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: 1310013
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ndufs7
Name: NADH:ubiquinone oxidoreductase core subunit S7
Acc ID: DOID:3652
Term: Leigh disease
Definition: A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Leigh%27s_disease "DO" "DO", http://ghr.nlm.nih.gov/condition/leigh-syndrome "DO" "DO", https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/ "DO" "DO", https://rarediseases.org/rare-diseases/leigh-syndrome/ "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)
Ndufs7 ISONDUFS7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathyPMID:10330338 PMID:10360771 PMID:11004438 PMID:11978605 PMID:12468279 PMID:15269216 PMID:17604671 PMID:20301745 PMID:25741868 PMID:26024641 PMID:28492532 PMID:30369941
Go Back to source page   Continue to Ontology report