Disease table of MAPLE SYRUP URINE DISEASE OMIM ID: PS248600

Gene-disease associations table

GeneAssociated with MAPLE SYRUP URINE DISEASE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PPM1KOMIMHGNC link4q22.11PS248600
DLDClinVar, OMIM, HUMSAVARHGNC link7q31.11PS248600
BCKDHBClinVar, OMIM, HUMSAVARHGNC link6q14.11PS248600
DBTClinVar, OMIM, HUMSAVARHGNC link1p21.21PS248600
BCKDHAClinVar, OMIM, HUMSAVARHGNC link19q13.21PS248600

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
PPM1KDLDNo1DBT
PPM1KBCKDHBYes0
PPM1KDBTYes0
PPM1KBCKDHAYes0
DLDBCKDHBNo1HDAC6
DLDDBTYes3HUWE1, DLST, HDAC6
DLDBCKDHANo1HDAC6
BCKDHBDBTNo2HDAC6, PPM1K
BCKDHBBCKDHANo4POLB, HDAC6, PPM1K, CUL3
DBTBCKDHANo3HDAC6, PPM1K, PTEN

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
DLDBCKDHBYesbinding6DBT, DLAT, PDHA1, BCKDHA, PDHX, DLST
DLDDBTYesbinding7OGDH, PDHA1, BCKDHA, OGDHL, BCKDHB, DHTKD1, PDHB
DLDBCKDHAYesbinding6DBT, DLAT, PDHX, DLST, BCKDHB, PDHB
BCKDHBDBTYesbinding8DLD, TXNRD2, PDHA2, PDHA1, TXNRD3, GSR, TXNRD1, BCKDHA
BCKDHBBCKDHAYesbinding5DBT, DLD, DLST, DLAT, PDHX
DBTBCKDHAYesbinding5BCKDHB, DLD, BCKDK, PDHB, ACLY

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
DLDDBTYes0

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from PDB
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
DLDDBTYes2DBT, DLD
BCKDHBBCKDHAYes2BCKDHA, BCKDHB

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Metabolic pathwayshsa011002.494DLD, DBT, BCKDHA, BCKDHB
Valine, leucine and isoleucine degradationhsa002807.094DLD, DBT, BCKDHA, BCKDHB

NET-GE enrichment

Term New enriched termICP valueGenes
Global and overview mapsNEW2.470.013DBT, DLD, BCKDHA, BCKDHB
MetabolismNEW2.060.04DLD, DBT, BCKDHA, BCKDHB
Metabolic pathways (hsa01100) -2.490.012DLD, DBT, BCKDHA, BCKDHB
Carbon metabolism (hsa01200) NEW6.030.046DBT, DLD
Valine, leucine and isoleucine degradation (hsa00280) -7.090.0DBT, DLD, BCKDHA, BCKDHB
Amino acid metabolismNEW4.630.001DBT, DLD, BCKDHA, BCKDHB
Citrate cycle (TCA cycle) (hsa00020) NEW7.860.001DBT, DLD
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Metabolism of amino acids and derivativesR-HSA-712915.44DLD, DBT, BCKDHA, BCKDHB
MetabolismR-HSA-14307282.344DBT, DLD, BCKDHA, BCKDHB
Branched-chain amino acid catabolismR-HSA-708958.894DBT, DLD, BCKDHA, BCKDHB

