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

Gene-disease associations table

GeneAssociated with LEBER OPTIC ATROPHY AND DYSTONIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
MT-ND1OMIMHGNC linkMT6500008, 535000, 540000, 500001, 502500, 252010
MT-ND3OMIMHGNC linkMT3256000, 252010, 500001
MT-ND4OMIM, HUMSAVARHGNC linkMT3540000, 500001, 535000
MT-ND6OMIM, HUMSAVARHGNC linkMT5535000, 553000, 540000, 252010, 500001

Download the disease annotation in CSV format

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
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
MT-ND1MT-ND3Yesbinding43NDUFS8, 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-ND1MT-ND4Yesbinding43NDUFS8, 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-ND1MT-ND6Yesbinding40NDUFS8, 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-ND3MT-ND4Yesbinding43NDUFS8, 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-ND3MT-ND6Yesbinding40NDUFS8, 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-ND4MT-ND6Yesbinding40NDUFS8, 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

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

Interactions from CORUM
Gene1Gene2Direct InteractionComplexesNumber of shared interactorsShared genes in interaction
MT-ND1MT-ND3YesRespiratory chain complex I (gamma subunit) mitochondrial;Respiratory chain complex I (incomplete intermediate ND1, ND2, ND3, CIA30 assembly), mitochondrial;Respiratory chain complex I (holoenzyme), mitochondrial43NDUFS8, 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-ND1MT-ND4No-15NDUFAB1, NDUFB10, NDUFB6, MT-ND5, NDUFA4, NDUFB4, NDUFB2, NDUFB1, NDUFB9, NDUFB11, NDUFB7, NDUFB3, NDUFB8, NDUFB5, NDUFC2
MT-ND1MT-ND6YesRespiratory chain complex I (gamma subunit) mitochondrial;Respiratory chain complex I (holoenzyme), mitochondrial42NDUFS8, 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-ND3MT-ND4No-15NDUFAB1, NDUFB10, NDUFB6, MT-ND5, NDUFA4, NDUFB4, NDUFB2, NDUFB1, NDUFB9, NDUFB11, NDUFB7, NDUFB3, NDUFB8, NDUFB5, NDUFC2
MT-ND3MT-ND6YesRespiratory chain complex I (gamma subunit) mitochondrial;Respiratory chain complex I (holoenzyme), mitochondrial42NDUFS8, 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-ND4MT-ND6No-15NDUFAB1, NDUFB10, NDUFB6, MT-ND5, NDUFA4, NDUFB4, NDUFB2, NDUFB1, NDUFB9, NDUFB11, NDUFB7, NDUFB3, NDUFB8, NDUFB5, NDUFC2

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

KEGG termKEGG term IDICNumber of genes with the same termGenes
Metabolic pathwayshsa011002.494MT-ND6, MT-ND4, MT-ND3, MT-ND1
Oxidative phosphorylationhsa001905.694MT-ND6, MT-ND4, MT-ND3, MT-ND1
Parkinson's diseasehsa050125.594MT-ND6, MT-ND4, MT-ND3, MT-ND1

NET-GE enrichment

Term New enriched termICP valueGenes
Neurodegenerative diseasesNEW4.270.0MT-ND6, MT-ND4, MT-ND3, MT-ND1
Global and overview mapsNEW2.470.01MT-ND6, MT-ND4, MT-ND3, MT-ND1
MetabolismNEW2.060.03MT-ND6, MT-ND4, MT-ND3, MT-ND1
Oxidative phosphorylation (hsa00190) -5.690.0MT-ND6, MT-ND4, MT-ND3, MT-ND1
Metabolic pathways (hsa01100) -2.490.009MT-ND6, MT-ND4, MT-ND3, MT-ND1
Energy metabolismNEW5.420.0MT-ND6, MT-ND4, MT-ND3, MT-ND1
Parkinson's disease (hsa05012) -5.590.0MT-ND6, MT-ND4, MT-ND3, MT-ND1
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
The citric acid (TCA) cycle and respiratory electron transportR-HSA-14285175.714MT-ND6, MT-ND4, MT-ND3, MT-ND1
Respiratory electron transportR-HSA-6111056.444MT-ND6, MT-ND4, MT-ND3, MT-ND1
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.R-HSA-1632006.124MT-ND6, MT-ND4, MT-ND3, MT-ND1
MetabolismR-HSA-14307282.344MT-ND6, MT-ND4, MT-ND3, MT-ND1

