Disease: Dysmorphism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		0.010 GeneticVariation disease BEFREE A polymorphism in methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), R653Q (MTHFD1 c.1958 G > A), has also been associated with increased birth defect risk, likely through reduced purine synthesis. 29659962 2018