Biotinidase 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 biotinidase. (Human Disease Ontology, DOID_856)
External Link https://www.disgenet.org/browser/0/1/0/C0220754
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Genes

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

Symbol Name
ACY1 aminoacylase 1
BTD biotinidase
CHML choroideremia-like (Rab escort protein 2)
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
NBN nibrin
NME1 NME/NM23 nucleoside diphosphate kinase 1