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GENE - TERM ANNOTATION REPORT

CRRD ID: 1304638
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Coq4
Name: coenzyme Q4
Acc ID: DOID:0070244
Term: primary coenzyme Q10 deficiency 7
Definition: An autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. (OMIM)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25658047
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)
 ISORGD:13121927240710OMIM  
 ISORGD:13121928554872ClinVarClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7

PMID:16116126, PMID:17332895, PMID:17485248, PMID:18474229, PMID:18579827, PMID:21540551, PMID:21844807, PMID:22368301, PMID:24270420, PMID:25126048, PMID:25658047, PMID:26185144, PMID:26795593, PMID:27513193, PMID:28492532, PMID:28540186
 ISORGD:13121928554872ClinVarClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7

PMID:16116126, PMID:17332895, PMID:17485248, PMID:18474229, PMID:18579827, PMID:21540551, PMID:21844807, PMID:22368301, PMID:24270420, PMID:25126048, PMID:25658047, PMID:26185144, PMID:28540186
 ISORGD:13121928554872ClinVarClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7

PMID:25658047
 ISORGD:13121928554872ClinVarClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7

PMID:25658047, PMID:26185144, PMID:28492532
 ISORGD:13121928554872ClinVarClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7

PMID:25658047, PMID:28492532
 ISORGD:13121928554872ClinVarClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7

PMID:25741868
 ISORGD:13121928554872ClinVarClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7

PMID:28492532
 ISORGD:13121928554872ClinVarClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7

PMID:28492532, PMID:28540186
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.