| Disease ID | Disease name | Source of annotation with NDUFS1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 252010 | MITOCHONDRIAL COMPLEX I DEFICIENCY | OMIM, 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 |
| 540000 | MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES | ClinVar | link to OMIM | 13 | MT-TQ, MT-ND5, MT-TS1, MT-TH, MT-TL1, MT-CO3, 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 |
|---|---|---|
| Oxidative phosphorylation | hsa00190 | 5.69 |
| 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 |
|---|---|---|
| oxidoreductase activity | GO:0016491 | 3.12 |
| cation binding | GO:0043169 | 1.4 |
| metal ion binding | GO:0046872 | 1.41 |
| 4 iron, 4 sulfur cluster binding | GO:0051539 | 6.0 |
| oxidoreductase activity, acting on NAD(P)H | GO:0016651 | 5.13 |
| NADH dehydrogenase (ubiquinone) activity | GO:0008137 | 5.93 |
| iron-sulfur cluster binding | GO:0051536 | 5.55 |
| 2 iron, 2 sulfur cluster binding | GO:0051537 | 6.56 |
| catalytic activity | GO:0003824 | 1.05 |
| ion binding | GO:0043167 | 1.36 |
| 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 |
| metal cluster binding | GO:0051540 | 5.55 |
| electron carrier activity | GO:0009055 | 4.97 |
| NADH dehydrogenase activity | GO:0003954 | 5.93 |
| binding | GO:0005488 | 0.18 |