Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Neural tube defect, folate-sensitive
0.600 Biomarker disease CTD_human
Neural tube defect, folate-sensitive
0.600 Biomarker disease GENOMICS_ENGLAND
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic
0.120 Biomarker disease HPO
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.120 Biomarker disease HPO
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency
0.120 Biomarker disease HPO
CUI: C0004093
Disease: Asthenia
Asthenia
0.100 Biomarker phenotype HPO
CUI: C0013595
Disease: Eczema
Eczema
0.100 Biomarker disease HPO
CUI: C0024312
Disease: Lymphopenia
Lymphopenia
0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
0.100 Biomarker disease HPO
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures
0.100 Biomarker phenotype HPO
CUI: C0042963
Disease: Vomiting
Vomiting
0.100 Biomarker phenotype HPO
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia
0.100 Biomarker disease HPO
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 Biomarker disease HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.100 Biomarker phenotype HPO
CUI: C1692886
Disease: Arthritis, Bacterial
Arthritis, Bacterial
0.100 Biomarker group HPO
CUI: C4021736
Disease: Decreased methylcobalamin
Decreased methylcobalamin
0.100 Biomarker phenotype HPO
Abnormality of metabolism/homeostasis
0.100 Biomarker phenotype HPO
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood
0.100 Biomarker phenotype HPO
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
0.010 Biomarker disease BEFREE A hypothesis implicating a candidate gene, C1-THF synthase, in the generation of chromosome instability in the pathogenesis of familial Alzheimer's disease, is presented. 8053655 1994
Neural tube defect, folate-sensitive
0.600 GeneticVariation disease UNIPROT Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects. 9611072 1998
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 Biomarker group BEFREE Our results so far provide no evidence for a major role of the methylenetetrahydrofolate-dehydrogenase (MTHFD) gene in NTD etiology. 9611072 1998
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE A selected number of SBA patients was additionally tested for specific mutations in MTHFD, FRalpha, and PAX1 already shown to be related to NTD. 11320527 2001
Neural tube defect, folate-sensitive
0.600 GeneticVariation disease UNIPROT 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