Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic
0.010 GeneticVariation disease BEFREE Deficiency in the trifunctional enzyme containing methylenetetrahydrofolate dehydrogenase, methenyltetrahydrofolate cyclohydrolase and formyltetrahydrofolate synthetase activities, has been identified in a single patient with megaloblastic anemia, atypical hemolytic uremic syndrome and severe combined immune deficiency. 22108709 2012