3-methylcrotonyl-coa 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 has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. (Human Disease Ontology, DOID_0050710)
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Genes

17 genes co-occuring with the disease 3-methylcrotonyl-coa carboxylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha) 2.52222
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta) 2.11145
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 1.97503
PCP2 Purkinje cell protein 2 1.08034
CUTA cutA divalent cation tolerance homolog (E. coli) 1.03535
CGB7 chorionic gonadotropin, beta polypeptide 7 0.986849
CGB5 chorionic gonadotropin, beta polypeptide 5 0.985164
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 0.9839
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 0.964986
CGB chorionic gonadotropin, beta polypeptide 0.958287
CGB8 chorionic gonadotropin, beta polypeptide 8 0.95745
IVD isovaleryl-CoA dehydrogenase 0.885979
PC pyruvate carboxylase 0.881062
HADH hydroxyacyl-CoA dehydrogenase 0.854859
PTS 6-pyruvoyltetrahydropterin synthase 0.707157
MMD monocyte to macrophage differentiation-associated 0.420641
GSR glutathione reductase 0.337975