Classic Maple Syrup Urine Disease Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0268568
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Genes

5 genes associated with the disease Classic Maple Syrup Urine Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
BCAT2 branched chain amino-acid transaminase 2, mitochondrial
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
DBT dihydrolipoamide branched chain transacylase E2
PPM1K protein phosphatase, Mg2+/Mn2+ dependent, 1K