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

2 Annotations Found.

An association has been curated linking Pnpt1 and combined oxidative phosphorylation deficiency 13 in Chinchilla lanigera.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with PNPT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to combined oxidative phosphorylation deficiency 13  (DOID:0111467)
  • 2 papers in RGD have been used to annotate Pnpt1


    • An association has been curated linking Pnpt1 and combined oxidative phosphorylation deficiency 13 in Chinchilla lanigera.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with PNPT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to combined oxidative phosphorylation deficiency 13  (DOID:0111467)
  • 2 papers in RGD have been used to annotate Pnpt1
  • Curation Notes: ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13
  • Original References(s): PMID:11080643 PMID:16199547 PMID:23084291 PMID:24088041 PMID:25326635 PMID:25457163 PMID:25741868 PMID:26633545 PMID:27759031 PMID:28492532 PMID:28594066 PMID:28645153 PMID:29987015 PMID:30046113 PMID:30244537 PMID:30831263 PMID:31752325 PMID:32020600 PMID:32313153 PMID:33158637 PMID:33199448 PMID:33812062


    • Go Back to source page   Continue to Ontology report