NET-GE enrichment

Term New enriched termICP valueGenes
Metabolism (R-HSA-1430728) -2.340.008MT-ND6, MT-ND4, MT-ND3, MT-ND1
The citric acid (TCA) cycle and respiratory electron transport (R-HSA-1428517) -5.710.0MT-ND6, MT-ND4, MT-ND3, MT-ND1
Respiratory electron transport (R-HSA-611105) -6.440.0MT-ND6, MT-ND4, MT-ND3, MT-ND1
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. (R-HSA-163200) -6.120.0MT-ND6, MT-ND4, MT-ND3, MT-ND1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655) 5.664MT-ND6, MT-ND4, MT-ND3, MT-ND1
NADH dehydrogenase (ubiquinone) activity (GO:0008137) 5.934MT-ND6, MT-ND4, MT-ND3, MT-ND1
catalytic activity (GO:0003824) 1.054MT-ND6, MT-ND4, MT-ND3, MT-ND1
oxidoreductase activity, acting on NAD(P)H (GO:0016651) 5.134MT-ND6, MT-ND4, MT-ND3, MT-ND1
oxidoreductase activity (GO:0016491) 3.124MT-ND6, MT-ND4, MT-ND3, MT-ND1
NADH dehydrogenase activity (GO:0003954) 5.934MT-ND6, MT-ND4, MT-ND3, MT-ND1
NADH dehydrogenase (quinone) activity (GO:0050136) 5.934MT-ND6, MT-ND4, MT-ND3, MT-ND1
binding (GO:0005488) 0.182MT-ND3, MT-ND1
protein binding (GO:0005515) 0.462MT-ND3, MT-ND1

