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 Porcn and focal dermal hypoplasia 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 PORCN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to focal dermal hypoplasia  (DOID:2120)
  • 7 papers in RGD have been used to annotate Porcn


    • An association has been curated linking Porcn and focal dermal hypoplasia 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 PORCN (Homo sapiens) [(EXP) inferred from experiment]
  • 4 RGD objects have been annotated to focal dermal hypoplasia  (DOID:2120)
  • 7 papers in RGD have been used to annotate Porcn
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:17546030 PMID:17546031


    • An association has been curated linking Porcn and focal dermal hypoplasia 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 PORCN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to focal dermal hypoplasia  (DOID:2120)
  • 7 papers in RGD have been used to annotate Porcn
  • Curation Notes: ClinVar Annotator: match by term: Focal dermal hypoplasia | ClinVar Annotator: match by term: PORCN-related condition
  • Original References(s): PMID:17546030 PMID:17546031 PMID:18325042 PMID:19277062 PMID:19309688 PMID:19586929 PMID:19863546 PMID:21484999 PMID:22888000 PMID:25640089 PMID:25741868 PMID:28492532 PMID:30022487 PMID:32141364


    • An association has been curated linking Porcn and focal dermal hypoplasia in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Porcn (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to focal dermal hypoplasia  (DOID:2120)
  • 7 papers in RGD have been used to annotate Porcn
  • Curation Notes: OMIM:305600


    • Go Back to source page   Continue to Ontology report