|
Vomiting
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Tumor Cell Invasion
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
Small interfering RNA (siRNA) knockdown of MTR gene and protein expression resulted in 17.7% (P<0.0001) lower proliferation and 61% (P=0.014) higher progesterone secretion, but had no effect on cell invasion and hCG secretion. siRNA knockdown of MTHFD1 gene expression in the absence of detectable changes in protein expression resulted in 10.3% (P=0.001) lower cell proliferation, but had no effect on cell invasion and progesterone or hCG secretion.
|
26299783 |
2015 |
|
Thrombocytosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Thrombocytopenia
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
The MTHFD1 1958A allele significantly reduced the odds of hepatotoxicity (adjusted p = 0.009), while the TYMS 3R allele significantly reduced the odds of leukocytopenia and thrombocytopenia (adjusted p = 0.005 and adjusted p = 0.002, respectively).
|
22074251 |
2012 |
|
Tethered Cord Syndrome
|
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 |
|
Tethered Cord Syndrome
|
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 |
|
Stable angina
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
B vitamin treatments modify the risk of myocardial infarction associated with a MTHFD1 polymorphism in patients with stable angina pectoris.
|
26803590 |
2016 |
|
Squamous cell carcinoma of the head and neck
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
There were interactions between lower survival and CBS 844ins68 (P=0.005); age ≥ 49 years and MTR 2756 AG/GG (P=0.004) and RFC1 80AG/GG (P=0.006) genotypes; male gender and MTHFR 1298 AC/CC (P=0.030), MTR 2756 AG/GG (P=0.006) and RFC1 80 AG/GG (P=0.009); tobacco non-habit and MTHFD1 1958GA/AA (P=0.040); tobacco and MTHFR 1298 AC/CC (P=0.054) and MTR 2756 AG/GG (P=0.010); alcohol non-consume and RFC1 80 AG/GG (P=0.008) with HNSCC increased risk.
|
22051736 |
2012 |
|
Spinal Cord Myelodysplasia
|
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 |
|
Spinal Cord Myelodysplasia
|
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 |
|
Spina bifida aperta of cervical spine
|
0.300 |
SusceptibilityMutation
|
disease |
ORPHANET |
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 |
|
Spina Bifida
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0 for the following SNPs (heterozygous or homozygous) relative to the reference genotype: BHMT (rs3733890) OR = 1.8 (1.1-3.1), CBS (rs2851391) OR = 2.0 (1.2-3.1); CBS (rs234713) OR = 2.9 (1.3-6.7); MTHFD1 (rs2236224) OR = 1.7 (1.1-2.7); MTHFD1 (hcv11462908) OR = 0.2 (0-0.9); MTHFD2 (rs702465) OR = 0.6 (0.4-0.9); MTHFD2 (rs7571842) OR = 0.6 (0.4-0.9); MTHFR (rs1801133) OR = 2.0 (1.2-3.1); MTRR (rs162036) OR = 3.0 (1.5-5.9); MTRR (rs10380) OR = 3.4 (1.6-7.1); MTRR (rs1801394) OR = 0.7 (0.5-0.9); MTRR (rs9332) OR = 2.7 (1.3-5.3); TYMS (rs2847149) OR = 2.2 (1.4-3.5); TYMS (rs1001761) OR = 2.4 (1.5-3.8); and TYMS (rs502396) OR = 2.1 (1.3-3.3).
|
19493349 |
2009 |
|
Spina Bifida
|
0.120 |
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 |
|
Spina Bifida
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
|
Small cell carcinoma of lung
|
0.010 |
Biomarker
|
disease |
BEFREE |
To investigate whether such polymorphisms influence lung cancer survival, we genotyped 14 nsSNPs mapping to methylene-tetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR); DNA methyltransferase (DNMT2), methylenetetrahydrofolate dehydrogenase (MTHFD1) and methenyltetrahydrofolate synthetase (MTHFS) in 619 Caucasian women with incident disease, 465 with non-small cell (NSCLC) and 154 with small cell lung cancer (SCLC).
|
17533396 |
2007 |
|
Severe Combined Immunodeficiency
|
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 |
|
Severe Combined Immunodeficiency
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
|
Severe Combined Immunodeficiency
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
To date, only one patient with MTHFD1 deficiency, presenting with hyperhomocysteinemia, megaloblastic anaemia, hemolytic uremic syndrome (HUS) and severe combined immunodeficiency, has been identified (Watkins et al J Med Genet 48:590-2, 2011).
|
25633902 |
2015 |
|
Seizures
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Schizophrenia
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
This region contains 15 genes, including spectrin beta (SPTB), encoding a cytoskeletal protein previously associated with spherocytosis, methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), a folate metabolizing enzyme previously associated with bipoloar disorder and schizophrenia, pleckstrin homology domain-containing family G member 3 (PLEKHG3), a guanide nucleotide exchange enriched in the brain, and churchill domain containing protein 1 (CHURC1), homologs of which regulate neuronal development in model organisms.
|
21360829 |
2011 |
|
Schizophrenia
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
MTHFD 1958G>A and MTR 2756A>G polymorphisms are associated with bipolar disorder and schizophrenia.
|
17417062 |
2007 |
|
Schizophrenia
|
0.320 |
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 |
|
Schizophrenia
|
0.320 |
GeneticVariation
|
disease |
LHGDN |
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 |
|
Recurrent pneumonia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Prostate carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
This meta-analysis suggests that MTHFD1 G1958A polymorphism might not be a risk factor for PCa.
|
24197977 |
2014 |