Disease ID | Disease name | Source of annotation with NDUFAF2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
252010 | MITOCHONDRIAL COMPLEX I DEFICIENCY | OMIM | 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 | OMIM | 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 |
---|---|---|
catalytic activity | GO:0003824 | 1.05 |
NADH dehydrogenase (ubiquinone) activity | GO:0008137 | 5.93 |
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 |
oxidoreductase activity, acting on NAD(P)H | GO:0016651 | 5.13 |
oxidoreductase activity | GO:0016491 | 3.12 |
NADH dehydrogenase activity | GO:0003954 | 5.93 |
electron carrier activity | GO:0009055 | 4.97 |