multiple carboxylase deficiency Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An amino acid metabolic disorder that involves failures of carboxylation enzymes. (Human Disease Ontology, DOID_857)
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28 genes co-occuring with the disease multiple carboxylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
BTD biotinidase 3.86092
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 3.3413
PC pyruvate carboxylase 1.8264
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 1.09125
MMD monocyte to macrophage differentiation-associated 1.02692
RPE ribulose-5-phosphate-3-epimerase 0.922974
PTS 6-pyruvoyltetrahydropterin synthase 0.712392
PCCB propionyl CoA carboxylase, beta polypeptide 0.668345
IVD isovaleryl-CoA dehydrogenase 0.66596
ABHD14A abhydrolase domain containing 14A 0.660404
DCPS decapping enzyme, scavenger 0.622967
CUTA cutA divalent cation tolerance homolog (E. coli) 0.613183
CEL carboxyl ester lipase 0.510728
HADH hydroxyacyl-CoA dehydrogenase 0.445805
HGS hepatocyte growth factor-regulated tyrosine kinase substrate 0.416147
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.407172
NDP Norrie disease (pseudoglioma) 0.403438
GAN gigaxonin 0.400826
TCN2 transcobalamin II 0.36741
LBR lamin B receptor 0.357446
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 0.355235
MUT methylmalonyl CoA mutase 0.263014
TPH1 tryptophan hydroxylase 1 0.251015
EMD emerin 0.224196
FABP3 fatty acid binding protein 3, muscle and heart 0.213621
SCN1A sodium channel, voltage gated, type I alpha subunit 0.212271
ATP7A ATPase, Cu++ transporting, alpha polypeptide 0.138001
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 0.13668