| Disease ID | Disease name | Source of annotation with MT-ND1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 252010 | MITOCHONDRIAL COMPLEX I DEFICIENCY | HUMSAVAR | link to OMIM | 24 | MT-ND5, NDUFAF2, MT-ND6, NDUFS2, NDUFAF6, NDUFAF1, NDUFAF5, NDUFV1, NUBPL, NDUFS7, MT-ND1, NDUFS3, NDUFA1, NDUFS6, NDUFV2, NDUFAF4, MT-ND3, NDUFAF3, NDUFS1, NDUFB9, NDUFA11, NDUFS4, NDUFB3, FOXRED1 |
| 502500 | ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL | HUMSAVAR | link to OMIM | 2 | MT-ND1, MT-ND2 |
| 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 |
| 500008 | DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL | OMIM | link to OMIM | 6 | MT-TI, MT-CO1, MT-TS1, MT-TH, MT-ND1, MT-RNR1 |
| 500001 | LEBER OPTIC ATROPHY AND DYSTONIA | OMIM | link to OMIM | 4 | MT-ND1, MT-ND6, MT-ND3, MT-ND4 |
| 540000 | MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES | OMIM, 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 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Parkinson's disease | hsa05012 | 5.59 |
| Oxidative phosphorylation | hsa00190 | 5.69 |
| 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 |
|---|---|---|
| oxidoreductase activity, acting on NAD(P)H | GO:0016651 | 5.13 |
| NADH dehydrogenase (ubiquinone) activity | GO:0008137 | 5.93 |
| catalytic activity | GO:0003824 | 1.05 |
| oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor | GO:0016655 | 5.66 |
| NADH dehydrogenase (quinone) activity | GO:0050136 | 5.93 |
| protein binding | GO:0005515 | 0.46 |
| oxidoreductase activity | GO:0016491 | 3.12 |
| NADH dehydrogenase activity | GO:0003954 | 5.93 |
| binding | GO:0005488 | 0.18 |