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 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
Advanced Search (OLGA)

GENE - TERM ANNOTATION REPORT

RGD ID: 12594980
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Esco2
Name: establishment of sister chromatid cohesion N-acetyltransferase 2
Acc ID: DOID:5325
Term: Roberts syndrome
Definition: A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ESCO2 gene on chromosome 8p21.1. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/roberts-syndrome "DO" "DO", PMID:20101700 "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)
Esco2 ISOESCO2 (Homo sapiens)7240710OMIM  
Esco2 ISOESCO2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ESCO2-related condition | ClinVar Annotator: match by term: Roberts syndrome | ClinVar Annotator: match by term: Roberts-SC phocomelia syndromePMID:15821733 PMID:16199547 PMID:16380922 PMID:1642282 PMID:16775838 PMID:18411254 PMID:18414213 PMID:19574259 PMID:19738907 PMID:20101700 PMID:20301332 PMID:24864645 PMID:25741868 PMID:26710928 PMID:28492532 PMID:30508616 PMID:30590172 PMID:31192177 PMID:31976146 PMID:32255174 PMID:32977150 PMID:3740099 PMID:495649
Esco2 ISOESCO2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ESCO2-related condition | ClinVar Annotator: match by term: Roberts syndrome | ClinVar Annotator: match by term: Roberts-SC phocomelia syndromePMID:15821733 PMID:16199547 PMID:16380922 PMID:1642282 PMID:16775838 PMID:18411254 PMID:18414213 PMID:19574259 PMID:20101700 PMID:20301332 PMID:24864645 PMID:25741868 PMID:26710928 PMID:28492532 PMID:30508616 PMID:30590172 PMID:31192177 PMID:31976146 PMID:3740099 PMID:495649
Go Back to source page   Continue to Ontology report