Gene table of MT-ND6 : mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MT-ND6	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
500001	LEBER OPTIC ATROPHY AND DYSTONIA	OMIM, HUMSAVAR	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
553000	ONCOCYTOMA	OMIM	link to OMIM	1	MT-ND6
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

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

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

Associated GO terms for Molecular function

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
NADH dehydrogenase activity	GO:0003954	5.93
oxidoreductase activity	GO:0016491	3.12