methylmalonic acidemia Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description An organic acidemia that involves an accumulation of methylmalonic acid in the blood. (Human Disease Ontology, DOID_14749)
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Genes

5 genes involed in the disease methylmalonic acidemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
MCEE methylmalonyl CoA epimerase
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MUT methylmalonyl CoA mutase