NET-GE enrichment

Term New enriched termICP valueGenes
NADH dehydrogenase (ubiquinone) activity (GO:0008137) -5.930.0MT-ND6, MT-ND4, MT-ND3, MT-ND1
oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655) -5.660.0MT-ND6, MT-ND4, MT-ND3, MT-ND1
oxidoreductase activity, acting on NAD(P)H (GO:0016651) -5.130.0MT-ND6, MT-ND4, MT-ND3, MT-ND1
oxidoreductase activity (GO:0016491) -3.120.001MT-ND6, MT-ND4, MT-ND3, MT-ND1
NADH dehydrogenase activity (GO:0003954) -5.930.0MT-ND6, MT-ND4, MT-ND3, MT-ND1
NADH dehydrogenase (quinone) activity (GO:0050136) -5.930.0MT-ND6, MT-ND4, MT-ND3, MT-ND1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular component assembly (GO:0022607) 2.144MT-ND6, MT-ND4, MT-ND3, MT-ND1
protein complex biogenesis (GO:0070271) 5.374MT-ND6, MT-ND4, MT-ND3, MT-ND1
macromolecular complex subunit organization (GO:0043933) 2.144MT-ND6, MT-ND4, MT-ND3, MT-ND1
cellular macromolecular complex assembly (GO:0034622) 3.184MT-ND6, MT-ND4, MT-ND3, MT-ND1
generation of precursor metabolites and energy (GO:0006091) 4.074MT-ND6, MT-ND4, MT-ND3, MT-ND1
response to organic cyclic compound (GO:0014070) 3.074MT-ND6, MT-ND4, MT-ND3, MT-ND1
single-organism metabolic process (GO:0044710) 1.634MT-ND6, MT-ND4, MT-ND3, MT-ND1
protein complex subunit organization (GO:0071822) 2.64MT-ND6, MT-ND4, MT-ND3, MT-ND1
mitochondrial respiratory chain complex I assembly (GO:0032981) 5.64MT-ND6, MT-ND4, MT-ND3, MT-ND1
NADH dehydrogenase complex assembly (GO:0010257) 5.64MT-ND6, MT-ND4, MT-ND3, MT-ND1
cellular component organization (GO:0016043) 1.244MT-ND6, MT-ND4, MT-ND3, MT-ND1
macromolecular complex assembly (GO:0065003) 2.554MT-ND6, MT-ND4, MT-ND3, MT-ND1
electron transport chain (GO:0022900) 5.094MT-ND6, MT-ND4, MT-ND3, MT-ND1
cellular component organization or biogenesis (GO:0071840) 1.224MT-ND6, MT-ND4, MT-ND3, MT-ND1
respiratory electron transport chain (GO:0022904) 5.114MT-ND6, MT-ND4, MT-ND3, MT-ND1
mitochondrial respiratory chain complex assembly (GO:0033108) 5.314MT-ND6, MT-ND4, MT-ND3, MT-ND1
cellular process (GO:0009987) 0.264MT-ND6, MT-ND4, MT-ND3, MT-ND1
protein complex assembly (GO:0006461) 2.784MT-ND6, MT-ND4, MT-ND3, MT-ND1
response to stress (GO:0006950) 1.84MT-ND6, MT-ND4, MT-ND3, MT-ND1
single-organism cellular process (GO:0044763) 0.654MT-ND6, MT-ND4, MT-ND3, MT-ND1
metabolic process (GO:0008152) 0.584MT-ND6, MT-ND4, MT-ND3, MT-ND1
response to chemical (GO:0042221) 1.984MT-ND6, MT-ND4, MT-ND3, MT-ND1
cellular protein complex assembly (GO:0043623) 3.94MT-ND6, MT-ND4, MT-ND3, MT-ND1
response to organic substance (GO:0010033) 2.24MT-ND6, MT-ND4, MT-ND3, MT-ND1
oxidation-reduction process (GO:0055114) 2.914MT-ND6, MT-ND4, MT-ND3, MT-ND1
single-organism process (GO:0044699) 0.484MT-ND6, MT-ND4, MT-ND3, MT-ND1
response to stimulus (GO:0050896) 1.224MT-ND6, MT-ND4, MT-ND3, MT-ND1
cellular metabolic process (GO:0044237) 0.694MT-ND6, MT-ND4, MT-ND3, MT-ND1
mitochondrial electron transport, NADH to ubiquinone (GO:0006120) 5.844MT-ND6, MT-ND4, MT-ND3, MT-ND1
cellular component biogenesis (GO:0044085) 4.464MT-ND6, MT-ND4, MT-ND3, MT-ND1
mitochondrial respiratory chain complex I biogenesis (GO:0097031) 5.64MT-ND6, MT-ND4, MT-ND3, MT-ND1
response to endogenous stimulus (GO:0009719) 2.793MT-ND4, MT-ND6, MT-ND3
response to oxygen-containing compound (GO:1901700) 2.573MT-ND4, MT-ND6, MT-ND1
response to oxidative stress (GO:0006979) 3.93MT-ND6, MT-ND3, MT-ND1
response to alkaloid (GO:0043279) 4.832MT-ND4, MT-ND6
response to nitrogen compound (GO:1901698) 3.122MT-ND4, MT-ND6
response to abiotic stimulus (GO:0009628) 2.82MT-ND4, MT-ND3
response to nicotine (GO:0035094) 5.782MT-ND4, MT-ND6
response to organonitrogen compound (GO:0010243) 3.22MT-ND4, MT-ND6

