Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
Neural tube defect, folate-sensitive 		0.600 Biomarker disease CTD_human
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
Neural tube defect, folate-sensitive 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4540434
Disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
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
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 AlteredExpression disease BEFREE <b>Conclusion:</b> High MTHFD1 expression in HCC indicated poorer prognosis. 30997850 2019
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency 		0.010 GeneticVariation disease BEFREE Folate deficiency has been associated with placenta-related pregnancy complications, as have SNP in genes of the folate-dependent enzymes, methionine synthase (MTR) and methylenetetrahydrofolate dehydrogenase 1 (MTHFD1). 26299783 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 GeneticVariation disease BEFREE MTHFD 1958G>A and MTR 2756A>G polymorphisms are associated with bipolar disorder and schizophrenia. 17417062 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 GeneticVariation group BEFREE MTHFD1 G1958A polymorphism was not associated with increased risk of this disease; the evaluation results of the MTHFR A1298C polymorphism in this neoplasm were contradictory. 22392251 2012
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.400 GeneticVariation group BEFREE MTHFD1 p.R653Q has been proposed as a risk factor for neural tube defects (NTDs), congenital heart defects (CHDs) and pregnancy losses. 23704330 2013