biotinidase deficiency Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A multiple carboxylase deficiency that involves a deficiency in biotinidase. (Human Disease Ontology, DOID_856)
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17 genes co-occuring with the disease biotinidase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
BTD biotinidase 3.97536
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 2.26744
PC pyruvate carboxylase 1.03493
PCCB propionyl CoA carboxylase, beta polypeptide 0.782707
ABHD14A abhydrolase domain containing 14A 0.774523
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 0.774523
CEL carboxyl ester lipase 0.620617
HADH hydroxyacyl-CoA dehydrogenase 0.554015
NDP Norrie disease (pseudoglioma) 0.510344
GAN gigaxonin 0.507657
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 0.460883
IVD isovaleryl-CoA dehydrogenase 0.406425
TPH1 tryptophan hydroxylase 1 0.353027
FABP3 fatty acid binding protein 3, muscle and heart 0.313552
SCN1A sodium channel, voltage gated, type I alpha subunit 0.312102
ATP7A ATPase, Cu++ transporting, alpha polypeptide 0.216332
DCPS decapping enzyme, scavenger 0.172544