Propionic acidemia Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy. (Human Disease Ontology, DOID_14701)
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2 genes associated with the Propionic acidemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide