MMAB, metabolism of cobalamin associated B, 326625

N. diseases: 46; N. variants: 40
Disease: Methylmalonic aciduria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.140 GeneticVariation disease BEFREE Methylmalonic aciduria (MMA) cblB type is caused by mutations in the MMAB gene, which codes for the enzyme adenosine triphosphate (ATP): cobalamin adenosyltransferase (ATR). 24813872 2015
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.140 GeneticVariation disease BEFREE High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria. 23707710 2014
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.140 GeneticVariation disease BEFREE Methylmalonic aciduria (MMA) cblB type is caused by mutations in the MMAB gene. 23674520 2013
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.140 Biomarker disease BEFREE ATP:cob(I)alamin adenosyltransferase (MMAB protein; methylmalonic aciduria type B) is an enzyme of vitamin B(12) metabolism that converts reduced cob(I)alamin to the adenosylcobalamin co-factor required for the functional activity of methylmalonyl-CoA mutase. 16439175 2006
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.140 Biomarker disease HPO