TCN2, transcobalamin 2, 6948

N. diseases: 104; N. variants: 30
Disease: Myoclonus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.010 GeneticVariation phenotype BEFREE Temporary myoclonus with treatment of congenital transcobalamin 2 deficiency. 11182287 2001