RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: coenzyme Q10 deficiency disease
Accession: DOID:0050730
browse the term
Definition: A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. (DO)
Synonyms: exact_synonym: CoQ Deficiency; coenzyme Q deficiency; primary CoQ10 deficiency; primary coenzyme Q10 deficiency; ubiquinone deficiency
narrow_synonym: COENZYME Q10 DEFICIENCY, OCULOMOTOR APRAXIA TYPE; COENZYME Q10 DEFICIENCY, SPINOCEREBELLAR ATAXIA TYPE
primary_id: MESH:C564403
xref: GARD:10423 ; OMIM:PS607426
For additional species annotation, visit the
Alliance of Genome Resources .
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Aptx
aprataxin
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Oculomotor Apraxia Type
ClinVar
PMID:24033266 PMID:26285866 PMID:26467025 PMID:28492532
NCBI chr 5:56,987,714...57,009,481
Ensembl chr 5:56,987,909...57,008,859
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Coq2
coenzyme Q2, polyprenyltransferase
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary
ClinVar
PMID:16116126 PMID:16400613 PMID:17332895 PMID:17374725 PMID:17420317 PMID:17855635 PMID:20495179 PMID:23758206 PMID:24988567 PMID:25525159 PMID:25741868 PMID:27493029 PMID:28492532
NCBI chr14:10,581,102...10,601,093
Ensembl chr14:10,581,136...10,600,566
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Coq8a
coenzyme Q8A
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type
ClinVar
PMID:26467025 PMID:28492532
NCBI chr13:98,451,629...98,480,438
Ensembl chr13:98,451,637...98,480,419
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Coq9
coenzyme Q9
ISS ISO
OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654 ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary
MouseDO ClinVar
NCBI chr19:10,583,855...10,596,848
Ensembl chr19:10,583,857...10,596,851
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Pdss1
decaprenyl diphosphate synthase subunit 1
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary
ClinVar
NCBI chr17:90,033,432...90,072,506
Ensembl chr17:90,033,539...90,071,408
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Pdss2
decaprenyl diphosphate synthase subunit 2
ISS ISO
OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654 ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary
MouseDO ClinVar
NCBI chr20:47,966,513...48,192,747
Ensembl chr20:47,966,583...48,192,743
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Aptx
aprataxin
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary 1
ClinVar
NCBI chr 5:56,987,714...57,009,481
Ensembl chr 5:56,987,909...57,008,859
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Coq2
coenzyme Q2, polyprenyltransferase
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary 1 ClinVar Annotator: match by OMIM:607426
OMIM ClinVar
PMID:16116126 PMID:16400613 PMID:17332895 PMID:17374725 PMID:17855635 PMID:20495179 PMID:24033266 PMID:25373618 PMID:25525159 PMID:25741868 PMID:27493029
NCBI chr14:10,581,102...10,601,093
Ensembl chr14:10,581,136...10,600,566
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Coq8a
coenzyme Q8A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary 1
CTD ClinVar
PMID:18319072 PMID:24033266
NCBI chr13:98,451,629...98,480,438
Ensembl chr13:98,451,637...98,480,419
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Abi1
abl-interactor 1
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 2
ClinVar
NCBI chr17:89,951,662...90,033,334
Ensembl chr17:89,951,752...90,033,328
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Pdss1
decaprenyl diphosphate synthase subunit 1
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 2 ClinVar Annotator: match by OMIM:614651
OMIM ClinVar
PMID:17332895 PMID:22494076 PMID:25264263 PMID:28492532
NCBI chr17:90,033,432...90,072,506
Ensembl chr17:90,033,539...90,071,408
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Pdss2
decaprenyl diphosphate synthase subunit 2
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 3
OMIM ClinVar
PMID:17186472 PMID:17374725 PMID:20495179 PMID:25741868 PMID:28492532
NCBI chr20:47,966,513...48,192,747
Ensembl chr20:47,966,583...48,192,743
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Cdc42bpa
CDC42 binding protein kinase alpha
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4
ClinVar
PMID:24164873
NCBI chr13:98,231,326...98,447,762
Ensembl chr13:98,231,326...98,447,762
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Coq8a
coenzyme Q8A
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 ClinVar Annotator: match by OMIM:612016 ClinVar Annotator: match by null
OMIM ClinVar
PMID:12682339 PMID:15326254 PMID:18319072 PMID:18319074 PMID:18414213 PMID:20495179 PMID:22036850 PMID:24033266 PMID:24164873 PMID:24218524 PMID:25131622 PMID:25280894 PMID:25356970 PMID:25498144 PMID:25558065 PMID:25741868 PMID:26467025 PMID:26640698 PMID:27106809 PMID:28125198 PMID:28492532
NCBI chr13:98,451,629...98,480,438
Ensembl chr13:98,451,637...98,480,419
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Coq9
coenzyme Q9
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 5 ClinVar Annotator: match by OMIM:614654
OMIM ClinVar
