Holocarboxylase synthetase deficiency Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. (Human Disease Ontology, DOID_859)
External Link http://www.omim.org/entry/253270
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Genes

1 genes associated with the Holocarboxylase synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)