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) |
External Link | http://www.omim.org/entry/606054 |
Similar Terms | |
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2 genes associated with the Propionic acidemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.