Disease: Deficiency of Cobalamin G ×
Source: ALL
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 		0.020 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
CUI: C0342704
Disease: Deficiency of Cobalamin G
Deficiency of Cobalamin G 		0.020 GeneticVariation disease BEFREE The cobalamin E (cblE) (MTRR, methionine synthase reductase) and cobalamin G (cblG) (MTR, methionine synthase) defects are rare inborn errors of cobalamin metabolism leading to impairment of the remethylation of homocysteine to methionine. 25526710 2015