| Disease ID | Disease name | Source of annotation with MT-CO3 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 550500 | MYOGLOBINURIA, RECURRENT | OMIM | link to OMIM | 3 | MT-CYB, MT-CO3, MT-CO1 |
| 256000 | LEIGH SYNDROME | ClinVar | link to OMIM | 27 | MT-ND5, NDUFAF2, NDUFA12, NDUFAF6, NDUFV1, NDUFA10, MTFMT, NDUFS8, BCS1L, SDHA, MT-CO3, COX10, NDUFA2, ECHS1, NDUFS3, MT-ATP6, FOXRED1, MT-ND3, IARS2, NARS2, NDUFS7, COX15, NDUFAF5, POLG, SURF1, NDUFS4, NDUFA9 |
| 540000 | MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES | HUMSAVAR | link to OMIM | 13 | MT-TQ, MT-TL1, MT-TS1, MT-CO3, MT-TH, MT-ND5, MT-ND4, MT-ND1, MT-TS2, MT-ND6, MT-TD, NDUFS1, MT-TK |
| 535000 | LEBER OPTIC ATROPHY | HUMSAVAR | link to OMIM | 9 | MT-ND5, MT-ATP6, MT-CO3, MT-ND4, MT-ND1, MT-CYB, MT-ND6, MT-ND4L, MT-ND2 |
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 |
|---|---|---|
| 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 |
| transporter activity | GO:0005215 | 2.57 |
| cation transmembrane transporter activity | GO:0008324 | 3.32 |
| cytochrome-c oxidase activity | GO:0004129 | 6.34 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| ion transmembrane transporter activity | GO:0015075 | 3.04 |
| catalytic activity | GO:0003824 | 1.05 |
| monovalent inorganic cation transmembrane transporter activity | GO:0015077 | 3.87 |
| oxidoreductase activity, acting on a heme group of donors, oxygen as acceptor | GO:0016676 | 6.34 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| oxidoreductase activity, acting on a heme group of donors | GO:0016675 | 6.3 |
| oxidoreductase activity | GO:0016491 | 3.12 |
| hydrogen ion transmembrane transporter activity | GO:0015078 | 5.01 |
| heme-copper terminal oxidase activity | GO:0015002 | 6.34 |
| electron carrier activity | GO:0009055 | 4.97 |