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

5 Annotations Found.

An association has been curated linking Enpp1 and Hypophosphatemic Rickets, Autosomal Recessive, 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Lorenz-Depiereux B, etal., Am J Hum Genet. 2010 Feb 12;86(2):267-72. Epub 2010 Feb 4.
  • The annotation has been inferred from sequence orthology with ENPP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Lorenz-Depiereux B, etal., Am J Hum Genet. 2010 Feb 12;86(2):267-72. Epub 2010 Feb 4.
  • 1 RGD objects have been annotated to Hypophosphatemic Rickets, Autosomal Recessive, 2  (DOID:9001198)
  • 42 papers in RGD have been used to annotate Enpp1


    • An association has been curated linking Enpp1 and Hypophosphatemic Rickets, Autosomal Recessive, 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Levy-Litan V, etal., Am J Hum Genet. 2010 Feb 12;86(2):273-8. Epub 2010 Feb 4.
  • The annotation has been inferred from sequence orthology with ENPP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Levy-Litan V, etal., Am J Hum Genet. 2010 Feb 12;86(2):273-8. Epub 2010 Feb 4.
  • 1 RGD objects have been annotated to Hypophosphatemic Rickets, Autosomal Recessive, 2  (DOID:9001198)
  • 42 papers in RGD have been used to annotate Enpp1
  • Curation Notes: DNA:missense mutation:cds:p.Y901S (human)


    • An association has been curated linking Enpp1 and Hypophosphatemic Rickets, Autosomal Recessive, 2 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 ENPP1 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Hypophosphatemic Rickets, Autosomal Recessive, 2  (DOID:9001198)
  • 42 papers in RGD have been used to annotate Enpp1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Enpp1 and Hypophosphatemic Rickets, Autosomal Recessive, 2 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 ENPP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Hypophosphatemic Rickets, Autosomal Recessive, 2  (DOID:9001198)
  • 42 papers in RGD have been used to annotate Enpp1
  • Curation Notes: ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2
  • Original References(s): PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:15677494 PMID:16025115 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:18950909 PMID:19229237 PMID:20016754 PMID:20137772 PMID:20137773 PMID:20981035 PMID:22539483 PMID:24033266 PMID:25741868 PMID:26857895 PMID:27238374 PMID:27467858 PMID:28377967 PMID:28492532 PMID:29244957 PMID:29979387 PMID:31826312 PMID:34609116 PMID:35738466 PMID:9662402


    • An association has been curated linking Enpp1 and Hypophosphatemic Rickets, Autosomal Recessive, 2 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 ENPP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Hypophosphatemic Rickets, Autosomal Recessive, 2  (DOID:9001198)
  • 42 papers in RGD have been used to annotate Enpp1
  • Qualifier: susceptibility


    • Go Back to source page   Continue to Ontology report