ONTOLOGY REPORT - ANNOTATIONS


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;   Coq10 Deficiency, Primary;   coenzyme Q 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
 alt_id: RDO:0013378
 xref: GARD:10423;   OMIM:PS607426
For additional species annotation, visit the Alliance of Genome Resources.


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coenzyme Q10 deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abi1 abl-interactor 1 JBrowse link 17 89,951,662 90,033,334 RGD:8554872
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:8554872
G Ciapin1 cytokine induced apoptosis inhibitor 1 JBrowse link 19 10,596,923 10,612,414 RGD:8554872
G Coq2 coenzyme Q2, polyprenyltransferase JBrowse link 14 10,581,102 10,601,093 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:8554872
G Coq9 coenzyme Q9 JBrowse link 19 10,583,855 10,596,848 RGD:13592920
RGD:8554872
G Pdss1 decaprenyl diphosphate synthase subunit 1 JBrowse link 17 90,033,432 90,072,506 RGD:8554872
G Pdss2 decaprenyl diphosphate synthase subunit 2 JBrowse link 20 47,966,513 48,192,747 RGD:13592920
RGD:8554872
primary coenzyme Q10 deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:8554872
G Coq2 coenzyme Q2, polyprenyltransferase JBrowse link 14 10,581,102 10,601,093 RGD:7240710
RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:11554173
RGD:8554872
primary coenzyme Q10 deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdss1 decaprenyl diphosphate synthase subunit 1 JBrowse link 17 90,033,432 90,072,506 RGD:7240710
RGD:8554872
primary coenzyme Q10 deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdss2 decaprenyl diphosphate synthase subunit 2 JBrowse link 20 47,966,513 48,192,747 RGD:7240710
RGD:8554872
primary coenzyme Q10 deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc42bpa CDC42 binding protein kinase alpha JBrowse link 13 98,231,326 98,447,762 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:7240710
RGD:8554872
primary coenzyme Q10 deficiency 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq9 coenzyme Q9 JBrowse link 19 10,583,855 10,596,848 RGD:7240710
RGD:8554872
primary coenzyme Q10 deficiency 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq6 coenzyme Q6 monooxygenase JBrowse link 6 108,076,393 108,087,782 RGD:7240710
RGD:8554872
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 JBrowse link 6 108,087,677 108,123,811 RGD:8554872
primary coenzyme Q10 deficiency 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cercam cerebral endothelial cell adhesion molecule JBrowse link 3 8,421,116 8,444,743 RGD:8554872
G Ciz1 CDKN1A interacting zinc finger protein 1 JBrowse link 3 11,392,046 11,409,218 RGD:8554872
G Coq4 coenzyme Q4 JBrowse link 3 8,349,386 8,357,719 RGD:7240710
RGD:8554872
G Dnm1 dynamin 1 JBrowse link 3 11,338,081 11,382,043 RGD:8554872
G Gle1 GLE1 RNA export mediator JBrowse link 3 8,498,098 8,530,218 RGD:8554872
G Golga2 golgin A2 JBrowse link 3 11,317,328 11,337,569 RGD:8554872
G Lcn2 lipocalin 2 JBrowse link 3 11,414,189 11,417,534 RGD:8554872
G Mir2964 microRNA 2964 JBrowse link 3 8,407,427 8,407,526 RGD:8554872
G Odf2 outer dense fiber of sperm tails 2 JBrowse link 3 8,449,733 8,495,764 RGD:8554872
G RGD1561113 similar to Hypothetical UPF0184 protein C9orf16 homolog JBrowse link 3 11,408,076 11,410,907 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
G Slc19a3 solute carrier family 19 member 3 JBrowse link 9 88,762,775 88,828,553 RGD:8554872
G Slc27a4 solute carrier family 27 member 4 JBrowse link 3 8,363,937 8,376,858 RGD:8554872
G Swi5 SWI5 homologous recombination repair protein JBrowse link 3 11,307,981 11,317,049 RGD:8554872
G Trub2 TruB pseudouridine synthase family member 2 JBrowse link 3 8,338,479 8,348,746 RGD:8554872
G Urm1 ubiquitin related modifier 1 JBrowse link 3 8,389,024 8,405,868 RGD:8554872
primary coenzyme Q10 deficiency 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq7 coenzyme Q7, hydroxylase JBrowse link 1 188,176,060 188,190,874 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    Pathological Conditions, Signs and Symptoms 7362
      Pathologic Processes 4865
        Muscle Weakness 79
          coenzyme Q10 deficiency disease 28
            primary coenzyme Q10 deficiency 1 3
            primary coenzyme Q10 deficiency 2 1
            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 16
            primary coenzyme Q10 deficiency 8 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            movement disease 993
              Dyskinesias 713
                Ataxia 304
                  coenzyme Q10 deficiency disease 28
                    primary coenzyme Q10 deficiency 1 3
                    primary coenzyme Q10 deficiency 2 1
                    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 16
                    primary coenzyme Q10 deficiency 8 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.