| Disease ID | Disease name | Source of annotation with NDUFAF5 | 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 |
| 256000 | LEIGH SYNDROME | HUMSAVAR | link to OMIM | 27 | MT-ND5, NDUFAF2, NDUFA12, NDUFAF6, NDUFV1, NDUFA10, MTFMT, NDUFS8, BCS1L, SDHA, MT-CO3, COX10, NDUFA2, ECHS1, NDUFS3, MT-ATP6, SURF1, MT-ND3, IARS2, NARS2, NDUFS7, COX15, NDUFAF5, POLG, FOXRED1, NDUFS4, NDUFA9 |
Download the gene annotation in CSV format
| 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 |
|---|---|---|
| methyltransferase activity | GO:0008168 | 4.35 |
| transferase activity | GO:0016740 | 1.95 |
| transferase activity, transferring one-carbon groups | GO:0016741 | 4.3 |
| catalytic activity | GO:0003824 | 1.05 |