Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342704
Disease: Deficiency of Cobalamin G
Deficiency of Cobalamin G
0.010 GeneticVariation disease BEFREE Cobalamin G (cblG) and cobalamin J (cblJ) defects are rare disorders of cbl metabolism caused by MTR and ABCD4 mutations, respectively. 30651581 2019