| Disease ID | Disease name | Source of annotation with ACO2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS165500 | OPTIC ATROPHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 5 | OPA3, OPA1, ACO2, RTN4IP1, TMEM126A |
| 614559 | INFANTILE CEREBELLAR-RETINAL DEGENERATION | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | ACO2 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Glyoxylate and dicarboxylate metabolism | hsa00630 | 8.07 |
| Carbon metabolism | hsa01200 | 6.03 |
| Citrate cycle (TCA cycle) | hsa00020 | 7.86 |
| Biosynthesis of amino acids | hsa01230 | 6.58 |
| 2-Oxocarboxylic acid metabolism | hsa01210 | 8.68 |
| 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 |
| Mitochondrial protein import | R-HSA-1268020 | 7.28 |
| The citric acid (TCA) cycle and respiratory electron transport | R-HSA-1428517 | 5.71 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| Metabolism | R-HSA-1430728 | 2.34 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| 3 iron, 4 sulfur cluster binding | GO:0051538 | 9.05 |
| 4 iron, 4 sulfur cluster binding | GO:0051539 | 6.0 |
| transition metal ion binding | GO:0046914 | 2.48 |
| carbon-oxygen lyase activity | GO:0016835 | 5.46 |
| iron-sulfur cluster binding | GO:0051536 | 5.55 |
| lyase activity | GO:0016829 | 4.53 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| binding | GO:0005488 | 0.18 |
| GO:0003994 | 9.05 | |
| iron ion binding | GO:0005506 | 4.65 |
| metal ion binding | GO:0046872 | 1.41 |
| hydro-lyase activity | GO:0016836 | 5.81 |
| metal cluster binding | GO:0051540 | 5.55 |