Maple Syrup Urine Disease Gene Set

Dataset DisGeNET 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 https://www.disgenet.org/browser/0/1/0/C0751285
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Genes

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

Symbol Name
ARID4B AT rich interactive domain 4B (RBP1-like)
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
BDNF brain-derived neurotrophic factor
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CTSD cathepsin D
DBT dihydrolipoamide branched chain transacylase E2
DLD dihydrolipoamide dehydrogenase
F2 coagulation factor II (thrombin)
GLI2 GLI family zinc finger 2
GPR4 G protein-coupled receptor 4
IL1B interleukin 1, beta
MEA1 male-enhanced antigen 1
MECP2 methyl CpG binding protein 2
MKRN3 makorin ring finger protein 3
NBN nibrin
NME1 NME/NM23 nucleoside diphosphate kinase 1
PAH phenylalanine hydroxylase
PPM1K protein phosphatase, Mg2+/Mn2+ dependent, 1K
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SPN sialophorin
TNS3 tensin 3
UMOD uromodulin