EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    6.3.3.2 | 5-formyltetrahydrofolate cyclo-ligase deficiency |
21156972 |
Mthfd1 is a modifier of chemically induced intestinal carcinogenesis. |
causal interaction
ongoing research
therapeutic application
unassigned |
4
4
2
0 |
| 6.3.3.2 | 5-formyltetrahydrofolate cyclo-ligase deficiency |
25548164 |
Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis. |
causal interaction
ongoing research
unassigned |
4
4
0 |
| 6.3.3.2 | 5-formyltetrahydrofolate cyclo-ligase deficiency |
25633902 |
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. |
causal interaction
therapeutic application
unassigned |
4
3
0 |
| 6.3.3.2 | 5-formyltetrahydrofolate cyclo-ligase deficiency |
27707659 |
Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
4
2
0 |
| 6.3.3.2 | 5-formyltetrahydrofolate cyclo-ligase deficiency |
30031689 |
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. |
causal interaction
unassigned |
4
0 |
| 6.3.3.2 | 5-formyltetrahydrofolate cyclo-ligase deficiency |
31844630 |
A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia. |
causal interaction
unassigned |
4
0 |
| 6.3.3.2 | Abortion, Spontaneous |
20334533 |
The MTHFD1 c.1958 G>A polymorphism and recurrent spontaneous abortions. |
ongoing research
unassigned |
2
0 |
| 6.3.3.2 | Abruptio Placentae |
15633187 |
MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
3
3
1
0 |
| 6.3.3.2 | Adenocarcinoma |
34295659 |
One carbon metabolism in human lung cancer. |
diagnostic usage
ongoing research
therapeutic application
unassigned |
3
3
1
0 |
| 6.3.3.2 | Alzheimer Disease |
20217437 |
Association analysis of CbetaS 844ins68 and MTHFD1 G1958A polymorphisms with Alzheimer's disease in Chinese. |
causal interaction
unassigned |
2
0 |
