0.010 |
Biomarker
|
disease |
BEFREE |
While a similar deletion has previously been reported in a family with spherocytosis, severe learning disabilities, and mild mental retardation, this is the first implication of chr14q23.2-23.3 in the etiology of autism and points to MTHFD1, PLEKHG3, and CHURC1 as potential candidate genes contributing to autism risk.
|
21360829 |
2011 |
|
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 |
|
Bipolar Disorder
|
0.310 |
Biomarker
|
disease |
PSYGENET |
Therefore, we examined the prevalence of 1958G>A polymorphism of MTHFD1 gene, encoding trifunctional folate enzyme 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase (MTHFD1), and 2756A>G variant of methionine synthase (MTR) gene in patients with BD (n=200), schizophrenia (n=200) and in controls (n=300).
|
17417062 |
2007 |
|
Bipolar Disorder
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we examined the prevalence of 1958G>A polymorphism of MTHFD1 gene, encoding trifunctional folate enzyme 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase (MTHFD1), and 2756A>G variant of methionine synthase (MTR) gene in patients with BD (n=200), schizophrenia (n=200) and in controls (n=300).
|
17417062 |
2007 |
|
Breast Carcinoma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We hypothesized that heritable methylation potential might be a risk factor for breast cancer and evaluated possible association with breast cancer for single nucleotide polymorphisms (SNPs) either involving CpG sequences in extended 5'-regulatory regions of candidate genes (ESR1, ESR2, PGR, and SHBG) or CpG and missense coding SNPs in genes involved in methylation (MBD1, MECP2, DNMT1, MGMT, MTHFR, MTR, MTRR, MTHFD1, MTHFD2, BHMT, DCTD, and SLC19A1).
|
21105050 |
2011 |