| Dataset | GAD Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. (Human Disease Ontology, DOID_9269) |
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3 genes associated with the disease maple syrup urine disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
