Disease table of COENZYME Q10 DEFICIENCY, PRIMARY OMIM ID: PS607426

Gene-disease associations table

GeneAssociated with COENZYME Q10 DEFICIENCY, PRIMARY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
ADCK3ClinVar, OMIM, HUMSAVARHGNC link1q42.131PS607426
PDSS1ClinVar, OMIM, HUMSAVARHGNC link10p12.11PS607426
PDSS2ClinVar, OMIM, HUMSAVARHGNC link6q211PS607426
COQ9ClinVar, OMIMHGNC link16q211PS607426
COQ4ClinVar, OMIM, HUMSAVARHGNC link9q34.111PS607426
COQ7ClinVar, OMIMHGNC link16p12.31PS607426
COQ6ClinVar, OMIM, HUMSAVARHGNC link14q24.31PS607426
COQ2ClinVar, OMIM, HUMSAVARHGNC link4q21.232PS607426, 146500

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
162COQ9, COQ7
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
ADCK3COQ9Yes0
ADCK3COQ4No1COQ5
ADCK3COQ6No1COQ3
PDSS2COQ6No1APP

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
PDSS1PDSS2Yesbinding0
PDSS1COQ6No-1PDSS2
PDSS2COQ9No-1COQ6
PDSS2COQ6Yesbinding0
COQ9COQ4Yesbinding1COQ5
COQ9COQ7Yesbinding0
COQ9COQ6Yesbinding0
COQ4COQ7No-1COQ9
COQ4COQ6No-1COQ9
COQ7COQ6No-1COQ9

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
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Ubiquinone and other terpenoid-quinone biosynthesishsa001309.453COQ2, COQ6, COQ7
Metabolic pathwayshsa011002.493COQ2, COQ6, COQ7
Terpenoid backbone biosynthesishsa009008.312PDSS2, PDSS1

NET-GE enrichment

Term New enriched termICP valueGenes
Global and overview mapsNEW2.470.029COQ6, COQ2, COQ7, COQ9, COQ4, PDSS2
MetabolismNEW2.060.009COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
Terpenoid backbone biosynthesis (hsa00900) -8.310.001PDSS2, PDSS1
Metabolic pathways (hsa01100) -2.490.028COQ6, COQ2, COQ7, COQ9, COQ4, PDSS2
Metabolism of cofactors and vitaminsNEW5.160.002COQ6, COQ2, COQ7, COQ4
Metabolism of terpenoids and polyketidesNEW8.310.001PDSS2, PDSS1
Ubiquinone and other terpenoid-quinone biosynthesis (hsa00130) -9.450.0COQ6, COQ2, COQ7, COQ4
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Metabolism of lipids and lipoproteinsR-HSA-5568333.795PDSS2, COQ2, PDSS1, COQ6, COQ7
MetabolismR-HSA-14307282.345PDSS2, COQ2, PDSS1, COQ6, COQ7
Ubiquinol biosynthesisR-HSA-214278910.185PDSS2, COQ2, PDSS1, COQ6, COQ7

NET-GE enrichment

Term New enriched termICP valueGenes
Metabolism of lipids and lipoproteins (R-HSA-556833) -3.790.0COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
Metabolism (R-HSA-1430728) -2.340.002COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
Ubiquinol biosynthesis (R-HSA-2142789) -10.180.0COQ6, COQ2, COQ7, PDSS1, COQ4, PDSS2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.055PDSS2, COQ2, PDSS1, COQ6, COQ7
binding (GO:0005488) 0.185PDSS2, PDSS1, COQ6, COQ7, COQ9
protein binding (GO:0005515) 0.464PDSS2, PDSS1, COQ9, COQ7
transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765) 5.583PDSS2, PDSS1, COQ2
transferase activity (GO:0016740) 1.953PDSS2, PDSS1, COQ2
protein dimerization activity (GO:0046983) 2.723PDSS2, PDSS1, COQ9
cation binding (GO:0043169) 1.42PDSS1, COQ7
monooxygenase activity (GO:0004497) 5.12COQ6, COQ7
metal ion binding (GO:0046872) 1.412PDSS1, COQ7
trans-hexaprenyltranstransferase activity (GO:0000010) 9.052PDSS2, PDSS1
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709) 6.072COQ6, COQ7
protein heterodimerization activity (GO:0046982) 3.642PDSS2, PDSS1
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705) 4.652COQ6, COQ7
ion binding (GO:0043167) 1.362PDSS1, COQ7
trans-octaprenyltranstransferase activity (GO:0050347) 9.052PDSS2, PDSS1
oxidoreductase activity (GO:0016491) 3.122COQ6, COQ7

