| Disease ID | Disease name | Source of annotation with MT-CO2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 220110 | MITOCHONDRIAL COMPLEX IV DEFICIENCY | HUMSAVAR | link to OMIM | 12 | SCO1, MT-CO2, PET100, TACO1, COX6B1, MT-CO1, COX14, APOPT1, COX20, FASTKD2, COX8A, COX10 |
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 |
|---|---|---|
| Transcriptional Regulation by TP53 | R-HSA-3700989 | 6.73 |
| 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 |
| Generic Transcription Pathway | R-HSA-212436 | 3.86 |
| The citric acid (TCA) cycle and respiratory electron transport | R-HSA-1428517 | 5.71 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Gene Expression | R-HSA-74160 | 2.72 |
| TP53 Regulates Metabolic Genes | R-HSA-5628897 | 6.73 |
| GO term | GO ID | GO IC |
|---|---|---|
| binding | GO:0005488 | 0.18 |
| oxidoreductase activity | GO:0016491 | 3.12 |
| cation binding | GO:0043169 | 1.4 |
| transition metal ion binding | GO:0046914 | 2.48 |
| monovalent inorganic cation transmembrane transporter activity | GO:0015077 | 3.87 |
| ion binding | GO:0043167 | 1.36 |
| metal ion binding | GO:0046872 | 1.41 |
| heme-copper terminal oxidase activity | GO:0015002 | 6.34 |
| cytochrome-c oxidase activity | GO:0004129 | 6.34 |
| transporter activity | GO:0005215 | 2.57 |
| cation transmembrane transporter activity | GO:0008324 | 3.32 |
| catalytic activity | GO:0003824 | 1.05 |
| electron carrier activity | GO:0009055 | 4.97 |
| substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
| inorganic cation transmembrane transporter activity | GO:0022890 | 3.49 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| ion transmembrane transporter activity | GO:0015075 | 3.04 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| oxidoreductase activity, acting on a heme group of donors, oxygen as acceptor | GO:0016676 | 6.34 |
| protein binding | GO:0005515 | 0.46 |
| oxidoreductase activity, acting on a heme group of donors | GO:0016675 | 6.3 |
| copper ion binding | GO:0005507 | 5.71 |
| hydrogen ion transmembrane transporter activity | GO:0015078 | 5.01 |