GENE - TERM ANNOTATION REPORT

CRRD ID: 1308245
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Coq8a
Name: coenzyme Q8A
Acc ID: DOID:0070241
Term: primary coenzyme Q10 deficiency 4
Definition: A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of ADCK3 on chromosome 1q42.13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/18319072
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISOCRRD:13438627240710OMIM  
 ISOCRRD:13438628554872ClinVarClinVar Annotator: match by null

PMID:18319074, PMID:20495179
 ISOCRRD:13438628554872ClinVarClinVar Annotator: match by OMIM:612016

 
 ISOCRRD:13438628554872ClinVarClinVar Annotator: match by OMIM:612016

PMID:12682339, PMID:18319074, PMID:20495179
 ISOCRRD:13438628554872ClinVarClinVar Annotator: match by OMIM:612016

PMID:15326254, PMID:18319072
 ISOCRRD:13438628554872ClinVarClinVar Annotator: match by OMIM:612016

PMID:18319072
 ISOCRRD:13438628554872ClinVarClinVar Annotator: match by OMIM:612016

PMID:18319074
 ISOCRRD:13438628554872ClinVarClinVar Annotator: match by OMIM:612016

PMID:25741868
 ISOCRRD:13438628554872ClinVarClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4

PMID:18319074, PMID:25741868
 ISOCRRD:13438628554872ClinVarClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4

PMID:22036850, PMID:24164873, PMID:25741868, PMID:26640698
 ISOCRRD:13438628554872ClinVarClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4

PMID:24164873
 ISOCRRD:13438628554872ClinVarClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4

PMID:24218524, PMID:25326637, PMID:26467025
 ISOCRRD:13438628554872ClinVarClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4

PMID:25131622, PMID:25280894, PMID:25356970
 ISOCRRD:13438628554872ClinVarClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4

PMID:25741868, PMID:26467025
 ISOCRRD:13438628554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9

PMID:18319072, PMID:25741868
 ISOCRRD:13438628554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9

PMID:18319074, PMID:24033266
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.