maple syrup urine disease Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
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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Genes

59 genes co-occuring with the disease maple syrup urine disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide 2.63919
PPM1K protein phosphatase, Mg2+/Mn2+ dependent, 1K 2.13115
BCKDK branched chain ketoacid dehydrogenase kinase 1.82459
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 1.666
DLD dihydrolipoamide dehydrogenase 1.57556
DBT dihydrolipoamide branched chain transacylase E2 1.45089
BCAT2 branched chain amino-acid transaminase 2, mitochondrial 1.44694
MMD monocyte to macrophage differentiation-associated 1.36945
NIPSNAP1 nipsnap homolog 1 (C. elegans) 1.28959
HIBADH 3-hydroxyisobutyrate dehydrogenase 1.18152
ALDH6A1 aldehyde dehydrogenase 6 family, member A1 1.03662
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 1.00288
BCAT1 branched chain amino-acid transaminase 1, cytosolic 0.888029
BTD biotinidase 0.841753
HADH hydroxyacyl-CoA dehydrogenase 0.840934
OTC ornithine carbamoyltransferase 0.732596
PTS 6-pyruvoyltetrahydropterin synthase 0.729357
GPX5 glutathione peroxidase 5 0.724098
GPX4 glutathione peroxidase 4 0.720865
GPX1 glutathione peroxidase 1 0.70434
HSPD1 heat shock 60kDa protein 1 (chaperonin) 0.684292
MUT methylmalonyl CoA mutase 0.656441
CUTA cutA divalent cation tolerance homolog (E. coli) 0.646953
GALE UDP-galactose-4-epimerase 0.645375
SLC1A5 solute carrier family 1 (neutral amino acid transporter), member 5 0.639857
SUOX sulfite oxidase 0.625711
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 0.59913
FGD1 FYVE, RhoGEF and PH domain containing 1 0.540829
CAT catalase 0.508424
GFER growth factor, augmenter of liver regeneration 0.50459
QDPR quinoid dihydropteridine reductase 0.502675
GFAP glial fibrillary acidic protein 0.463905
ATP11A ATPase, class VI, type 11A 0.45447
CSN1S1 casein alpha s1 0.446182
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.43941
GAN gigaxonin 0.433021
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 0.42814
HLA-DPB1 major histocompatibility complex, class II, DP beta 1 0.391885
NEFH neurofilament, heavy polypeptide 0.390025
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide 0.38111
GPX3 glutathione peroxidase 3 0.374809
GALT galactose-1-phosphate uridylyltransferase 0.337608
PLP1 proteolipid protein 1 0.328105
VIMP VCP-interacting membrane selenoprotein 0.327375
INS insulin 0.285086
SOD2 superoxide dismutase 2, mitochondrial 0.270819
LDHA lactate dehydrogenase A 0.24996
OAT ornithine aminotransferase 0.238054
MGAM maltase-glucoamylase 0.237357
CS citrate synthase 0.217012
LAMA2 laminin, alpha 2 0.215653
SP1 Sp1 transcription factor 0.214636
TAT tyrosine aminotransferase 0.210253
PAH phenylalanine hydroxylase 0.1936
C6ORF25 chromosome 6 open reading frame 25 0.177851
HEXA hexosaminidase A (alpha polypeptide) 0.171535
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 0.168854
S100B S100 calcium binding protein B 0.167682
PPP2R4 protein phosphatase 2A activator, regulatory subunit 4 0.161716