rs28941784, MMAB

N. diseases: 2
Disease: Methylmalonic acidemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Methylmalonic acidemia
CUI: C0268583
Disease: Methylmalonic acidemia
0.700 CausalMutation CLINVAR Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. 16311595 2006
Methylmalonic acidemia
CUI: C0268583
Disease: Methylmalonic acidemia
0.700 CausalMutation CLINVAR Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. 12471062 2002