Disease table of MYOGLOBINURIA, RECURRENT OMIM ID: 550500

Gene-disease associations table

GeneAssociated with MYOGLOBINURIA, RECURRENT inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
MT-CYBOMIMHGNC linkMT4550500, 500000, 520100, 535000
MT-CO1OMIMHGNC linkMT4550500, 500008, 220110, 114500
MT-CO3OMIMHGNC linkMT4540000, 550500, 535000, 256000

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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
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
MT-CYBMT-CO1Yesactivation, binding23CYCS, UQCRQ, CYC1, UQCRB, BCS1L, COX6C, COX5A, COX4I2, UQCRH, PMPCB, MT-CO3, COX6A2, COX7C, MT-CO2, UQCRC2, UQCRC1, COX5B, UQCR10, NDUFA4, COX6A1, COX6B1, COX4I1, UQCRFS1
MT-CYBMT-CO3Yesactivation, binding22MT-CO1, CYCS, UQCRQ, CYC1, COX6A1, BCS1L, COX6C, COX5A, COX4I2, UQCRC1, UQCRB, COX6A2, COX7C, MT-CO2, UQCRC2, UQCRH, COX5B, UQCR10, NDUFA4, COX4I1, COX6B1, UQCRFS1
MT-CO1MT-CO3Yesbinding28UQCRC2, UQCRQ, CYC1, COX6A1, BCS1L, COX6C, COX5A, MT-ATP6, COX4I2, COX6A1P2, COX7A2L, UQCRH, UQCRB, COX6B2, COA6, COX6A2, COX7C, MT-CO2, CYCS, UQCRC1, COX5B, UQCR10, MT-CYB, NDUFA4, COX8A, UQCRFS1, COX4I1, COX6B1

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

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
MT-CO1MT-CO3yes, complexSubunits MT-CO 1-3 form the functional core of the enzyme complex; component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex. [Uniprot]
MT-CO1MT-CYByes, maybe indirectSubunits MT-CO 1-3 form the functional core of the enzyme complex; component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex. [Uniprot]
MT-CO3MT-CYByes, maybe indirectSubunits MT-CO 1-3 form the functional core of the enzyme complex; component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex. [Uniprot]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Oxidative phosphorylationhsa001905.693MT-CO1, MT-CO3, MT-CYB
Cardiac muscle contractionhsa042606.343MT-CO1, MT-CO3, MT-CYB
Metabolic pathwayshsa011002.493MT-CO1, MT-CO3, MT-CYB
Parkinson's diseasehsa050125.593MT-CO1, MT-CO3, MT-CYB
Huntington's diseasehsa050165.173MT-CO1, MT-CO3, MT-CYB
Alzheimer's diseasehsa050105.343MT-CO1, MT-CO3, MT-CYB
Non-alcoholic fatty liver disease (NAFLD)hsa049325.513MT-CO1, MT-CO3, MT-CYB

NET-GE enrichment

Term New enriched termICP valueGenes
Neurodegenerative diseasesNEW4.270.002MT-CO1, MT-CO3, MT-CYB
Endocrine and metabolic diseasesNEW4.750.001MT-CO1, MT-CO3, MT-CYB
Oxidative phosphorylation (hsa00190) -5.690.0MT-CO1, MT-CO3, MT-CYB
Alzheimer's disease (hsa05010) -5.340.001MT-CO1, MT-CO3, MT-CYB
Energy metabolismNEW5.420.0MT-CO1, MT-CO3, MT-CYB
Circulatory systemNEW4.630.001MT-CO1, MT-CO3, MT-CYB
Non-alcoholic fatty liver disease (NAFLD) (hsa04932) -5.510.001MT-CO1, MT-CO3, MT-CYB
Huntington's disease (hsa05016) -5.170.001MT-CO1, MT-CO3, MT-CYB
Cardiac muscle contraction (hsa04260) -6.340.0MT-CO1, MT-CO3, MT-CYB
Parkinson's disease (hsa05012) -5.590.0MT-CO1, MT-CO3, MT-CYB
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
MetabolismR-HSA-14307282.343MT-CO1, MT-CO3, MT-CYB
Respiratory electron transportR-HSA-6111056.443MT-CO1, MT-CO3, MT-CYB
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.R-HSA-1632006.123MT-CO1, MT-CO3, MT-CYB
The citric acid (TCA) cycle and respiratory electron transportR-HSA-14285175.713MT-CO1, MT-CO3, MT-CYB
Generic Transcription PathwayR-HSA-2124363.862MT-CO1, MT-CO3
Transcriptional Regulation by TP53R-HSA-37009896.732MT-CO1, MT-CO3
TP53 Regulates Metabolic GenesR-HSA-56288976.732MT-CO1, MT-CO3
Gene ExpressionR-HSA-741602.722MT-CO1, MT-CO3

