Maple Syrup Urine Disease Gene Set

Dataset CTD 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)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:D008375
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Genes

5 genes/proteins associated with the disease Maple Syrup Urine Disease from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
DBT dihydrolipoamide branched chain transacylase E2 2.88009
BCAT2 branched chain amino-acid transaminase 2, mitochondrial 2.88009
DLD dihydrolipoamide dehydrogenase 2.88009
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide 2.88009
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide 2.88009