NET-GE enrichment

Term New enriched termICP valueGenes
trans-octaprenyltranstransferase activity (GO:0050347) -9.050.0PDSS2, PDSS1
transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765) -5.580.0PDSS2, PDSS1, COQ2, COQ6
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
coenzyme metabolic process (GO:0006732) 4.147COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
oxidoreduction coenzyme metabolic process (GO:0006733) 5.037COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
cellular biosynthetic process (GO:0044249) 1.377COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
coenzyme biosynthetic process (GO:0009108) 4.897COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
small molecule metabolic process (GO:0044281) 2.387COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
small molecule biosynthetic process (GO:0044283) 3.797COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
single-organism process (GO:0044699) 0.487COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
organic substance biosynthetic process (GO:1901576) 1.347COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
single-organism metabolic process (GO:0044710) 1.637COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
single-organism biosynthetic process (GO:0044711) 2.87COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
quinone biosynthetic process (GO:1901663) 7.337COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
cofactor biosynthetic process (GO:0051188) 4.627COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
quinone metabolic process (GO:1901661) 6.47COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
organic substance metabolic process (GO:0071704) 0.637COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
ubiquinone biosynthetic process (GO:0006744) 7.337COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
ubiquinone metabolic process (GO:0006743) 7.247COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
cellular process (GO:0009987) 0.267COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
biosynthetic process (GO:0009058) 1.327COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
cofactor metabolic process (GO:0051186) 3.917COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
single-organism cellular process (GO:0044763) 0.657COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
metabolic process (GO:0008152) 0.587COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
ketone biosynthetic process (GO:0042181) 6.557COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
cellular ketone metabolic process (GO:0042180) 5.547COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
cellular metabolic process (GO:0044237) 0.697COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
primary metabolic process (GO:0044238) 0.693PDSS2, PDSS1, COQ2
lipid metabolic process (GO:0006629) 2.683PDSS2, PDSS1, COQ2
isoprenoid metabolic process (GO:0006720) 4.893PDSS2, PDSS1, COQ2
isoprenoid biosynthetic process (GO:0008299) 6.513PDSS2, PDSS1, COQ2
cellular lipid metabolic process (GO:0044255) 2.923PDSS2, PDSS1, COQ2
oxidation-reduction process (GO:0055114) 2.913COQ6, COQ7, COQ9
lipid biosynthetic process (GO:0008610) 3.493PDSS2, PDSS1, COQ2
protein oligomerization (GO:0051259) 3.712PDSS2, PDSS1
cellular component assembly (GO:0022607) 2.142PDSS2, PDSS1
protein complex subunit organization (GO:0071822) 2.62PDSS2, PDSS1
macromolecular complex subunit organization (GO:0043933) 2.142PDSS2, PDSS1
protein complex assembly (GO:0006461) 2.782PDSS2, PDSS1
protein heterooligomerization (GO:0051291) 5.222PDSS2, PDSS1
protein heterotetramerization (GO:0051290) 6.962PDSS2, PDSS1
cellular component organization (GO:0016043) 1.242PDSS2, PDSS1
macromolecular complex assembly (GO:0065003) 2.552PDSS2, PDSS1
biological regulation (GO:0065007) 0.392PDSS2, COQ7
protein tetramerization (GO:0051262) 5.012PDSS2, PDSS1
cellular component organization or biogenesis (GO:0071840) 1.222PDSS2, PDSS1

