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 NPHP1 and Joubert syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:155796176 (Homo sapiens)
  • 489 RGD objects have been annotated to Joubert syndrome  (DOID:0050777)
  • 12 papers in RGD have been used to annotate NPHP1
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome and related disorders
  • Original References(s): PMID:28002029


    • An association has been curated linking NPHP1 and Joubert syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:243056696 (Homo sapiens)
  • 489 RGD objects have been annotated to Joubert syndrome  (DOID:0050777)
  • 12 papers in RGD have been used to annotate NPHP1
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome and related disorders
  • Original References(s): PMID:25741868 PMID:34090716


    • An association has been curated linking NPHP1 and Joubert syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13835363 (Homo sapiens)
  • 489 RGD objects have been annotated to Joubert syndrome  (DOID:0050777)
  • 12 papers in RGD have been used to annotate NPHP1
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome and related disorders
  • Original References(s): PMID:23559409 PMID:25741868 PMID:28492532


    • An association has been curated linking NPHP1 and Joubert syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11593759|RGD:155266460|RGD:38474488 (Homo sapiens) & RGD:11593759|RGD:155266460|RGD:38474488 (Homo sapiens) & RGD:11593759|RGD:155266460|RGD:38474488 (Homo sapiens)
  • 489 RGD objects have been annotated to Joubert syndrome  (DOID:0050777)
  • 12 papers in RGD have been used to annotate NPHP1
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome and related disorders
  • Original References(s): PMID:16199547 PMID:23559409 PMID:25741868 PMID:28492532


    • Go Back to source page   Continue to Ontology report