NET-GE enrichment

Term New enriched termICP valueGenes
Metabolism of amino acids and derivatives (R-HSA-71291) -5.40.0DLD, DBT, BCKDHA, BCKDHB
Metabolism (R-HSA-1430728) -2.340.018DBT, DLD, BCKDHA, BCKDHB
Branched-chain amino acid catabolism (R-HSA-70895) -8.890.0DBT, DLD, BCKDHA, BCKDHB
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.055DBT, DLD, BCKDHA, BCKDHB, PPM1K
binding (GO:0005488) 0.185DBT, DLD, BCKDHA, PPM1K, BCKDHB
protein binding (GO:0005515) 0.464DBT, BCKDHA, PPM1K, BCKDHB
oxidoreductase activity, acting on the aldehyde or oxo group of donors (GO:0016903) 5.873DLD, BCKDHA, BCKDHB
oxidoreductase activity (GO:0016491) 3.123DLD, BCKDHA, BCKDHB
cation binding (GO:0043169) 1.42BCKDHA, PPM1K
oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor (GO:0016624) 7.442BCKDHA, BCKDHB
lyase activity (GO:0016829) 4.532BCKDHA, BCKDHB
carbon-carbon lyase activity (GO:0016830) 5.812BCKDHA, BCKDHB
carboxy-lyase activity (GO:0016831) 6.152BCKDHA, BCKDHB
ion binding (GO:0043167) 1.362BCKDHA, PPM1K
alpha-ketoacid dehydrogenase activity (GO:0003826) 9.052BCKDHA, BCKDHB
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863) 9.052BCKDHA, BCKDHB
metal ion binding (GO:0046872) 1.412BCKDHA, PPM1K

NET-GE enrichment

Term New enriched termICP valueGenes
oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor (GO:0016624) -7.440.0BCKDHA, BCKDHB
lyase activity (GO:0016829) -4.530.043BCKDHA, BCKDHB
carbon-carbon lyase activity (GO:0016830) -5.810.018BCKDHA, BCKDHB
carboxy-lyase activity (GO:0016831) -6.150.002BCKDHA, BCKDHB
alpha-ketoacid dehydrogenase activity (GO:0003826) -9.050.0BCKDHA, BCKDHB
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863) -9.050.0BCKDHA, BCKDHB
oxidoreductase activity, acting on the aldehyde or oxo group of donors (GO:0016903) -5.870.0DLD, BCKDHA, BCKDHB
oxidoreductase activity (GO:0016491) -3.120.033DLD, BCKDHA, BCKDHB
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
single-organism catabolic process (GO:0044712) 3.215DBT, DLD, BCKDHA, BCKDHB, PPM1K
cellular catabolic process (GO:0044248) 2.625DBT, DLD, BCKDHA, PPM1K, BCKDHB
single-organism metabolic process (GO:0044710) 1.635DLD, DBT, BCKDHA, PPM1K, BCKDHB
organonitrogen compound metabolic process (GO:1901564) 2.325DLD, DBT, BCKDHA, PPM1K, BCKDHB
organonitrogen compound catabolic process (GO:1901565) 3.915DLD, DBT, BCKDHA, BCKDHB, PPM1K
organic acid metabolic process (GO:0006082) 3.015DBT, DLD, BCKDHA, BCKDHB, PPM1K
catabolic process (GO:0009056) 2.385DLD, DBT, BCKDHA, PPM1K, BCKDHB
organic acid catabolic process (GO:0016054) 4.445DBT, DLD, BCKDHA, PPM1K, BCKDHB
cellular process (GO:0009987) 0.265DLD, DBT, BCKDHA, BCKDHB, PPM1K
organic substance catabolic process (GO:1901575) 2.455DBT, DLD, BCKDHA, BCKDHB, PPM1K
cellular metabolic process (GO:0044237) 0.695DLD, DBT, BCKDHA, BCKDHB, PPM1K
metabolic process (GO:0008152) 0.585DBT, DLD, BCKDHA, PPM1K, BCKDHB
organic substance metabolic process (GO:0071704) 0.635DLD, DBT, BCKDHA, PPM1K, BCKDHB
nitrogen compound metabolic process (GO:0006807) 1.135DBT, DLD, BCKDHA, BCKDHB, PPM1K
single-organism cellular process (GO:0044763) 0.655DLD, DBT, BCKDHA, PPM1K, BCKDHB
small molecule metabolic process (GO:0044281) 2.385DLD, DBT, BCKDHA, BCKDHB, PPM1K
small molecule catabolic process (GO:0044282) 3.995DLD, DBT, BCKDHA, PPM1K, BCKDHB
branched-chain amino acid catabolic process (GO:0009083) 6.785DBT, DLD, BCKDHA, BCKDHB, PPM1K
branched-chain amino acid metabolic process (GO:0009081) 6.645DBT, DLD, BCKDHA, BCKDHB, PPM1K
single-organism process (GO:0044699) 0.485DLD, DBT, BCKDHA, BCKDHB, PPM1K
oxoacid metabolic process (GO:0043436) 3.124DBT, DLD, BCKDHA, BCKDHB
glyoxylate metabolic process (GO:0046487) 6.44DLD, DBT, BCKDHA, BCKDHB
carboxylic acid metabolic process (GO:0019752) 3.124DLD, DBT, BCKDHA, BCKDHB
monocarboxylic acid metabolic process (GO:0032787) 3.574DLD, DBT, BCKDHA, BCKDHB
oxidation-reduction process (GO:0055114) 2.913DLD, BCKDHA, BCKDHB
protein metabolic process (GO:0019538) 1.452DLD, PPM1K
primary metabolic process (GO:0044238) 0.692DLD, PPM1K
phosphate-containing compound metabolic process (GO:0006796) 2.162DLD, PPM1K
phosphorus metabolic process (GO:0006793) 2.152DLD, PPM1K
macromolecule metabolic process (GO:0043170) 0.832DLD, PPM1K

