TCN2, transcobalamin 2, 6948

N. diseases: 104; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic
0.330 Biomarker disease BEFREE Complete absence of TC-II or total functional abnormality causes tissue vitamin B12 deficiency resulting in a severe disease with megaloblastic anemia and immunologic and intestinal abnormalities in the first months of life. 14689755 2003
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic
0.330 Biomarker disease LHGDN In this report, we describe the molecular basis for TCII deficiency in two patients who developed a megaloblastic anemia in early infancy. 12064907 2003
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic
0.330 Biomarker disease BEFREE In this report, we describe the molecular basis for TCII deficiency in two patients who developed a megaloblastic anemia in early infancy. 12064907 2003
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic
0.330 Biomarker disease BEFREE Inherited lack of transcobalamin II in serum and megaloblastic anaemia: a further patient. 508619 1979
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic
0.330 Biomarker disease CTD_human Megaloblastic anemia after anticonvulsive therapy. 4627864 1972