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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:25741868 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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 More... NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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 chr19:10,166,948...10,179,976
Ensembl chr19:10,166,951...10,179,949
JBrowse link
G Pdss1 decaprenyl diphosphate synthase subunit 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar PMID:25741868 PMID:28492532 NCBI chr17:85,059,953...85,098,739
Ensembl chr17:85,060,106...85,098,730
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 chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708
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 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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 More... NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891
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 chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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 chr17:85,098,837...85,179,829
Ensembl chr17:85,098,550...85,179,792
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:25741868 PMID:28492532 NCBI chr17:85,059,953...85,098,739
Ensembl chr17:85,060,106...85,098,730
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 chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708
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 chr13:91,683,775...91,903,732
Ensembl chr13:91,684,007...91,903,732
JBrowse link
G 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 More... NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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 More... NCBI chr19:10,166,948...10,179,976
Ensembl chr19:10,166,951...10,179,949
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 PMID:28117207 PMID:28492532 More... NCBI chr 6:104,007,814...104,019,888
Ensembl chr 6:104,007,872...104,024,657
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 PMID:28117207 PMID:28492532 More... NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530
JBrowse link
G Fam161b FAM161 centrosomal protein B ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 6 ClinVar PMID:25741868 NCBI chr 6:103,990,603...104,007,754
Ensembl chr 6:103,992,170...104,018,776
JBrowse link
primary coenzyme Q10 deficiency 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
JBrowse link
G Bbln bublin coiled coil protein ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,674,577...15,677,393
Ensembl chr 3:15,674,580...15,677,374
JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410
JBrowse link
G Cercam cerebral endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,118,150...13,155,960
Ensembl chr 3:13,142,107...13,155,956
JBrowse link
G Cfap157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:16,066,521...16,073,504
Ensembl chr 3:16,066,521...16,073,495
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,658,479...15,675,716
Ensembl chr 3:15,658,539...15,673,762
JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 OMIM
ClinVar
PMID:22368301 PMID:25658047 PMID:25741868 PMID:26185144 PMID:26795593 More... NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,855,952...15,858,867 JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Fam102a family with sequence similarity 102, member A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,823,147...15,854,651
Ensembl chr 3:15,823,144...15,854,643
JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
JBrowse link
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379
JBrowse link
G Golga2 golgin A2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,583,862...15,604,279
Ensembl chr 3:15,584,039...15,604,279
JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Mir2964 microRNA 2964 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,118,623...13,118,722
Ensembl chr 3:13,118,623...13,118,722
JBrowse link
G Naif1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,742,337...15,747,672
Ensembl chr 3:15,742,919...15,747,669
JBrowse link
G Odf2 outer dense fiber of sperm tails 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,160,981...13,207,223
Ensembl chr 3:13,161,494...13,206,985
JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,860,493...15,869,264
Ensembl chr 3:15,855,946...15,869,165
JBrowse link
G Ptges2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,690,501...15,697,688
Ensembl chr 3:15,690,501...15,697,688
JBrowse link
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:16,064,867...16,071,098
Ensembl chr 3:16,064,880...16,070,648
JBrowse link
G Sh2d3c SH2 domain containing 3C ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:16,010,622...16,046,491
Ensembl chr 3:16,010,625...16,046,484
JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,708,702...15,742,195
Ensembl chr 3:15,708,703...15,742,216
JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,872,230...15,885,250
Ensembl chr 3:15,872,532...15,885,243
JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,894,278...15,907,502
Ensembl chr 3:15,885,968...15,907,496
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Swi5 SWI5 homologous recombination repair protein ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,574,687...15,583,760
Ensembl chr 3:15,564,715...15,583,805
JBrowse link
G Tor2a torsin family 2, member A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:16,048,566...16,053,198
Ensembl chr 3:16,048,549...16,052,634
JBrowse link
G Trub2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,049,220...13,059,836
Ensembl chr 3:13,033,745...13,059,930
JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:16,048,484...16,064,598
Ensembl chr 3:16,048,565...16,064,547
JBrowse link
G Urm1 ubiquitin related modifier 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,100,340...13,117,064
Ensembl chr 3:13,092,200...13,117,642
Ensembl chr 3:13,092,200...13,117,642
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:28492532 PMID:31240163 PMID:32963807 NCBI chr 1:172,836,359...172,851,173
Ensembl chr 1:172,835,188...172,851,158
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 ClinVar Annotator: match by term: COENZYME Q10 DEFICIENCY, PRIMARY, 9 OMIM
ClinVar
PMID:29044765 NCBI chr12:41,316,922...41,333,855
Ensembl chr12:41,316,748...41,333,848
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Pathological Conditions, Signs and Symptoms 10388
      Pathologic Processes 6861
        Muscle Weakness 97
          coenzyme Q10 deficiency disease 46
            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 3
            primary coenzyme Q10 deficiency 7 33
            primary coenzyme Q10 deficiency 8 1
            primary coenzyme Q10 deficiency 9 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          brain disease 9870
            movement disease 1417
              Dyskinesias 1079
                Ataxia 510
                  coenzyme Q10 deficiency disease 46
                    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 3
                    primary coenzyme Q10 deficiency 7 33
                    primary coenzyme Q10 deficiency 8 1
                    primary coenzyme Q10 deficiency 9 1
paths to the root