| Disease ID | Disease name | Source of annotation with UQCRC2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 615160 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | UQCRC2 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Oxidative phosphorylation | hsa00190 | 5.69 |
| Cardiac muscle contraction | hsa04260 | 6.34 |
| Metabolic pathways | hsa01100 | 2.49 |
| Non-alcoholic fatty liver disease (NAFLD) | hsa04932 | 5.51 |
| Huntington's disease | hsa05016 | 5.17 |
| Alzheimer's disease | hsa05010 | 5.34 |
| Parkinson's disease | hsa05012 | 5.59 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism | R-HSA-1430728 | 2.34 |
| Respiratory electron transport | R-HSA-611105 | 6.44 |
| Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | R-HSA-163200 | 6.12 |
| The citric acid (TCA) cycle and respiratory electron transport | R-HSA-1428517 | 5.71 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| endopeptidase activity | GO:0004175 | 3.63 |
| metalloendopeptidase activity | GO:0004222 | 5.02 |
| transition metal ion binding | GO:0046914 | 2.48 |
| cation binding | GO:0043169 | 1.4 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| protein complex binding | GO:0032403 | 3.09 |
| peptidase activity | GO:0008233 | 3.23 |
| metal ion binding | GO:0046872 | 1.41 |
| metallopeptidase activity | GO:0008237 | 4.5 |
| zinc ion binding | GO:0008270 | 2.66 |