Diastematomyelia
|
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 |
Neurenteric Cyst
|
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 |
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 |
Iniencephaly
|
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 |
Craniorachischisis
|
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 |
Exencephaly
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Anemia, Megaloblastic
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
Spina Bifida
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
Severe Combined Immunodeficiency
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
Longevity
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Sex Differences in Genetic Associations With Longevity.
|
30294719 |
2018 |
Lymphocyte Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
Neuropsychological Tests
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
|
19734545 |
2009 |
Asthenia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Eczema
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Lymphopenia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Mild Mental Retardation
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Pancytopenia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|