| Disease ID | Disease name | Source of annotation with DLD | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS248600 | MAPLE SYRUP URINE DISEASE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 5 | DBT, PPM1K, DLD, BCKDHB, BCKDHA |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Pyruvate metabolism | hsa00620 | 7.45 |
| Metabolic pathways | hsa01100 | 2.49 |
| Carbon metabolism | hsa01200 | 6.03 |
| Valine, leucine and isoleucine degradation | hsa00280 | 7.09 |
| Glycine, serine and threonine metabolism | hsa00260 | 7.45 |
| Glycolysis / Gluconeogenesis | hsa00010 | 6.64 |
| Citrate cycle (TCA cycle) | hsa00020 | 7.86 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Pyruvate metabolism and Citric Acid (TCA) cycle | R-HSA-71406 | 7.56 |
| Citric acid cycle (TCA cycle) | R-HSA-71403 | 8.73 |
| Regulation of pyruvate dehydrogenase (PDH) complex | R-HSA-204174 | 9.18 |
| Metabolism of amino acids and derivatives | R-HSA-71291 | 5.4 |
| The citric acid (TCA) cycle and respiratory electron transport | R-HSA-1428517 | 5.71 |
| Branched-chain amino acid catabolism | R-HSA-70895 | 8.89 |
| Pyruvate metabolism | R-HSA-70268 | 8.52 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Lysine catabolism | R-HSA-71064 | 9.98 |
| Signaling by Retinoic Acid | R-HSA-5362517 | 7.62 |
| GO term | GO ID | GO IC |
|---|---|---|
| NAD binding | GO:0051287 | 5.77 |
| pyruvate dehydrogenase (NAD+) activity | GO:0034604 | 7.95 |
| pyruvate dehydrogenase [NAD(P)+] activity | GO:0034603 | 7.95 |
| binding | GO:0005488 | 0.18 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| oxidoreductase activity | GO:0016491 | 3.12 |
| pyruvate dehydrogenase activity | GO:0004738 | 7.95 |
| coenzyme binding | GO:0050662 | 4.53 |
| flavin adenine dinucleotide binding | GO:0050660 | 5.41 |
| lipoamide binding | GO:0043544 | 9.74 |
| oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor | GO:0016620 | 6.13 |
| nucleotide binding | GO:0000166 | 1.96 |
| oxidoreductase activity, acting on a sulfur group of donors | GO:0016667 | 5.83 |
| dihydrolipoyl dehydrogenase activity | GO:0004148 | 9.74 |
| oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor | GO:0016668 | 7.54 |
| sulfur compound binding | GO:1901681 | 4.32 |
| amide binding | GO:0033218 | 4.14 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| oxidoreductase activity, acting on the aldehyde or oxo group of donors | GO:0016903 | 5.87 |
| cofactor binding | GO:0048037 | 4.16 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| oxidoreductase activity, acting on NAD(P)H | GO:0016651 | 5.13 |