NET-GE enrichment

Term New enriched termICP valueGenes
single-organism catabolic process (GO:0044712) -3.210.014DBT, DLD, BCKDHA, BCKDHB
cellular catabolic process (GO:0044248) -2.620.047DBT, DLD, BCKDHA, BCKDHB
organonitrogen compound catabolic process (GO:1901565) -3.910.003DLD, DBT, BCKDHA, BCKDHB
organic acid metabolic process (GO:0006082) -3.010.005DBT, DLD, BCKDHA, BCKDHB
carboxylic acid catabolic process (GO:0046395) NEW4.580.0DLD, DBT, BCKDHA, BCKDHB
organic acid catabolic process (GO:0016054) -4.440.0DBT, DLD, BCKDHA, BCKDHB
cellular amino acid metabolic process (GO:0006520) NEW4.220.0DBT, DLD, BCKDHA, BCKDHB
carboxylic acid metabolic process (GO:0019752) -3.120.003DLD, DBT, BCKDHA, BCKDHB
cellular amino acid catabolic process (GO:0009063) NEW5.370.0DBT, DLD, BCKDHA, BCKDHB
tricarboxylic acid cycle (GO:0006099) NEW6.330.007DBT, DLD
response to cAMP (GO:0051591) NEW5.080.024DLD, BCKDHA, BCKDHB
response to nutrient (GO:0007584) NEW4.490.041DLD, BCKDHA, BCKDHB
small molecule catabolic process (GO:0044282) -3.990.001DLD, DBT, BCKDHA, BCKDHB
oxoacid metabolic process (GO:0043436) -3.120.005DBT, DLD, BCKDHA, BCKDHB
response to purine-containing compound (GO:0014074) NEW4.670.023DLD, BCKDHA, BCKDHB
branched-chain amino acid metabolic process (GO:0009081) -6.640.0DBT, DLD, BCKDHA, BCKDHB
response to organophosphorus (GO:0046683) NEW4.790.018DLD, BCKDHA, BCKDHB
branched-chain amino acid catabolic process (GO:0009083) -6.780.0DBT, DLD, BCKDHA, BCKDHB
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.65DLD, DBT, BCKDHA, BCKDHB, PPM1K
organelle lumen (GO:0043233) 3.055DLD, DBT, BCKDHA, BCKDHB, PPM1K
cell part (GO:0044464) 0.115DLD, DBT, BCKDHA, BCKDHB, PPM1K
cytoplasmic part (GO:0044444) 0.825DBT, DLD, BCKDHA, BCKDHB, PPM1K
mitochondrion (GO:0005739) 2.425DBT, DLD, BCKDHA, BCKDHB, PPM1K
intracellular organelle part (GO:0044446) 0.815DLD, DBT, BCKDHA, PPM1K, BCKDHB
intracellular organelle lumen (GO:0070013) 3.055DBT, DLD, BCKDHA, BCKDHB, PPM1K
intracellular organelle (GO:0043229) 0.515DBT, DLD, BCKDHA, PPM1K, BCKDHB
membrane-enclosed lumen (GO:0031974) 3.055DBT, DLD, BCKDHA, BCKDHB, PPM1K
mitochondrial matrix (GO:0005759) 4.035DBT, DLD, BCKDHA, BCKDHB, PPM1K
intracellular part (GO:0044424) 0.285DBT, DLD, BCKDHA, BCKDHB, PPM1K
membrane-bounded organelle (GO:0043227) 0.475DLD, DBT, BCKDHA, BCKDHB, PPM1K
organelle (GO:0043226) 0.45DLD, DBT, BCKDHA, BCKDHB, PPM1K
organelle part (GO:0044422) 0.795DLD, DBT, BCKDHA, PPM1K, BCKDHB
mitochondrial part (GO:0044429) 2.925DBT, DLD, BCKDHA, PPM1K, BCKDHB
protein complex (GO:0043234) 1.514DBT, DLD, BCKDHA, BCKDHB
macromolecular complex (GO:0032991) 1.354DBT, DLD, BCKDHA, BCKDHB
catalytic complex (GO:1902494) 2.94DBT, DLD, BCKDHA, BCKDHB
oxidoreductase complex (GO:1990204) 5.194DBT, DLD, BCKDHA, BCKDHB
tricarboxylic acid cycle enzyme complex (GO:0045239) 7.44DBT, DLD, BCKDHA, BCKDHB
dihydrolipoyl dehydrogenase complex (GO:0045240) 7.54DBT, DLD, BCKDHA, BCKDHB
mitochondrial tricarboxylic acid cycle enzyme complex (GO:0030062) 8.193DBT, BCKDHA, BCKDHB
mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947) 8.193DBT, BCKDHA, BCKDHB
mitochondrial protein complex (GO:0098798) 4.783DBT, BCKDHA, BCKDHB