NET-GE enrichment

Term New enriched termICP valueGenes
Transcriptional Regulation by TP53 (R-HSA-3700989) -6.730.0MT-CO1, MT-CO3, MT-CYB
Respiratory electron transport (R-HSA-611105) -6.440.0MT-CO1, MT-CO3, MT-CYB
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. (R-HSA-163200) -6.120.0MT-CO1, MT-CO3, MT-CYB
Generic Transcription Pathway (R-HSA-212436) -3.860.027MT-CO1, MT-CO3, MT-CYB
The citric acid (TCA) cycle and respiratory electron transport (R-HSA-1428517) -5.710.0MT-CO1, MT-CO3, MT-CYB
TP53 Regulates Metabolic Genes (R-HSA-5628897) -6.730.0MT-CO1, MT-CO3, MT-CYB
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
substrate-specific transmembrane transporter activity (GO:0022891) 2.93MT-CO1, MT-CO3, MT-CYB
inorganic cation transmembrane transporter activity (GO:0022890) 3.493MT-CO1, MT-CO3, MT-CYB
substrate-specific transporter activity (GO:0022892) 2.723MT-CO1, MT-CO3, MT-CYB
transporter activity (GO:0005215) 2.573MT-CO1, MT-CO3, MT-CYB
cation transmembrane transporter activity (GO:0008324) 3.323MT-CO1, MT-CO3, MT-CYB
monovalent inorganic cation transmembrane transporter activity (GO:0015077) 3.873MT-CO1, MT-CO3, MT-CYB
ion transmembrane transporter activity (GO:0015075) 3.043MT-CO1, MT-CO3, MT-CYB
catalytic activity (GO:0003824) 1.053MT-CO1, MT-CO3, MT-CYB
transmembrane transporter activity (GO:0022857) 2.823MT-CO1, MT-CO3, MT-CYB
binding (GO:0005488) 0.183MT-CO1, MT-CO3, MT-CYB
protein binding (GO:0005515) 0.463MT-CO1, MT-CO3, MT-CYB
electron carrier activity (GO:0009055) 4.973MT-CO1, MT-CO3, MT-CYB
hydrogen ion transmembrane transporter activity (GO:0015078) 5.013MT-CO1, MT-CO3, MT-CYB
oxidoreductase activity (GO:0016491) 3.123MT-CO1, MT-CO3, MT-CYB
cytochrome-c oxidase activity (GO:0004129) 6.342MT-CO1, MT-CO3
cation binding (GO:0043169) 1.42MT-CO1, MT-CYB
ion binding (GO:0043167) 1.362MT-CO1, MT-CYB
oxidoreductase activity, acting on a heme group of donors, oxygen as acceptor (GO:0016676) 6.342MT-CO1, MT-CO3
oxidoreductase activity, acting on a heme group of donors (GO:0016675) 6.32MT-CO1, MT-CO3
metal ion binding (GO:0046872) 1.412MT-CO1, MT-CYB
heme-copper terminal oxidase activity (GO:0015002) 6.342MT-CO1, MT-CO3

