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 GeneticVariation disease BEFREE Methionine synthase reductase (MTRR) is the locus of the cblE class of inborn errors of cobalamin metabolism that is characterized by megaloblastic anemia and homocystinuria. 17554763 2007
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		0.120 Biomarker disease BEFREE Methionine synthase reductase (MSR) deficiency is an autosomal recessive disorder of folate/cobalamin metabolism leading to hyperhomocysteinemia, hypo- methioninemia and megaloblastic anemia. 10484769 1999
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		0.120 Biomarker disease HPO