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 Nalcn and congenital limbs-face contractures-hypotonia-developmental delay 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 NALCN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital limbs-face contractures-hypotonia-developmental delay syndrome  (DOID:0081048)
  • 9 papers in RGD have been used to annotate Nalcn


    • An association has been curated linking Nalcn and congenital limbs-face contractures-hypotonia-developmental delay 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 NALCN (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to congenital limbs-face contractures-hypotonia-developmental delay syndrome  (DOID:0081048)
  • 9 papers in RGD have been used to annotate Nalcn
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Nalcn and congenital limbs-face contractures-hypotonia-developmental delay 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 NALCN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital limbs-face contractures-hypotonia-developmental delay syndrome  (DOID:0081048)
  • 9 papers in RGD have been used to annotate Nalcn
  • Curation Notes: ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay
  • Original References(s): PMID:23749988 PMID:24075186 PMID:25683120 PMID:25741868 PMID:25741916 PMID:25864427 PMID:26763878 PMID:26938784 PMID:27473021 PMID:27633718 PMID:27681385 PMID:28327206 PMID:28333917 PMID:28454995 PMID:28492532 PMID:30167850 PMID:32618095 PMID:32668698 PMID:32698188


    • Go Back to source page   Continue to Ontology report