DHFR, dihydrofolate reductase, 1719

N. diseases: 191; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.020 Biomarker disease BEFREE There is an association between DHFR DD/SHMT TT and DHFR II/SHMT TT combined genotypes and folate and MMA concentrations in individuals with DS. 23421317 2013
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.020 GeneticVariation disease BEFREE The 19-bp deletion polymorphism of DHFR gene was not a maternal risk factor for DS and was not related to variations in the concentrations of serum folate and plasma Hcy and MMA in the study population. 21120433 2010