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

3 Annotations Found.

An association has been curated linking Nkx2-1 and Benign Familial Chorea in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Breedveld GJ, etal., Hum Mol Genet. 2002 Apr 15;11(8):971-9.
  • The annotation has been inferred from sequence orthology with NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Breedveld GJ, etal., Hum Mol Genet. 2002 Apr 15;11(8):971-9.
  • 1 RGD objects have been annotated to Benign Familial Chorea  (DOID:9003905)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human)


    • An association has been curated linking Nkx2-1 and Benign Familial Chorea in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Konishi T, etal., J Neurol. 2013 Jan;260(1):207-13. doi: 10.1007/s00415-012-6618-z. Epub 2012 Jul 24.
  • The annotation has been inferred from sequence orthology with NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Konishi T, etal., J Neurol. 2013 Jan;260(1):207-13. doi: 10.1007/s00415-012-6618-z. Epub 2012 Jul 24.
  • 1 RGD objects have been annotated to Benign Familial Chorea  (DOID:9003905)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: DNA:splice-site mutation:intron:c.464-9C>A (human)


    • An association has been curated linking Nkx2-1 and Benign Familial Chorea in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ferrara AM, etal., Thyroid. 2008 Sep;18(9):1005-9. doi: 10.1089/thy.2008.0085.
  • The annotation has been inferred from sequence orthology with NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Ferrara AM, etal., Thyroid. 2008 Sep;18(9):1005-9. doi: 10.1089/thy.2008.0085.
  • 1 RGD objects have been annotated to Benign Familial Chorea  (DOID:9003905)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human)


    • Go Back to source page   Continue to Ontology report