| Disease ID | Disease name | Source of annotation with OAT | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 258870 | GYRATE ATROPHY OF CHOROID AND RETINA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | OAT |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Arginine and proline metabolism | hsa00330 | 6.84 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of amino acids and derivatives | R-HSA-71291 | 5.4 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Amino acid synthesis and interconversion (transamination) | R-HSA-70614 | 8.89 |
| GO term | GO ID | GO IC |
|---|---|---|
| anion binding | GO:0043168 | 4.17 |
| catalytic activity | GO:0003824 | 1.05 |
| ion binding | GO:0043167 | 1.36 |
| transaminase activity | GO:0008483 | 6.74 |
| transferase activity | GO:0016740 | 1.95 |
| cofactor binding | GO:0048037 | 4.16 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| ornithine-oxo-acid transaminase activity | GO:0004587 | 9.74 |
| transferase activity, transferring nitrogenous groups | GO:0016769 | 6.65 |
| identical protein binding | GO:0042802 | 2.63 |
| pyridoxal phosphate binding | GO:0030170 | 5.83 |