MMAB, metabolism of cobalamin associated B, 326625

N. diseases: 46; N. variants: 40
Disease: Methylmalonic aciduria cblB type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555274254
rs1555274254
Entrez Id: 326625
Gene Symbol: MMAB
MMAB
CUI: C1855102
Disease:
Methylmalonic aciduria cblB type 		G 0.700 CausalMutation CLINVAR Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria. 16410054 2006