Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

RGD ID: 2381
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Coq7
Name: coenzyme Q7, hydroxylase
Acc ID: DOID:0070245
Term: primary coenzyme Q10 deficiency 8
Definition: A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/26084283 "DO" "DO"
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Coq7 ISOCOQ7 (Homo sapiens)7240710OMIM  
Coq7 ISOCOQ7 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Coq7 ISOCOQ7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Primary coenzyme Q10 deficiency 8PMID:25741868 PMID:26084283 PMID:28409910 PMID:28492532 PMID:30369941 PMID:31240163 PMID:32963807 PMID:33215859 PMID:35094435 PMID:35782625 PMID:36454683 PMID:36758993 PMID:37077559 PMID:37170631 PMID:37392700
Go Back to source page   Continue to Ontology report