MMUT, methylmalonyl-CoA mutase, 4594

N. diseases: 147; N. variants: 177
Disease: Methylmalonic Aciduria, mut(-) Type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855116
Disease: Methylmalonic Aciduria, mut(-) Type
Methylmalonic Aciduria, mut(-) Type 		0.600 Biomarker disease MGD Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect. 27519416 2016
CUI: C1855116
Disease: Methylmalonic Aciduria, mut(-) Type
Methylmalonic Aciduria, mut(-) Type 		0.600 Biomarker disease MGD Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle. 17937813 2007
CUI: C1855116
Disease: Methylmalonic Aciduria, mut(-) Type
Methylmalonic Aciduria, mut(-) Type 		0.600 Biomarker disease MGD A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality. 14555645 2003
CUI: C1855116
Disease: Methylmalonic Aciduria, mut(-) Type
Methylmalonic Aciduria, mut(-) Type 		0.600 Biomarker disease CTD_human
CUI: C1855116
Disease: Methylmalonic Aciduria, mut(-) Type
Methylmalonic Aciduria, mut(-) Type 		0.600 CausalMutation disease CLINVAR