Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25902
Gene Symbol: MTHFD1L
MTHFD1L
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