decreased methylmalonyl-coa mutase activity Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity. (Human Phenotype Ontology, HP_0003210)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003210
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Genes

4 genes associated with the decreased methylmalonyl-coa mutase activity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria