Disease table of LEBER OPTIC ATROPHY AND DYSTONIA OMIM ID: 500001

Gene-disease associations table

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Gene	Associated with LEBER OPTIC ATROPHY AND DYSTONIA in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
MT-ND1	OMIM	HGNC link	MT	6	500008, 535000, 540000, 500001, 502500, 252010
MT-ND3	OMIM	HGNC link	MT	3	256000, 252010, 500001
MT-ND4	OMIM, HUMSAVAR	HGNC link	MT	3	540000, 500001, 535000
MT-ND6	OMIM, HUMSAVAR	HGNC link	MT	5	535000, 553000, 540000, 252010, 500001

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Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

Interactions from BIOGRID - physical

Interactions from BIOGRID - genetic

Interactions from STRING

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Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
MT-ND1	MT-ND3	Yes	binding	43	NDUFS8, NDUFV2, NDUFB11, MT-ND2, NDUFS5, NDUFA1, MT-ND4L, NDUFB1, NDUFS1, NDUFA13, NDUFA7, NDUFS7, NDUFB4, NDUFS3, NDUFB7, NDUFA8, NDUFA6, NDUFA9, NDUFA12, NDUFA5, NDUFAB1, NDUFA11, NDUFC1, MT-ND6, NDUFB6, NDUFB8, NDUFV1, NDUFA10, NDUFS2, NDUFB10, MT-ND5, NDUFB2, NDUFS4, MT-ND4, NDUFB9, NDUFA2, NDUFS6, NDUFAF1, NDUFB3, NDUFB5, NDUFA4, NDUFV3, NDUFC2
MT-ND1	MT-ND4	Yes	binding	43	NDUFS8, NDUFV2, NDUFB11, MT-ND2, NDUFS5, NDUFA1, MT-ND4L, NDUFB1, NDUFS1, NDUFA13, NDUFA7, NDUFS7, NDUFB4, NDUFS3, NDUFB7, NDUFA8, NDUFA6, NDUFA12, MT-ND3, NDUFA5, NDUFAB1, NDUFA11, NDUFC1, MT-ND6, NDUFB6, NDUFB8, NDUFV1, NDUFA10, NDUFS2, NDUFB10, MT-ND5, NDUFB2, NDUFS4, NDUFA4, NDUFB9, NDUFA2, NDUFS6, NDUFAF1, NDUFB3, NDUFB5, NDUFA9, NDUFV3, NDUFC2
MT-ND1	MT-ND6	Yes	binding	40	NDUFS8, NDUFV2, NDUFB11, MT-ND2, NDUFS5, NDUFA1, MT-ND4L, NDUFB1, NDUFS1, NDUFA13, NDUFA5, NDUFS7, NDUFB4, NDUFS3, NDUFB7, NDUFA8, NDUFV1, NDUFA9, NDUFA12, MT-ND3, NDUFAB1, NDUFA11, NDUFC1, NDUFB6, NDUFB8, NDUFS6, NDUFA10, NDUFS2, NDUFB10, MT-ND5, NDUFB2, NDUFS4, MT-ND4, NDUFB9, NDUFA2, NDUFB3, NDUFB5, NDUFA4, NDUFV3, NDUFC2
MT-ND3	MT-ND4	Yes	binding	43	NDUFS8, NDUFV2, MT-ND1, MT-ND2, NDUFS5, NDUFA1, MT-ND4L, NDUFB1, NDUFS1, NDUFA13, NDUFA7, NDUFS7, NDUFB4, NDUFS3, NDUFB7, NDUFA8, NDUFA6, NDUFA12, NDUFA5, NDUFAB1, NDUFA11, NDUFC1, MT-ND6, NDUFB11, NDUFB6, NDUFB8, NDUFV1, NDUFA10, NDUFS2, NDUFB10, NDUFB2, MT-ND5, NDUFS4, NDUFA4, NDUFB9, NDUFA2, NDUFS6, NDUFAF1, NDUFB3, NDUFB5, NDUFA9, NDUFV3, NDUFC2
MT-ND3	MT-ND6	Yes	binding	40	NDUFS8, NDUFV2, MT-ND1, MT-ND2, NDUFS5, NDUFA1, MT-ND4L, NDUFB1, NDUFS1, NDUFA13, NDUFA5, NDUFS7, NDUFB4, NDUFS3, NDUFB7, NDUFA8, NDUFV1, NDUFA9, NDUFA12, NDUFAB1, NDUFA11, NDUFC1, NDUFB11, NDUFB6, NDUFB8, NDUFS6, NDUFA10, NDUFS2, NDUFB10, MT-ND5, NDUFB2, NDUFS4, MT-ND4, NDUFB9, NDUFA2, NDUFB3, NDUFB5, NDUFA4, NDUFV3, NDUFC2
MT-ND4	MT-ND6	Yes	binding	40	NDUFS8, NDUFV2, MT-ND1, MT-ND2, NDUFS5, NDUFA1, MT-ND4L, NDUFB1, NDUFS1, NDUFA13, NDUFA5, NDUFS7, NDUFB4, NDUFS3, NDUFB7, NDUFA8, NDUFV1, NDUFA12, MT-ND3, NDUFAB1, NDUFA11, NDUFC1, NDUFB11, NDUFB6, NDUFB8, NDUFS6, NDUFA10, NDUFS2, NDUFB10, MT-ND5, NDUFB2, NDUFS4, NDUFA4, NDUFB9, NDUFA2, NDUFB3, NDUFB5, NDUFA9, NDUFV3, NDUFC2

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Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM

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Gene1	Gene2	Direct Interaction	Complexes	Number of shared interactors	Shared genes in interaction
MT-ND1	MT-ND3	Yes	Respiratory chain complex I (gamma subunit) mitochondrial;Respiratory chain complex I (incomplete intermediate ND1, ND2, ND3, CIA30 assembly), mitochondrial;Respiratory chain complex I (holoenzyme), mitochondrial	43	NDUFS8, NDUFV2, NDUFB11, NDUFB9, NDUFS5, NDUFA1, MT-ND4L, NDUFB1, NDUFA3, NDUFS1, MT-ND2, NDUFA13, NDUFA7, NDUFS7, NDUFB4, NDUFS3, NDUFB7, NDUFA8, NDUFV1, NDUFA12, NDUFA5, NDUFAB1, NDUFA11, NDUFC1, MT-ND6, NDUFB6, NDUFB8, NDUFA6, NDUFA10, NDUFS2, NDUFB10, MT-ND5, NDUFB2, NDUFS4, NDUFA4, NDUFAF1, NDUFA2, NDUFS6, NDUFB3, NDUFB5, NDUFA9, NDUFV3, NDUFC2
MT-ND1	MT-ND6	Yes	Respiratory chain complex I (gamma subunit) mitochondrial;Respiratory chain complex I (holoenzyme), mitochondrial	42	NDUFS8, NDUFV2, NDUFB11, NDUFB9, NDUFS5, NDUFA1, MT-ND4L, NDUFB1, NDUFA3, NDUFS1, NDUFA13, NDUFA7, NDUFS7, NDUFB4, NDUFS3, NDUFB7, NDUFA8, NDUFV1, NDUFA12, MT-ND3, NDUFA5, NDUFAB1, NDUFA11, NDUFC1, NDUFB6, NDUFB8, NDUFA6, NDUFA10, NDUFS2, NDUFB10, MT-ND5, NDUFB2, NDUFS4, NDUFA4, MT-ND2, NDUFA2, NDUFS6, NDUFB3, NDUFB5, NDUFA9, NDUFV3, NDUFC2
MT-ND3	MT-ND6	Yes	Respiratory chain complex I (gamma subunit) mitochondrial;Respiratory chain complex I (holoenzyme), mitochondrial	42	NDUFS8, NDUFV2, MT-ND1, NDUFB9, NDUFS5, NDUFA1, MT-ND4L, NDUFB1, NDUFA3, NDUFS1, NDUFA13, NDUFA7, NDUFS7, NDUFB4, NDUFS3, NDUFB7, NDUFA8, NDUFV1, NDUFA12, NDUFA5, NDUFAB1, NDUFA11, NDUFC1, NDUFB11, NDUFB6, NDUFB8, NDUFA6, NDUFA10, NDUFS2, NDUFB10, MT-ND5, NDUFB2, NDUFS4, NDUFA4, MT-ND2, NDUFA2, NDUFS6, NDUFB3, NDUFB5, NDUFA9, NDUFV3, NDUFC2
MT-ND1	MT-ND4	No	-	15	NDUFAB1, NDUFB10, NDUFB6, MT-ND5, NDUFA4, NDUFB4, NDUFB2, NDUFB1, NDUFB9, NDUFB11, NDUFB7, NDUFB3, NDUFB8, NDUFB5, NDUFC2
MT-ND3	MT-ND4	No	-	15	NDUFAB1, NDUFB10, NDUFB6, MT-ND5, NDUFA4, NDUFB4, NDUFB2, NDUFB1, NDUFB9, NDUFB11, NDUFB7, NDUFB3, NDUFB8, NDUFB5, NDUFC2
MT-ND4	MT-ND6	No	-	15	NDUFAB1, NDUFB10, NDUFB6, MT-ND5, NDUFA4, NDUFB4, NDUFB2, NDUFB1, NDUFB9, NDUFB11, NDUFB7, NDUFB3, NDUFB8, NDUFB5, NDUFC2

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Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

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KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Oxidative phosphorylation	hsa00190	5.69	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
Parkinson's disease	hsa05012	5.59	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
Metabolic pathways	hsa01100	2.49	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Oxidative phosphorylation (hsa00190)	-	5.69	0.0	MT-ND6, MT-ND4, MT-ND3, MT-ND1
Parkinson's disease (hsa05012)	-	5.59	0.0	MT-ND6, MT-ND4, MT-ND3, MT-ND1
Energy metabolism	NEW	5.42	0.0	MT-ND6, MT-ND4, MT-ND3, MT-ND1
Neurodegenerative diseases	NEW	4.27	0.0	MT-ND6, MT-ND4, MT-ND3, MT-ND1
Metabolic pathways (hsa01100)	-	2.49	0.009	MT-ND6, MT-ND4, MT-ND3, MT-ND1
Global and overview maps	NEW	2.47	0.01	MT-ND6, MT-ND4, MT-ND3, MT-ND1
Metabolism	NEW	2.06	0.03	MT-ND6, MT-ND4, MT-ND3, MT-ND1

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REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

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REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Respiratory electron transport	R-HSA-611105	6.44	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	R-HSA-163200	6.12	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
The citric acid (TCA) cycle and respiratory electron transport	R-HSA-1428517	5.71	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
Metabolism	R-HSA-1430728	2.34	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Respiratory electron transport (R-HSA-611105)	-	6.44	0.0	MT-ND6, MT-ND4, MT-ND3, MT-ND1
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. (R-HSA-163200)	-	6.12	0.0	MT-ND6, MT-ND4, MT-ND3, MT-ND1
The citric acid (TCA) cycle and respiratory electron transport (R-HSA-1428517)	-	5.71	0.0	MT-ND6, MT-ND4, MT-ND3, MT-ND1
Metabolism (R-HSA-1430728)	-	2.34	0.008	MT-ND6, MT-ND4, MT-ND3, MT-ND1

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GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
NADH dehydrogenase (ubiquinone) activity (GO:0008137)	5.93	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
NADH dehydrogenase activity (GO:0003954)	5.93	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
NADH dehydrogenase (quinone) activity (GO:0050136)	5.93	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)	5.66	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
oxidoreductase activity, acting on NAD(P)H (GO:0016651)	5.13	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
oxidoreductase activity (GO:0016491)	3.12	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
catalytic activity (GO:0003824)	1.05	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
protein binding (GO:0005515)	0.46	2	MT-ND3, MT-ND1
binding (GO:0005488)	0.18	2	MT-ND3, MT-ND1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
NADH dehydrogenase (ubiquinone) activity (GO:0008137)	-	5.93	0.0	MT-ND6, MT-ND4, MT-ND3, MT-ND1
NADH dehydrogenase activity (GO:0003954)	-	5.93	0.0	MT-ND6, MT-ND4, MT-ND3, MT-ND1
NADH dehydrogenase (quinone) activity (GO:0050136)	-	5.93	0.0	MT-ND6, MT-ND4, MT-ND3, MT-ND1
oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)	-	5.66	0.0	MT-ND6, MT-ND4, MT-ND3, MT-ND1
oxidoreductase activity, acting on NAD(P)H (GO:0016651)	-	5.13	0.0	MT-ND6, MT-ND4, MT-ND3, MT-ND1
oxidoreductase activity (GO:0016491)	-	3.12	0.001	MT-ND6, MT-ND4, MT-ND3, MT-ND1

