Disease: Disorder of vitamin B12 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1272348
Disease: Disorder of vitamin B12
Disorder of vitamin B12 		0.020 GeneticVariation disease BEFREE Methylmalonic aciduria and homocystinuria type C (cblC), a disorder of vitamin B12 (cobalamin) metabolism caused by mutations in the MMACHC gene, presents with many systemic symptoms, including neurological, cognitive, psychiatric, and thromboembolic events. 25687216 2015
CUI: C1272348
Disease: Disorder of vitamin B12
Disorder of vitamin B12 		0.020 GeneticVariation disease BEFREE Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B(12) metabolism caused by mutations in MMACHC. 19836982 2010