PMID:19375058 PMID:20495179 PMID:20689595 PMID:22490322 PMID:23255162 PMID:25741868 PMID:25802402 PMID:26081641 PMID:28492532 PMID:28736527 PMID:29255295 PMID:30482867
NCBI chr19:10,583,855...10,596,848
Ensembl chr19:10,583,857...10,596,851
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Coq6
coenzyme Q6 monooxygenase
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 6 ClinVar Annotator: match by OMIM:614650
OMIM ClinVar
PMID:21540551 PMID:24140869 PMID:25741868
NCBI chr 6:108,076,393...108,087,782
Ensembl chr 6:108,076,306...108,087,696
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Entpd5
ectonucleoside triphosphate diphosphohydrolase 5
ISO
ClinVar Annotator: match by This custom term has been created by RGD curators. ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 6
ClinVar
PMID:21540551 PMID:24140869 PMID:25741868
NCBI chr 6:108,087,677...108,123,811
Ensembl chr 6:108,087,418...108,120,579
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Fam161b
FAM161 centrosomal protein B
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 6
ClinVar
PMID:25741868
NCBI chr 6:108,060,019...108,076,303
Ensembl chr 6:108,061,063...108,076,186
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Cercam
cerebral endothelial cell adhesion molecule
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7
ClinVar
PMID:28492532
NCBI chr 3:8,421,116...8,444,743
Ensembl chr 3:8,430,829...8,444,851
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Ciz1
CDKN1A interacting zinc finger protein 1
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7
ClinVar
PMID:28492532
NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
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Coq4
coenzyme Q4
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7
OMIM ClinVar
PMID:25658047 PMID:25741868 PMID:26185144 PMID:26795593 PMID:27513193 PMID:28492532 PMID:28540186 PMID:32860008
NCBI chr 3:8,349,386...8,357,719
Ensembl chr 3:8,349,185...8,357,871
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Dnm1
dynamin 1
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7
ClinVar
PMID:28492532
NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
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Gle1
GLE1 RNA export mediator
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7
ClinVar
PMID:28492532
NCBI chr 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
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Golga2
golgin A2
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7
ClinVar
PMID:28492532
NCBI chr 3:11,317,328...11,337,569
Ensembl chr 3:11,317,183...11,336,458
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Lcn2
lipocalin 2
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7
ClinVar
PMID:28492532
NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
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Mir2964
microRNA 2964
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7
ClinVar
PMID:28492532
NCBI chr 3:8,407,427...8,407,526
Ensembl chr 3:8,407,427...8,407,526
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Odf2
outer dense fiber of sperm tails 2
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7
ClinVar
PMID:28492532
NCBI chr 3:8,449,733...8,495,764
Ensembl chr 3:8,450,275...8,496,008
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RGD1561113
similar to Hypothetical UPF0184 protein C9orf16 homolog
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7
ClinVar
PMID:28492532
NCBI chr 3:11,408,076...11,410,907
Ensembl chr 3:11,408,348...11,410,732
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Slc27a4
solute carrier family 27 member 4
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7
ClinVar
PMID:28492532
NCBI chr 3:8,363,937...8,376,858
Ensembl chr 3:8,363,937...8,376,858
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Swi5
SWI5 homologous recombination repair protein
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7
ClinVar
PMID:28492532
NCBI chr 3:11,307,981...11,317,049
Ensembl chr 3:11,307,981...11,317,049
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Trub2
TruB pseudouridine synthase family member 2
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7
ClinVar
PMID:28492532
NCBI chr 3:8,338,479...8,348,746
Ensembl chr 3:8,338,484...8,348,746
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Urm1
ubiquitin related modifier 1
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7
ClinVar
PMID:28492532
NCBI chr 3:8,389,024...8,405,868
Ensembl chr 3:8,389,024...8,405,868
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Coq7
coenzyme Q7, hydroxylase
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 8
ClinVar OMIM
PMID:25741868 PMID:26084283 PMID:31240163 PMID:32963807
NCBI chr 1:188,176,060...188,190,874
Ensembl chr 1:188,174,874...188,190,860
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Coq5
coenzyme Q5, methyltransferase
ISO
ClinVar Annotator: match by term: COENZYME Q10 DEFICIENCY, PRIMARY, 9
OMIM ClinVar
PMID:29044765
NCBI chr12:47,078,753...47,095,438
Ensembl chr12:47,078,753...47,095,438
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