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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
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Accession:DOID:0050730 term browser 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.


show annotations for term's descendants           Sort by:
 
coenzyme Q10 deficiency disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
primary coenzyme Q10 deficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
primary coenzyme Q10 deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
primary coenzyme Q10 deficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
primary coenzyme Q10 deficiency 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9
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, PMID:30311386 NCBI chr13:98,451,629...98,480,438
Ensembl chr13:98,451,637...98,480,419
JBrowse link
primary coenzyme Q10 deficiency 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
primary coenzyme Q10 deficiency 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
primary coenzyme Q10 deficiency 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 OMIM
ClinVar
PMID:16116126, PMID:17332895, PMID:17485248, PMID:18474229, PMID:18579827, PMID:21540551, PMID:21844807, PMID:22368301, PMID:24270420, PMID:25126048, 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
primary coenzyme Q10 deficiency 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Primary Coenzyme Q10 Deficiency 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq5 coenzyme Q5, methyltransferase ISO OMIM NCBI chr12:47,078,753...47,095,438
Ensembl chr12:47,078,753...47,095,438
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Pathological Conditions, Signs and Symptoms 8739
      Pathologic Processes 6124
        Muscle Weakness 97
          coenzyme Q10 deficiency disease 26
            Primary Coenzyme Q10 Deficiency 9 1
            primary coenzyme Q10 deficiency 1 3
            primary coenzyme Q10 deficiency 2 2
            primary coenzyme Q10 deficiency 3 1
            primary coenzyme Q10 deficiency 4 2
            primary coenzyme Q10 deficiency 5 1
            primary coenzyme Q10 deficiency 6 2
            primary coenzyme Q10 deficiency 7 14
            primary coenzyme Q10 deficiency 8 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            movement disease 1159
              Dyskinesias 870
                Ataxia 395
                  coenzyme Q10 deficiency disease 26
                    Primary Coenzyme Q10 Deficiency 9 1
                    primary coenzyme Q10 deficiency 1 3
                    primary coenzyme Q10 deficiency 2 2
                    primary coenzyme Q10 deficiency 3 1
                    primary coenzyme Q10 deficiency 4 2
                    primary coenzyme Q10 deficiency 5 1
                    primary coenzyme Q10 deficiency 6 2
                    primary coenzyme Q10 deficiency 7 14
                    primary coenzyme Q10 deficiency 8 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.