Disease ID | Disease name | Source of annotation with DBT | 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 |
---|---|---|
ubiquitin protein ligase binding | GO:0031625 | 4.17 |
ubiquitin-like protein ligase binding | GO:0044389 | 4.15 |
enzyme binding | GO:0019899 | 2.27 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity | GO:0043754 | 9.74 |
transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |