Disease table of PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MTDNA DELETIONS OMIM ID: PS157640

Gene-disease associations table

GeneAssociated with PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MTDNA DELETIONS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
DNA2ClinVar, OMIM, HUMSAVARHGNC link10q21.32PS157640, PS210600
RNASEH1OMIM, HUMSAVARHGNC link2p25.31PS157640
C10orf2ClinVar, OMIM, HUMSAVARHGNC link10q24.314PS157640, 607459, PS603041, PS233400
POLG2ClinVar, OMIM, HUMSAVARHGNC link17q23.31PS157640
POLGClinVar, OMIM, HUMSAVARHGNC link15q26.14PS157640, 607459, PS603041, 256000
RRM2BClinVar, OMIMHGNC link8q22.32PS157640, PS603041
SLC25A4ClinVar, OMIM, HUMSAVARHGNC link4q35.12PS157640, PS603041

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
10q22C10orf2, DNA2
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
10q2C10orf2, DNA2
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
102C10orf2, DNA2
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
RRM2BYES4POU2F1, NFKB1, CREB1, TP530
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
DNA2RNASEH1No3RPA3, RPA2, RPA1
DNA2SLC25A4No2NXF1, MOV10
C10orf2SLC25A4No1ICT1
POLG2POLGYes0
RRM2BSLC25A4No1MCM2

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

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
DNA2RNASEH1No-1RPA1
DNA2POLGNo-1POLD1
DNA2RRM2BNo-1UBC
DNA2SLC25A4No-1UBC
C10orf2POLG2No-1GABPA
POLG2POLGYesbinding0
RRM2BSLC25A4No-1UBC

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

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
POLG2POLGYes2POLG2, POLG

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

Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
C10orf2POLGyes, complexIn vitro, C10orf2 forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Metabolic pathwayshsa011002.493RRM2B, POLG2, POLG
DNA replicationhsa030307.482DNA2, RNASEH1

NET-GE enrichment

Term New enriched termICP valueGenes
DNA replication (hsa03030) -7.480.013DNA2, RNASEH1
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Mitochondrial biogenesisR-HSA-15922307.342C10orf2, POLG2
Organelle biogenesis and maintenanceR-HSA-18522414.632C10orf2, POLG2
MetabolismR-HSA-14307282.342RRM2B, SLC25A4
Transcriptional activation of mitochondrial biogenesisR-HSA-21512017.622C10orf2, POLG2

NET-GE enrichment

Term New enriched termICP valueGenes
Mitochondrial biogenesis (R-HSA-1592230) -7.340.013C10orf2, POLG2
Transcriptional activation of mitochondrial biogenesis (R-HSA-2151201) -7.620.009C10orf2, POLG2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.187SLC25A4, POLG2, POLG, C10orf2, RNASEH1, DNA2, RRM2B
catalytic activity (GO:0003824) 1.056POLG2, POLG, C10orf2, RNASEH1, RRM2B, DNA2
nucleic acid binding (GO:0003676) 1.445POLG2, C10orf2, RNASEH1, DNA2, POLG
organic cyclic compound binding (GO:0097159) 1.055POLG2, C10orf2, RNASEH1, DNA2, POLG
heterocyclic compound binding (GO:1901363) 1.065POLG2, C10orf2, RNASEH1, DNA2, POLG
protein binding (GO:0005515) 0.465SLC25A4, RRM2B, POLG2, DNA2, POLG
hydrolase activity (GO:0016787) 1.94C10orf2, RNASEH1, DNA2, POLG
ion binding (GO:0043167) 1.364RRM2B, RNASEH1, C10orf2, DNA2
DNA binding (GO:0003677) 1.924DNA2, POLG2, C10orf2, POLG
nuclease activity (GO:0004518) 4.333DNA2, RNASEH1, POLG
cation binding (GO:0043169) 1.43DNA2, RNASEH1, RRM2B
metal ion binding (GO:0046872) 1.413DNA2, RNASEH1, RRM2B
hydrolase activity, acting on ester bonds (GO:0016788) 3.13DNA2, RNASEH1, POLG
purine ribonucleoside triphosphate binding (GO:0035639) 2.222DNA2, C10orf2
DNA polymerase activity (GO:0034061) 5.932POLG2, POLG
DNA helicase activity (GO:0003678) 5.732DNA2, C10orf2
nucleoside phosphate binding (GO:1901265) 1.962DNA2, C10orf2
nucleoside binding (GO:0001882) 2.212DNA2, C10orf2
nucleotide binding (GO:0000166) 1.962DNA2, C10orf2
DNA-directed DNA polymerase activity (GO:0003887) 6.412POLG2, POLG
transferase activity (GO:0016740) 1.952POLG2, POLG
purine nucleoside binding (GO:0001883) 2.222DNA2, C10orf2
ribonucleoside binding (GO:0032549) 2.222DNA2, C10orf2
purine nucleotide binding (GO:0017076) 2.192DNA2, C10orf2
ATP binding (GO:0005524) 2.432DNA2, C10orf2
nucleotidyltransferase activity (GO:0016779) 4.812POLG2, POLG
helicase activity (GO:0004386) 4.692DNA2, C10orf2
small molecule binding (GO:0036094) 1.892DNA2, C10orf2
endonuclease activity, active with either ribo- or deoxyribonucleic acids and producing 5'-phosphomonoesters (GO:0016893) 5.832DNA2, RNASEH1
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818) 3.032DNA2, C10orf2
adenyl nucleotide binding (GO:0030554) 2.42DNA2, C10orf2
carbohydrate derivative binding (GO:0097367) 2.032DNA2, C10orf2
transferase activity, transferring phosphorus-containing groups (GO:0016772) 2.772POLG2, POLG
nucleoside-triphosphatase activity (GO:0017111) 3.092DNA2, C10orf2
hydrolase activity, acting on acid anhydrides (GO:0016817) 3.032DNA2, C10orf2
pyrophosphatase activity (GO:0016462) 3.042DNA2, C10orf2
adenyl ribonucleotide binding (GO:0032559) 2.412DNA2, C10orf2
endonuclease activity (GO:0004519) 4.782DNA2, RNASEH1
purine ribonucleotide binding (GO:0032555) 2.22DNA2, C10orf2
5'-3' DNA helicase activity (GO:0043139) 7.662DNA2, C10orf2
purine ribonucleoside binding (GO:0032550) 2.222DNA2, C10orf2
ribonucleotide binding (GO:0032553) 2.192DNA2, C10orf2

NET-GE enrichment

Term New enriched termICP valueGenes
nuclease activity (GO:0004518) -4.330.001C10orf2, RNASEH1, DNA2, POLG
endonuclease activity (GO:0004519) -4.780.009DNA2, RNASEH1, C10orf2
DNA polymerase activity (GO:0034061) -5.930.014POLG2, POLG
DNA-directed DNA polymerase activity (GO:0003887) -6.410.007POLG2, POLG
endonuclease activity, active with either ribo- or deoxyribonucleic acids and producing 5'-phosphomonoesters (GO:0016893) -5.830.011DNA2, RNASEH1
hydrolase activity, acting on ester bonds (GO:0016788) -3.10.03SLC25A4, C10orf2, RNASEH1, DNA2, POLG
protease binding (GO:0002020) NEW5.080.031C10orf2, POLG
DNA helicase activity (GO:0003678) -5.730.011DNA2, C10orf2
5'-3' DNA helicase activity (GO:0043139) -7.660.001DNA2, C10orf2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
primary metabolic process (GO:0044238) 0.697SLC25A4, POLG2, POLG, C10orf2, RNASEH1, DNA2, RRM2B
cellular macromolecule metabolic process (GO:0044260) 0.937SLC25A4, POLG2, POLG, C10orf2, RNASEH1, DNA2, RRM2B
cellular process (GO:0009987) 0.267SLC25A4, POLG2, POLG, C10orf2, RNASEH1, DNA2, RRM2B
cellular metabolic process (GO:0044237) 0.697SLC25A4, POLG2, POLG, C10orf2, RNASEH1, DNA2, RRM2B
macromolecule metabolic process (GO:0043170) 0.837SLC25A4, POLG2, POLG, C10orf2, RNASEH1, DNA2, RRM2B
organic substance metabolic process (GO:0071704) 0.637SLC25A4, POLG2, POLG, C10orf2, RNASEH1, DNA2, RRM2B
cellular nitrogen compound metabolic process (GO:0034641) 1.227SLC25A4, POLG2, POLG, C10orf2, RNASEH1, DNA2, RRM2B
nitrogen compound metabolic process (GO:0006807) 1.137SLC25A4, POLG2, POLG, C10orf2, RNASEH1, DNA2, RRM2B
metabolic process (GO:0008152) 0.587SLC25A4, POLG2, POLG, C10orf2, RNASEH1, DNA2, RRM2B
organic substance biosynthetic process (GO:1901576) 1.346SLC25A4, POLG2, POLG, C10orf2, DNA2, RRM2B
nucleobase-containing compound metabolic process (GO:0006139) 1.356POLG2, POLG, C10orf2, RNASEH1, DNA2, RRM2B
cellular aromatic compound metabolic process (GO:0006725) 1.36POLG2, POLG, C10orf2, RNASEH1, RRM2B, DNA2
nucleic acid metabolic process (GO:0090304) 1.466POLG2, POLG, C10orf2, RNASEH1, RRM2B, DNA2
cellular biosynthetic process (GO:0044249) 1.376SLC25A4, POLG2, POLG, C10orf2, DNA2, RRM2B
biosynthetic process (GO:0009058) 1.326SLC25A4, POLG2, POLG, C10orf2, DNA2, RRM2B
macromolecule biosynthetic process (GO:0009059) 1.616SLC25A4, POLG2, POLG, C10orf2, DNA2, RRM2B
cellular macromolecule biosynthetic process (GO:0034645) 1.666SLC25A4, POLG2, POLG, C10orf2, DNA2, RRM2B
DNA metabolic process (GO:0006259) 3.096POLG2, POLG, C10orf2, RNASEH1, RRM2B, DNA2
organic cyclic compound metabolic process (GO:1901360) 1.266POLG2, POLG, C10orf2, RNASEH1, RRM2B, DNA2
heterocycle metabolic process (GO:0046483) 1.316POLG2, POLG, C10orf2, RNASEH1, DNA2, RRM2B
cellular nitrogen compound biosynthetic process (GO:0044271) 1.595SLC25A4, RRM2B, POLG2, DNA2, POLG
DNA replication (GO:0006260) 4.515DNA2, C10orf2, POLG2, RRM2B, POLG
single-organism process (GO:0044699) 0.485SLC25A4, DNA2, POLG2, RRM2B, POLG
organelle organization (GO:0006996) 2.024SLC25A4, DNA2, POLG2, C10orf2
mitochondrial DNA metabolic process (GO:0032042) 7.094DNA2, POLG2, RRM2B, POLG
cellular response to stimulus (GO:0051716) 1.974RRM2B, POLG2, DNA2, POLG
response to stimulus (GO:0050896) 1.224RRM2B, POLG2, DNA2, POLG
single-organism cellular process (GO:0044763) 0.654DNA2, POLG2, RRM2B, POLG
cellular component organization (GO:0016043) 1.244SLC25A4, C10orf2, POLG2, DNA2
response to stress (GO:0006950) 1.84RRM2B, POLG2, DNA2, POLG
biological regulation (GO:0065007) 0.394DNA2, SLC25A4, RRM2B, POLG
DNA-dependent DNA replication (GO:0006261) 6.294DNA2, POLG2, RRM2B, POLG
nucleobase-containing compound biosynthetic process (GO:0034654) 1.724DNA2, POLG2, RRM2B, POLG
aromatic compound biosynthetic process (GO:0019438) 1.74DNA2, POLG2, RRM2B, POLG
organic cyclic compound biosynthetic process (GO:1901362) 1.664RRM2B, POLG2, DNA2, POLG
cellular component organization or biogenesis (GO:0071840) 1.224SLC25A4, DNA2, POLG2, C10orf2
heterocycle biosynthetic process (GO:0018130) 1.74DNA2, POLG2, RRM2B, POLG
RNA metabolic process (GO:0016070) 1.593RNASEH1, DNA2, POLG2
developmental process (GO:0032502) 1.363RRM2B, POLG2, POLG
single-organism metabolic process (GO:0044710) 1.633RRM2B, POLG2, DNA2
regulation of cell communication (GO:0010646) 1.733DNA2, SLC25A4, RRM2B
DNA repair (GO:0006281) 3.593DNA2, POLG2, RRM2B
nucleic acid phosphodiester bond hydrolysis (GO:0090305) 4.123DNA2, RNASEH1, POLG
regulation of cellular process (GO:0050794) 0.53DNA2, SLC25A4, RRM2B
mitochondrial DNA replication (GO:0006264) 7.533DNA2, RRM2B, POLG
cellular response to DNA damage stimulus (GO:0006974) 3.173DNA2, POLG2, RRM2B
single-organism developmental process (GO:0044767) 1.493RRM2B, POLG2, POLG
cellular response to stress (GO:0033554) 2.513DNA2, POLG2, RRM2B
regulation of signaling (GO:0023051) 1.723DNA2, SLC25A4, RRM2B
regulation of biological quality (GO:0065008) 1.683DNA2, SLC25A4, POLG
regulation of biological process (GO:0050789) 0.453DNA2, SLC25A4, RRM2B
DNA biosynthetic process (GO:0071897) 4.893DNA2, POLG2, POLG
DNA conformation change (GO:0071103) 4.92DNA2, C10orf2
regulation of response to stimulus (GO:0048583) 1.542DNA2, RRM2B
cellular catabolic process (GO:0044248) 2.622DNA2, RNASEH1
small molecule metabolic process (GO:0044281) 2.382RRM2B, POLG2
response to chemical (GO:0042221) 1.982RRM2B, POLG
generation of precursor metabolites and energy (GO:0006091) 4.072SLC25A4, POLG2
regulation of cell death (GO:0010941) 2.432RRM2B, SLC25A4
mitochondrion organization (GO:0007005) 3.692SLC25A4, POLG2
organic cyclic compound catabolic process (GO:1901361) 3.732DNA2, RNASEH1
organic substance catabolic process (GO:1901575) 2.452DNA2, RNASEH1
cellular macromolecule catabolic process (GO:0044265) 3.192DNA2, RNASEH1
regulation of signal transduction (GO:0009966) 1.842DNA2, RRM2B
macromolecule catabolic process (GO:0009057) 3.02DNA2, RNASEH1
regulation of programmed cell death (GO:0043067) 2.492RRM2B, SLC25A4
regulation of signal transduction by p53 class mediator (GO:1901796) 4.632DNA2, RRM2B
negative regulation of programmed cell death (GO:0043069) 3.022RRM2B, SLC25A4
cellular homeostasis (GO:0019725) 3.232DNA2, POLG
DNA geometric change (GO:0032392) 5.312DNA2, C10orf2
multicellular organismal process (GO:0032501) 1.452RRM2B, POLG2
negative regulation of cell death (GO:0060548) 2.952RRM2B, SLC25A4
DNA duplex unwinding (GO:0032508) 5.372DNA2, C10orf2
heterocycle catabolic process (GO:0046700) 3.822DNA2, RNASEH1
negative regulation of biological process (GO:0048519) 1.332RRM2B, SLC25A4
nucleobase-containing compound catabolic process (GO:0034655) 3.92DNA2, RNASEH1
regulation of intracellular signal transduction (GO:1902531) 2.312DNA2, RRM2B
catabolic process (GO:0009056) 2.382DNA2, RNASEH1
response to organic substance (GO:0010033) 2.22RRM2B, POLG
oxidation-reduction process (GO:0055114) 2.912RRM2B, POLG2
chromosome organization (GO:0051276) 3.792DNA2, C10orf2
homeostatic process (GO:0042592) 2.612DNA2, POLG
organonitrogen compound metabolic process (GO:1901564) 2.322SLC25A4, POLG2
cellular nitrogen compound catabolic process (GO:0044270) 3.82DNA2, RNASEH1
anatomical structure development (GO:0048856) 1.582RRM2B, POLG2
RNA catabolic process (GO:0006401) 4.32DNA2, RNASEH1
single-organism organelle organization (GO:1902589) 2.682DNA2, POLG2
DNA replication, removal of RNA primer (GO:0043137) 8.342DNA2, RNASEH1
aromatic compound catabolic process (GO:0019439) 3.792DNA2, RNASEH1
negative regulation of cellular process (GO:0048523) 1.412RRM2B, SLC25A4

NET-GE enrichment

Term New enriched termICP valueGenes
cellular response to DNA damage stimulus (GO:0006974) -3.170.025POLG2, RRM2B, RNASEH1, DNA2, POLG
mitochondrial DNA metabolic process (GO:0032042) -7.090.0DNA2, RRM2B, RNASEH1, C10orf2, POLG
DNA repair (GO:0006281) -3.590.047DNA2, POLG2, RRM2B, POLG
mitochondrial DNA replication (GO:0006264) -7.530.0DNA2, RRM2B, RNASEH1, C10orf2, POLG
nucleic acid phosphodiester bond hydrolysis (GO:0090305) -4.120.013DNA2, RNASEH1, C10orf2, POLG
macromolecule biosynthetic process (GO:0009059) -1.610.042POLG2, POLG, C10orf2, RNASEH1, RRM2B, DNA2
DNA replication (GO:0006260) -4.510.0POLG2, POLG, C10orf2, RNASEH1, RRM2B, DNA2
DNA-dependent DNA replication (GO:0006261) -6.290.0POLG2, POLG, C10orf2, RNASEH1, DNA2, RRM2B
cellular macromolecule biosynthetic process (GO:0034645) -1.660.03POLG2, POLG, C10orf2, RNASEH1, RRM2B, DNA2
DNA metabolic process (GO:0006259) -3.090.002POLG2, POLG, C10orf2, RNASEH1, DNA2, RRM2B
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular part (GO:0044424) 0.286SLC25A4, POLG2, POLG, RNASEH1, DNA2, RRM2B
cell part (GO:0044464) 0.116SLC25A4, POLG2, POLG, RNASEH1, DNA2, RRM2B
intracellular membrane-bounded organelle (GO:0043231) 0.65SLC25A4, DNA2, POLG2, RRM2B, POLG
intracellular organelle (GO:0043229) 0.515SLC25A4, RRM2B, POLG2, DNA2, POLG
mitochondrion (GO:0005739) 2.425SLC25A4, DNA2, POLG2, RRM2B, POLG
intracellular organelle part (GO:0044446) 0.815SLC25A4, RRM2B, POLG2, DNA2, POLG
cytoplasmic part (GO:0044444) 0.825SLC25A4, DNA2, POLG2, RRM2B, POLG
membrane-bounded organelle (GO:0043227) 0.475POLG2, DNA2, SLC25A4, RRM2B, POLG
organelle (GO:0043226) 0.45POLG2, DNA2, SLC25A4, RRM2B, POLG
organelle part (GO:0044422) 0.795SLC25A4, RRM2B, POLG2, DNA2, POLG
mitochondrial part (GO:0044429) 2.924SLC25A4, DNA2, POLG2, POLG
protein complex (GO:0043234) 1.513DNA2, RRM2B, POLG
extracellular vesicle (GO:1903561) 1.893RRM2B, POLG2, POLG
macromolecular complex (GO:0032991) 1.353DNA2, RRM2B, POLG
vesicle (GO:0031982) 1.643RRM2B, POLG2, POLG
intracellular non-membrane-bounded organelle (GO:0043232) 1.763DNA2, POLG2, POLG
extracellular region part (GO:0044421) 1.573RRM2B, POLG2, POLG
extracellular exosome (GO:0070062) 1.893RRM2B, POLG2, POLG
nucleus (GO:0005634) 1.073DNA2, SLC25A4, RRM2B
membrane-bounded vesicle (GO:0031988) 1.713RRM2B, POLG2, POLG
non-membrane-bounded organelle (GO:0043228) 1.763DNA2, POLG2, POLG
extracellular organelle (GO:0043230) 1.893RRM2B, POLG2, POLG
mitochondrial nucleoid (GO:0042645) 6.023DNA2, POLG2, POLG
nucleoid (GO:0009295) 5.973DNA2, POLG2, POLG
catalytic complex (GO:1902494) 2.93DNA2, RRM2B, POLG
cytoplasm (GO:0005737) 1.012RRM2B, RNASEH1
transferase complex, transferring phosphorus-containing groups (GO:0061695) 4.612DNA2, POLG
integral component of membrane (GO:0016021) 1.142RRM2B, SLC25A4
membrane (GO:0016020) 0.682RRM2B, SLC25A4
nucleoplasm (GO:0005654) 1.892DNA2, RRM2B
nuclear part (GO:0044428) 1.552DNA2, RRM2B
transferase complex (GO:1990234) 3.322DNA2, POLG
membrane part (GO:0044425) 0.952RRM2B, SLC25A4
gamma DNA polymerase complex (GO:0005760) 9.112DNA2, POLG
DNA polymerase complex (GO:0042575) 7.162DNA2, POLG
intrinsic component of membrane (GO:0031224) 1.132RRM2B, SLC25A4
mitochondrial protein complex (GO:0098798) 4.782DNA2, POLG

NET-GE enrichment

Term New enriched termICP valueGenes
mitochondrion (GO:0005739) -2.420.025SLC25A4, POLG2, RNASEH1, POLG
mitochondrial part (GO:0044429) -2.920.0SLC25A4, DNA2, POLG2, C10orf2, POLG
mitochondrial nucleoid (GO:0042645) -6.020.0C10orf2, POLG2, DNA2, POLG
chromosome (GO:0005694) NEW3.780.016DNA2, POLG2, POLG
nucleoid (GO:0009295) -5.970.0DNA2, POLG2, C10orf2, POLG