| Disease ID | Disease name | Source of annotation with TYMP | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS603041 | MITOCHONDRIAL DNA DEPLETION SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 14 | RRM2B, SLC25A4, AGK, C10orf2, FBXL4, SUCLG1, MGME1, POLG, MPV17, TK2, SUCLA2, DGUOK, OPA1, TYMP |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Drug metabolism - other enzymes | hsa00983 | 7.21 |
| Bladder cancer | hsa05219 | 7.38 |
| Metabolic pathways | hsa01100 | 2.49 |
| Pyrimidine metabolism | hsa00240 | 6.01 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of nucleotides | R-HSA-15869 | 6.7 |
| Pyrimidine salvage reactions | R-HSA-73614 | 9.81 |
| Pyrimidine metabolism | R-HSA-73848 | 8.4 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Pyrimidine catabolism | R-HSA-73621 | 9.4 |
| GO term | GO ID | GO IC |
|---|---|---|
| platelet-derived growth factor receptor binding | GO:0005161 | 7.1 |
| protein binding | GO:0005515 | 0.46 |
| pyrimidine-nucleoside phosphorylase activity | GO:0016154 | 9.74 |
| thymidine phosphorylase activity | GO:0009032 | 9.74 |
| growth factor receptor binding | GO:0070851 | 4.87 |
| phosphorylase activity | GO:0004645 | 7.95 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| binding | GO:0005488 | 0.18 |
| transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
| transferase activity, transferring pentosyl groups | GO:0016763 | 5.7 |
| transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
| receptor binding | GO:0005102 | 2.43 |
| growth factor activity | GO:0008083 | 4.66 |