Disease: Anemia, Megaloblastic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		0.120 Biomarker disease HPO
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		0.120 Biomarker disease BEFREE Methylenetetrahydrofolate dehydrogenase (MTHFD1) deficiency has recently been reported to cause a folate-responsive syndrome displaying a phenotype that includes megaloblastic anemia and severe combined immunodeficiency. 27707659 2017
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		0.120 Biomarker disease BEFREE These results provide evidence that impaired nuclear de novo dTMP biosynthesis can lead to both megaloblastic anemia and SCID in MTHFD1 deficiency. 25548164 2015