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

3 Annotations Found.

An association has been curated linking Gjb4 and erythrokeratodermia variabilis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Sbidian E, etal., Acta Derm Venereol. 2013 Mar 27;93(2):193-5. doi: 10.2340/00015555-1436.
  • The annotation has been inferred from sequence orthology with GJB4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Sbidian E, etal., Acta Derm Venereol. 2013 Mar 27;93(2):193-5. doi: 10.2340/00015555-1436.
  • 10 RGD objects have been annotated to erythrokeratodermia variabilis  (DOID:0050467)
  • 13 papers in RGD have been used to annotate Gjb4
  • Curation Notes: DNA:missense mutation:exon:p.C86S (c.256T>A) (human)


    • An association has been curated linking Gjb4 and erythrokeratodermia variabilis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Macari F, etal., Am J Hum Genet. 2000 Nov;67(5):1296-301. Epub 2000 Oct 3.
  • The annotation has been inferred from sequence orthology with GJB4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Macari F, etal., Am J Hum Genet. 2000 Nov;67(5):1296-301. Epub 2000 Oct 3.
  • 10 RGD objects have been annotated to erythrokeratodermia variabilis  (DOID:0050467)
  • 13 papers in RGD have been used to annotate Gjb4
  • Curation Notes: DNA:missense mutation: :p.F137L (human)


    • An association has been curated linking Gjb4 and erythrokeratodermia variabilis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Richard G, etal., J Invest Dermatol. 2003 Apr;120(4):601-9.
  • The annotation has been inferred from sequence orthology with GJB4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Richard G, etal., J Invest Dermatol. 2003 Apr;120(4):601-9.
  • 10 RGD objects have been annotated to erythrokeratodermia variabilis  (DOID:0050467)
  • 13 papers in RGD have been used to annotate Gjb4
  • Curation Notes: DNA:missense mutations:exon:multiple


    • Go Back to source page   Continue to Ontology report