NET-GE enrichment

Term New enriched termICP valueGenes
mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947) -8.190.0DBT, BCKDHA, BCKDHB
catalytic complex (GO:1902494) -2.90.022DBT, DLD, BCKDHA, BCKDHB
intracellular organelle lumen (GO:0070013) -3.050.0DBT, DLD, BCKDHA, BCKDHB, PPM1K
membrane-enclosed lumen (GO:0031974) -3.050.001DBT, DLD, BCKDHA, BCKDHB, PPM1K
organelle lumen (GO:0043233) -3.050.0DLD, DBT, BCKDHA, BCKDHB, PPM1K
mitochondrial nucleoid (GO:0042645) NEW6.020.004DBT, DLD
mitochondrion (GO:0005739) -2.420.006DBT, DLD, BCKDHA, BCKDHB, PPM1K
oxidoreductase complex (GO:1990204) -5.190.0DBT, DLD, BCKDHA, BCKDHB
mitochondrial tricarboxylic acid cycle enzyme complex (GO:0030062) -8.190.0DBT, BCKDHA, BCKDHB
mitochondrial part (GO:0044429) -2.920.0DBT, DLD, BCKDHA, PPM1K, BCKDHB
tricarboxylic acid cycle enzyme complex (GO:0045239) -7.40.0DBT, BCKDHA, BCKDHB
mitochondrial matrix (GO:0005759) -4.030.0DBT, DLD, BCKDHA, BCKDHB, PPM1K
dihydrolipoyl dehydrogenase complex (GO:0045240) -7.50.0DBT, BCKDHA, BCKDHB
nucleoid (GO:0009295) NEW5.970.004DBT, DLD