NET-GE enrichment

Term New enriched termICP valueGenes
mitochondrial electron transport, NADH to ubiquinone (GO:0006120) -5.840.0MT-ND4, MT-ND3, MT-ND1
electron transport chain (GO:0022900) -5.090.0MT-ND6, MT-ND4, MT-ND3, MT-ND1
small molecule metabolic process (GO:0044281) NEW2.380.007MT-ND6, MT-ND4, MT-ND3, MT-ND1
respiratory electron transport chain (GO:0022904) -5.110.0MT-ND6, MT-ND4, MT-ND3, MT-ND1
generation of precursor metabolites and energy (GO:0006091) -4.070.0MT-ND6, MT-ND4, MT-ND3, MT-ND1
oxidation-reduction process (GO:0055114) -2.910.014MT-ND6, MT-ND4, MT-ND3, MT-ND1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
organelle membrane (GO:0031090) 1.974MT-ND6, MT-ND4, MT-ND3, MT-ND1
cell part (GO:0044464) 0.114MT-ND6, MT-ND4, MT-ND3, MT-ND1
integral component of membrane (GO:0016021) 1.144MT-ND6, MT-ND4, MT-ND3, MT-ND1
membrane (GO:0016020) 0.684MT-ND6, MT-ND4, MT-ND3, MT-ND1
organelle inner membrane (GO:0019866) 3.564MT-ND6, MT-ND4, MT-ND3, MT-ND1
cytoplasmic part (GO:0044444) 0.824MT-ND6, MT-ND4, MT-ND3, MT-ND1
mitochondrion (GO:0005739) 2.424MT-ND6, MT-ND4, MT-ND3, MT-ND1
mitochondrial membrane (GO:0031966) 3.314MT-ND6, MT-ND4, MT-ND3, MT-ND1
intracellular organelle part (GO:0044446) 0.814MT-ND6, MT-ND4, MT-ND3, MT-ND1
mitochondrial inner membrane (GO:0005743) 3.654MT-ND6, MT-ND4, MT-ND3, MT-ND1
intracellular organelle (GO:0043229) 0.514MT-ND6, MT-ND4, MT-ND3, MT-ND1
organelle part (GO:0044422) 0.794MT-ND6, MT-ND4, MT-ND3, MT-ND1
mitochondrial part (GO:0044429) 2.924MT-ND6, MT-ND4, MT-ND3, MT-ND1
intracellular part (GO:0044424) 0.284MT-ND6, MT-ND4, MT-ND3, MT-ND1
membrane part (GO:0044425) 0.954MT-ND6, MT-ND4, MT-ND3, MT-ND1
respiratory chain (GO:0070469) 5.514MT-ND6, MT-ND4, MT-ND3, MT-ND1
membrane-bounded organelle (GO:0043227) 0.474MT-ND6, MT-ND4, MT-ND3, MT-ND1
organelle (GO:0043226) 0.44MT-ND6, MT-ND4, MT-ND3, MT-ND1
intrinsic component of membrane (GO:0031224) 1.134MT-ND6, MT-ND4, MT-ND3, MT-ND1
intracellular membrane-bounded organelle (GO:0043231) 0.64MT-ND6, MT-ND4, MT-ND3, MT-ND1
protein complex (GO:0043234) 1.513MT-ND4, MT-ND3, MT-ND1
respiratory chain complex I (GO:0045271) 5.913MT-ND4, MT-ND3, MT-ND1
macromolecular complex (GO:0032991) 1.353MT-ND4, MT-ND3, MT-ND1
catalytic complex (GO:1902494) 2.93MT-ND4, MT-ND3, MT-ND1
NADH dehydrogenase complex (GO:0030964) 5.913MT-ND4, MT-ND3, MT-ND1
respiratory chain complex (GO:0098803) 5.473MT-ND4, MT-ND3, MT-ND1
inner mitochondrial membrane protein complex (GO:0098800) 5.013MT-ND4, MT-ND3, MT-ND1
mitochondrial membrane part (GO:0044455) 4.543MT-ND4, MT-ND3, MT-ND1
membrane protein complex (GO:0098796) 2.843MT-ND4, MT-ND3, MT-ND1
mitochondrial respiratory chain complex I (GO:0005747) 5.913MT-ND4, MT-ND3, MT-ND1
oxidoreductase complex (GO:1990204) 5.193MT-ND4, MT-ND3, MT-ND1
mitochondrial protein complex (GO:0098798) 4.783MT-ND4, MT-ND3, MT-ND1

NET-GE enrichment

Term New enriched termICP valueGenes
respiratory chain complex I (GO:0045271) -5.910.0MT-ND4, MT-ND3, MT-ND1
catalytic complex (GO:1902494) -2.90.006MT-ND4, MT-ND3, MT-ND1
NADH dehydrogenase complex (GO:0030964) -5.910.0MT-ND4, MT-ND3, MT-ND1
organelle inner membrane (GO:0019866) -3.560.0MT-ND6, MT-ND4, MT-ND3, MT-ND1
organelle membrane (GO:0031090) -1.970.008MT-ND6, MT-ND4, MT-ND3, MT-ND1
mitochondrial membrane (GO:0031966) -3.310.0MT-ND6, MT-ND4, MT-ND3, MT-ND1
mitochondrial membrane part (GO:0044455) -4.540.0MT-ND4, MT-ND3, MT-ND1
mitochondrial inner membrane (GO:0005743) -3.650.0MT-ND6, MT-ND4, MT-ND3, MT-ND1
mitochondrial part (GO:0044429) -2.920.002MT-ND6, MT-ND4, MT-ND3, MT-ND1
oxidoreductase complex (GO:1990204) -5.190.0MT-ND4, MT-ND3, MT-ND1
mitochondrial respiratory chain complex I (GO:0005747) -5.910.0MT-ND4, MT-ND3, MT-ND1