NET-GE enrichment

Term New enriched termICP valueGenes
coenzyme metabolic process (GO:0006732) -4.140.0COQ2, COQ6, COQ9, PDSS2, PDSS1, COQ7, COQ4, ADCK3
oxidoreduction coenzyme metabolic process (GO:0006733) -5.030.0COQ2, COQ6, COQ9, ADCK3, PDSS1, COQ7, COQ4, PDSS2
cellular biosynthetic process (GO:0044249) -1.370.001COQ2, COQ6, COQ9, ADCK3, PDSS1, COQ7, COQ4, PDSS2
coenzyme biosynthetic process (GO:0009108) -4.890.0COQ2, COQ6, COQ9, PDSS2, PDSS1, COQ7, COQ4, ADCK3
response to corticosterone (GO:0051412) NEW6.550.041PDSS2, COQ6
small molecule biosynthetic process (GO:0044283) -3.790.0COQ2, COQ6, COQ9, ADCK3, PDSS1, COQ7, COQ4, PDSS2
organic substance biosynthetic process (GO:1901576) -1.340.001COQ2, COQ6, COQ9, ADCK3, PDSS1, COQ7, COQ4, PDSS2
single-organism metabolic process (GO:0044710) -1.630.002COQ2, COQ6, COQ9, PDSS2, PDSS1, COQ7, COQ4, ADCK3
cofactor metabolic process (GO:0051186) -3.910.0COQ2, COQ6, COQ9, PDSS2, PDSS1, COQ7, COQ4, ADCK3
quinone biosynthetic process (GO:1901663) -7.330.0COQ2, COQ6, COQ9, PDSS2, PDSS1, COQ7, COQ4, ADCK3
cofactor biosynthetic process (GO:0051188) -4.620.0COQ2, COQ6, COQ9, PDSS2, PDSS1, COQ7, COQ4, ADCK3
quinone metabolic process (GO:1901661) -6.40.0COQ2, COQ6, COQ9, ADCK3, PDSS1, COQ7, COQ4, PDSS2
electron transport chain (GO:0022900) NEW5.090.006COQ6, COQ7, COQ9
alditol metabolic process (GO:0019400) NEW6.680.016COQ2, COQ4
respiratory electron transport chain (GO:0022904) NEW5.110.006COQ6, COQ7, COQ9
glycerol metabolic process (GO:0006071) NEW6.840.014COQ2, COQ4
ubiquinone biosynthetic process (GO:0006744) -7.330.0COQ2, COQ6, COQ9, PDSS2, PDSS1, COQ7, COQ4, ADCK3
ubiquinone metabolic process (GO:0006743) -7.240.0COQ2, COQ6, COQ9, PDSS2, PDSS1, COQ7, COQ4, ADCK3
isoprenoid metabolic process (GO:0006720) -4.890.001PDSS2, PDSS1, COQ2
protein heterotetramerization (GO:0051290) -6.960.001PDSS2, PDSS1
biosynthetic process (GO:0009058) -1.320.001COQ2, COQ6, COQ9, ADCK3, PDSS1, COQ7, COQ4, PDSS2
single-organism biosynthetic process (GO:0044711) -2.80.0COQ2, COQ6, COQ9, ADCK3, PDSS1, COQ7, COQ4, PDSS2
ketone biosynthetic process (GO:0042181) -6.550.0COQ2, COQ6, COQ9, ADCK3, PDSS1, COQ7, COQ4, PDSS2
cellular ketone metabolic process (GO:0042180) -5.540.0COQ2, COQ6, COQ9, PDSS2, PDSS1, COQ7, COQ4, ADCK3
isoprenoid biosynthetic process (GO:0008299) -6.510.0PDSS2, PDSS1, COQ2
small molecule metabolic process (GO:0044281) -2.380.0COQ2, COQ6, COQ9, PDSS2, PDSS1, COQ7, COQ4, ADCK3
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.67COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
cell part (GO:0044464) 0.117COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
cytoplasmic part (GO:0044444) 0.827COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
mitochondrion (GO:0005739) 2.427COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
intracellular organelle part (GO:0044446) 0.817COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
intracellular organelle (GO:0043229) 0.517COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
mitochondrial part (GO:0044429) 2.927COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
intracellular part (GO:0044424) 0.287COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
membrane-bounded organelle (GO:0043227) 0.477COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
organelle (GO:0043226) 0.47COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
organelle part (GO:0044422) 0.797COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
mitochondrial inner membrane (GO:0005743) 3.655COQ6, COQ2, COQ7, COQ4, COQ9
membrane (GO:0016020) 0.685COQ6, COQ2, COQ7, COQ4, COQ9
organelle inner membrane (GO:0019866) 3.565COQ6, COQ2, COQ7, COQ4, COQ9
organelle membrane (GO:0031090) 1.975COQ6, COQ2, COQ7, COQ4, COQ9
mitochondrial membrane (GO:0031966) 3.315COQ6, COQ2, COQ7, COQ4, COQ9
protein complex (GO:0043234) 1.512PDSS2, PDSS1
macromolecular complex (GO:0032991) 1.352PDSS2, PDSS1
catalytic complex (GO:1902494) 2.92PDSS2, PDSS1
organelle lumen (GO:0043233) 3.052PDSS2, PDSS1
membrane-enclosed lumen (GO:0031974) 3.052PDSS2, PDSS1
mitochondrial membrane part (GO:0044455) 4.542COQ2, COQ7
intracellular organelle lumen (GO:0070013) 3.052PDSS2, PDSS1
transferase complex (GO:1990234) 3.322PDSS2, PDSS1
mitochondrial matrix (GO:0005759) 4.032PDSS2, PDSS1
membrane part (GO:0044425) 0.952COQ2, COQ7

NET-GE enrichment

Term New enriched termICP valueGenes
organelle inner membrane (GO:0019866) -3.560.0COQ6, COQ2, COQ7, COQ9, COQ4, PDSS2
mitochondrion (GO:0005739) -2.420.023COQ6, COQ9, ADCK3, COQ7, COQ4, PDSS2
mitochondrial membrane (GO:0031966) -3.310.0COQ6, COQ2, COQ7, COQ9, COQ4, PDSS2
mitochondrial inner membrane (GO:0005743) -3.650.0COQ6, COQ2, COQ7, COQ9, COQ4, PDSS2
cytoplasmic part (GO:0044444) -0.820.016COQ2, COQ6, COQ9, ADCK3, PDSS1, COQ7, COQ4, PDSS2
mitochondrial part (GO:0044429) -2.920.0COQ2, COQ6, COQ7, PDSS1, COQ9, COQ4, PDSS2
mitochondrial matrix (GO:0005759) -4.030.003PDSS2, PDSS1, COQ6, COQ4