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GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	5.84	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
response to nicotine (GO:0035094)	5.78	2	MT-ND4, MT-ND6
mitochondrial respiratory chain complex I assembly (GO:0032981)	5.6	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
NADH dehydrogenase complex assembly (GO:0010257)	5.6	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
mitochondrial respiratory chain complex I biogenesis (GO:0097031)	5.6	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
protein complex biogenesis (GO:0070271)	5.37	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
mitochondrial respiratory chain complex assembly (GO:0033108)	5.31	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
respiratory electron transport chain (GO:0022904)	5.11	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
electron transport chain (GO:0022900)	5.09	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
response to alkaloid (GO:0043279)	4.83	2	MT-ND4, MT-ND6

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	-	5.84	0.0	MT-ND4, MT-ND3, MT-ND1
respiratory electron transport chain (GO:0022904)	-	5.11	0.0	MT-ND6, MT-ND4, MT-ND3, MT-ND1
electron transport chain (GO:0022900)	-	5.09	0.0	MT-ND6, MT-ND4, MT-ND3, MT-ND1
generation of precursor metabolites and energy (GO:0006091)	-	4.07	0.0	MT-ND6, MT-ND4, MT-ND3, MT-ND1
oxidation-reduction process (GO:0055114)	-	2.91	0.014	MT-ND6, MT-ND4, MT-ND3, MT-ND1
small molecule metabolic process (GO:0044281)	NEW	2.38	0.007	MT-ND6, MT-ND4, MT-ND3, MT-ND1

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GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
respiratory chain complex I (GO:0045271)	5.91	3	MT-ND4, MT-ND3, MT-ND1
NADH dehydrogenase complex (GO:0030964)	5.91	3	MT-ND4, MT-ND3, MT-ND1
mitochondrial respiratory chain complex I (GO:0005747)	5.91	3	MT-ND4, MT-ND3, MT-ND1
respiratory chain (GO:0070469)	5.51	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1
respiratory chain complex (GO:0098803)	5.47	3	MT-ND4, MT-ND3, MT-ND1
oxidoreductase complex (GO:1990204)	5.19	3	MT-ND4, MT-ND3, MT-ND1
inner mitochondrial membrane protein complex (GO:0098800)	5.01	3	MT-ND4, MT-ND3, MT-ND1
mitochondrial protein complex (GO:0098798)	4.78	3	MT-ND4, MT-ND3, MT-ND1
mitochondrial membrane part (GO:0044455)	4.54	3	MT-ND4, MT-ND3, MT-ND1
mitochondrial inner membrane (GO:0005743)	3.65	4	MT-ND6, MT-ND4, MT-ND3, MT-ND1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
respiratory chain complex I (GO:0045271)	-	5.91	0.0	MT-ND4, MT-ND3, MT-ND1
NADH dehydrogenase complex (GO:0030964)	-	5.91	0.0	MT-ND4, MT-ND3, MT-ND1
mitochondrial respiratory chain complex I (GO:0005747)	-	5.91	0.0	MT-ND4, MT-ND3, MT-ND1
oxidoreductase complex (GO:1990204)	-	5.19	0.0	MT-ND4, MT-ND3, MT-ND1
mitochondrial membrane part (GO:0044455)	-	4.54	0.0	MT-ND4, MT-ND3, MT-ND1
mitochondrial inner membrane (GO:0005743)	-	3.65	0.0	MT-ND6, MT-ND4, MT-ND3, MT-ND1
organelle inner membrane (GO:0019866)	-	3.56	0.0	MT-ND6, MT-ND4, MT-ND3, MT-ND1
mitochondrial membrane (GO:0031966)	-	3.31	0.0	MT-ND6, MT-ND4, MT-ND3, MT-ND1
mitochondrial part (GO:0044429)	-	2.92	0.002	MT-ND6, MT-ND4, MT-ND3, MT-ND1
catalytic complex (GO:1902494)	-	2.9	0.006	MT-ND4, MT-ND3, MT-ND1

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