NET-GE enrichment

Term New enriched termICP valueGenes
inorganic cation transmembrane transporter activity (GO:0022890) -3.490.014MT-CO1, MT-CO3, MT-CYB
heme binding (GO:0020037) NEW4.860.048MT-CO1, MT-CYB
cation transmembrane transporter activity (GO:0008324) -3.320.028MT-CO1, MT-CO3, MT-CYB
monovalent inorganic cation transmembrane transporter activity (GO:0015077) -3.870.004MT-CO1, MT-CO3, MT-CYB
hydrogen ion transmembrane transporter activity (GO:0015078) -5.010.0MT-CO1, MT-CO3, MT-CYB
electron carrier activity (GO:0009055) -4.970.003MT-CO3, MT-CYB
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
hydrogen ion transmembrane transport (GO:1902600) 4.973MT-CO1, MT-CO3, MT-CYB
generation of precursor metabolites and energy (GO:0006091) 4.073MT-CO1, MT-CO3, MT-CYB
single-organism process (GO:0044699) 0.483MT-CO1, MT-CO3, MT-CYB
single-organism metabolic process (GO:0044710) 1.633MT-CO1, MT-CO3, MT-CYB
proton transport (GO:0015992) 4.733MT-CO1, MT-CO3, MT-CYB
localization (GO:0051179) 1.43MT-CO1, MT-CO3, MT-CYB
electron transport chain (GO:0022900) 5.093MT-CO1, MT-CO3, MT-CYB
inorganic cation transmembrane transport (GO:0098662) 3.553MT-CO1, MT-CO3, MT-CYB
inorganic ion transmembrane transport (GO:0098660) 3.383MT-CO1, MT-CO3, MT-CYB
single-organism localization (GO:1902578) 2.093MT-CO1, MT-CO3, MT-CYB
monovalent inorganic cation transport (GO:0015672) 3.743MT-CO1, MT-CO3, MT-CYB
hydrogen transport (GO:0006818) 4.723MT-CO1, MT-CO3, MT-CYB
cation transport (GO:0006812) 3.113MT-CO1, MT-CO3, MT-CYB
ion transport (GO:0006811) 2.663MT-CO1, MT-CO3, MT-CYB
transport (GO:0006810) 1.513MT-CO1, MT-CO3, MT-CYB
ion transmembrane transport (GO:0034220) 3.083MT-CO1, MT-CO3, MT-CYB
single-organism transport (GO:0044765) 2.183MT-CO1, MT-CO3, MT-CYB
single-organism cellular process (GO:0044763) 0.653MT-CO1, MT-CO3, MT-CYB
metabolic process (GO:0008152) 0.583MT-CO1, MT-CO3, MT-CYB
respiratory electron transport chain (GO:0022904) 5.113MT-CO1, MT-CO3, MT-CYB
establishment of localization (GO:0051234) 1.483MT-CO1, MT-CO3, MT-CYB
transmembrane transport (GO:0055085) 2.723MT-CO1, MT-CO3, MT-CYB
oxidation-reduction process (GO:0055114) 2.913MT-CO1, MT-CO3, MT-CYB
cellular metabolic process (GO:0044237) 0.693MT-CO1, MT-CO3, MT-CYB
cellular process (GO:0009987) 0.263MT-CO1, MT-CO3, MT-CYB
cation transmembrane transport (GO:0098655) 3.433MT-CO1, MT-CO3, MT-CYB
developmental process (GO:0032502) 1.362MT-CO1, MT-CYB
response to abiotic stimulus (GO:0009628) 2.82MT-CO1, MT-CYB
energy derivation by oxidation of organic compounds (GO:0015980) 4.932MT-CO1, MT-CO3
response to copper ion (GO:0046688) 6.292MT-CO1, MT-CYB
response to stimulus (GO:0050896) 1.222MT-CO1, MT-CYB
anatomical structure development (GO:0048856) 1.582MT-CO1, MT-CYB
mitochondrial electron transport, cytochrome c to oxygen (GO:0006123) 6.732MT-CO1, MT-CO3
single-organism developmental process (GO:0044767) 1.492MT-CO1, MT-CYB
response to stress (GO:0006950) 1.82MT-CO1, MT-CYB
aerobic respiration (GO:0009060) 6.42MT-CO1, MT-CO3
cellular respiration (GO:0045333) 5.92MT-CO1, MT-CO3
response to metal ion (GO:0010038) 3.912MT-CO1, MT-CYB
response to chemical (GO:0042221) 1.982MT-CO1, MT-CYB
response to inorganic substance (GO:0010035) 3.562MT-CO1, MT-CYB
response to transition metal nanoparticle (GO:1990267) 4.72MT-CO1, MT-CYB

NET-GE enrichment

Term New enriched termICP valueGenes
protein complex biogenesis (GO:0070271) NEW5.370.002MT-CO1, MT-CYB
hydrogen ion transmembrane transport (GO:1902600) -4.970.0MT-CO1, MT-CO3, MT-CYB
cytochrome complex assembly (GO:0017004) NEW6.40.001MT-CO1, MT-CO3
aerobic respiration (GO:0009060) -6.40.002MT-CO1, MT-CO3
generation of precursor metabolites and energy (GO:0006091) -4.070.028MT-CO1, MT-CO3, MT-CYB
proton transport (GO:0015992) -4.730.001MT-CO1, MT-CO3, MT-CYB
electron transport chain (GO:0022900) -5.090.0MT-CO1, MT-CO3, MT-CYB
inorganic cation transmembrane transport (GO:0098662) -3.550.037MT-CO1, MT-CO3, MT-CYB
respiratory electron transport chain (GO:0022904) -5.110.0MT-CO1, MT-CO3, MT-CYB
monovalent inorganic cation transport (GO:0015672) -3.740.022MT-CO1, MT-CO3, MT-CYB
mitochondrial respiratory chain complex assembly (GO:0033108) NEW5.310.002MT-CO1, MT-CYB
hydrogen transport (GO:0006818) -4.720.0MT-CO1, MT-CO3, MT-CYB
cation transport (GO:0006812) -3.110.008MT-CO1, MT-CO3, MT-CYB
ion transport (GO:0006811) -2.660.027MT-CO1, MT-CO3, MT-CYB
inorganic ion transmembrane transport (GO:0098660) -3.380.002MT-CO1, MT-CO3, MT-CYB
ion transmembrane transport (GO:0034220) -3.080.006MT-CO1, MT-CO3, MT-CYB
cellular respiration (GO:0045333) -5.90.007MT-CO1, MT-CO3
cellular protein complex assembly (GO:0043623) NEW3.90.014MT-CO1, MT-CO3, MT-CYB
transmembrane transport (GO:0055085) -2.720.023MT-CO1, MT-CO3, MT-CYB
oxidation-reduction process (GO:0055114) -2.910.016MT-CO1, MT-CO3, MT-CYB
energy derivation by oxidation of organic compounds (GO:0015980) -4.930.026MT-CO1, MT-CO3, MT-CYB
respiratory chain complex IV assembly (GO:0008535) NEW6.730.001MT-CO1, MT-CO3
cellular component biogenesis (GO:0044085) NEW4.460.032MT-CO1, MT-CYB
cation transmembrane transport (GO:0098655) -3.430.002MT-CO1, MT-CO3, MT-CYB
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
organelle inner membrane (GO:0019866) 3.563MT-CO1, MT-CO3, MT-CYB
intracellular organelle (GO:0043229) 0.513MT-CO1, MT-CO3, MT-CYB
mitochondrion (GO:0005739) 2.423MT-CO1, MT-CO3, MT-CYB
membrane-bounded organelle (GO:0043227) 0.473MT-CO1, MT-CO3, MT-CYB
organelle (GO:0043226) 0.43MT-CO1, MT-CO3, MT-CYB
intrinsic component of membrane (GO:0031224) 1.133MT-CO1, MT-CO3, MT-CYB
organelle membrane (GO:0031090) 1.973MT-CO1, MT-CO3, MT-CYB
mitochondrial inner membrane (GO:0005743) 3.653MT-CO1, MT-CO3, MT-CYB
integral component of membrane (GO:0016021) 1.143MT-CO1, MT-CO3, MT-CYB
membrane (GO:0016020) 0.683MT-CO1, MT-CO3, MT-CYB
respiratory chain complex (GO:0098803) 5.473MT-CO1, MT-CO3, MT-CYB
cytochrome complex (GO:0070069) 6.513MT-CO1, MT-CO3, MT-CYB
mitochondrial membrane (GO:0031966) 3.313MT-CO1, MT-CO3, MT-CYB
protein complex (GO:0043234) 1.513MT-CO1, MT-CO3, MT-CYB
macromolecular complex (GO:0032991) 1.353MT-CO1, MT-CO3, MT-CYB
intracellular membrane-bounded organelle (GO:0043231) 0.63MT-CO1, MT-CO3, MT-CYB
cell part (GO:0044464) 0.113MT-CO1, MT-CO3, MT-CYB
intracellular organelle part (GO:0044446) 0.813MT-CO1, MT-CO3, MT-CYB
membrane protein complex (GO:0098796) 2.843MT-CO1, MT-CO3, MT-CYB
cytoplasmic part (GO:0044444) 0.823MT-CO1, MT-CO3, MT-CYB
mitochondrial part (GO:0044429) 2.923MT-CO1, MT-CO3, MT-CYB
intracellular part (GO:0044424) 0.283MT-CO1, MT-CO3, MT-CYB
membrane part (GO:0044425) 0.953MT-CO1, MT-CO3, MT-CYB
organelle part (GO:0044422) 0.793MT-CO1, MT-CO3, MT-CYB
mitochondrial membrane part (GO:0044455) 4.542MT-CO1, MT-CYB
respiratory chain (GO:0070469) 5.512MT-CO1, MT-CYB
mitochondrial protein complex (GO:0098798) 4.782MT-CO1, MT-CYB
respiratory chain complex IV (GO:0045277) 7.092MT-CO1, MT-CO3
inner mitochondrial membrane protein complex (GO:0098800) 5.012MT-CO1, MT-CYB

NET-GE enrichment

Term New enriched termICP valueGenes
mitochondrial membrane part (GO:0044455) -4.540.007MT-CO1, MT-CO3, MT-CYB
respiratory chain complex IV (GO:0045277) -7.090.0MT-CO1, MT-CO3
organelle inner membrane (GO:0019866) -3.560.002MT-CO1, MT-CO3, MT-CYB
cytochrome complex (GO:0070069) -6.510.0MT-CO1, MT-CO3, MT-CYB
mitochondrial membrane (GO:0031966) -3.310.007MT-CO1, MT-CO3, MT-CYB
mitochondrial part (GO:0044429) -2.920.003MT-CO1, MT-CO3, MT-CYB
mitochondrial inner membrane (GO:0005743) -3.650.0MT-CO1, MT-CO3, MT-CYB