Holocarboxylase Synthetase Deficiency Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. (Human Disease Ontology, DOID_859)
External Link https://www.disgenet.org/browser/0/1/0/C0268581
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Genes

4 genes associated with the disease Holocarboxylase Synthetase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
BTD biotinidase
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
MT-ATP6 ATP synthase F0 subunit 6
PC pyruvate carboxylase