Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027806
Disease: Neurenteric Cyst
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
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst
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