|Dataset||DISEASES Curated Gene-Disease Assocation Evidence Scores|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
2 genes involed in the disease 3-methylcrotonyl-coa carboxylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.