| Disease ID | Disease name | Source of annotation with BCKDHB | 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 |
|---|---|---|
| Valine, leucine and isoleucine degradation | hsa00280 | 7.09 |
| Metabolic pathways | hsa01100 | 2.49 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of amino acids and derivatives | R-HSA-71291 | 5.4 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Branched-chain amino acid catabolism | R-HSA-70895 | 8.89 |
| GO term | GO ID | GO IC |
|---|---|---|
| oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor | GO:0016624 | 7.44 |
| lyase activity | GO:0016829 | 4.53 |
| carbon-carbon lyase activity | GO:0016830 | 5.81 |
| carboxy-lyase activity | GO:0016831 | 6.15 |
| catalytic activity | GO:0003824 | 1.05 |
| alpha-ketoacid dehydrogenase activity | GO:0003826 | 9.05 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity | GO:0003863 | 9.05 |
| oxidoreductase activity, acting on the aldehyde or oxo group of donors | GO:0016903 | 5.87 |
| oxidoreductase activity | GO:0016491 | 3.12 |