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

4 Annotations Found.

An association has been curated linking Arx and Partington syndrome in Rattus norvegicus.        

  • 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 ARX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Partington syndrome  (DOID:14744)
  • 18 papers in RGD have been used to annotate Arx


    • An association has been curated linking Arx and Partington syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Curie A, etal., Orphanet J Rare Dis. 2014 Feb 14;9:25. doi: 10.1186/1750-1172-9-25.
  • The annotation has been inferred from sequence orthology with ARX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Curie A, etal., Orphanet J Rare Dis. 2014 Feb 14;9:25. doi: 10.1186/1750-1172-9-25.
  • 1 RGD objects have been annotated to Partington syndrome  (DOID:14744)
  • 18 papers in RGD have been used to annotate Arx
  • Curation Notes: DNA:duplication:exon:c.428-451dup (human)


    • An association has been curated linking Arx and Partington syndrome in Rattus norvegicus.        

  • 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 ARX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Partington syndrome  (DOID:14744)
  • 18 papers in RGD have been used to annotate Arx
  • Curation Notes: ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome
  • Original References(s): PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12640086 PMID:15151512 PMID:15200506 PMID:15850492 PMID:16078051 PMID:16235064 PMID:17331656 PMID:17480217 PMID:20506206 PMID:2080994 PMID:21204215 PMID:25741868 PMID:26029707 PMID:28492532 PMID:3177452 PMID:5008734 PMID:8826464


    • An association has been curated linking Arx and Partington syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with ARX (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Partington syndrome  (DOID:14744)
  • 18 papers in RGD have been used to annotate Arx
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • Go Back to source page   Continue to Ontology report