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

9 Annotations Found.

An association has been curated linking Ofd1 and orofaciodigital syndrome I in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Rakkolainen A, etal., J Med Genet. 2002 Apr;39(4):292-6.
  • The annotation has been inferred from sequence orthology with OFD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Rakkolainen A, etal., J Med Genet. 2002 Apr;39(4):292-6.
  • 2 RGD objects have been annotated to orofaciodigital syndrome I  (DOID:0060316)
  • 14 papers in RGD have been used to annotate Ofd1
  • Curation Notes: DNA:frameshift mutations, missense mutation, splice-site mutation:multiple


    • An association has been curated linking Ofd1 and orofaciodigital syndrome I in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Thauvin-Robinet C, etal., J Med Genet. 2006 Jan;43(1):54-61.
  • The annotation has been inferred from sequence orthology with OFD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Thauvin-Robinet C, etal., J Med Genet. 2006 Jan;43(1):54-61.
  • 2 RGD objects have been annotated to orofaciodigital syndrome I  (DOID:0060316)
  • 14 papers in RGD have been used to annotate Ofd1
  • Curation Notes: DNA:frameshift mutations, missense mutation, nonsense mutation:multiple


    • An association has been curated linking Ofd1 and orofaciodigital syndrome I in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Diz P, etal., Oral Dis. 2011 Sep;17(6):610-4. doi: 10.1111/j.1601-0825.2011.01823.x. Epub 2011 Jul 6.
  • The annotation has been inferred from sequence orthology with OFD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Diz P, etal., Oral Dis. 2011 Sep;17(6):610-4. doi: 10.1111/j.1601-0825.2011.01823.x. Epub 2011 Jul 6.
  • 2 RGD objects have been annotated to orofaciodigital syndrome I  (DOID:0060316)
  • 14 papers in RGD have been used to annotate Ofd1
  • Curation Notes: DNA:deletion:exon:c.2183delG (human)


    • An association has been curated linking Ofd1 and orofaciodigital syndrome I in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Romero M, etal., Cleft Palate Craniofac J. 2007 Nov;44(6):660-6. doi: 10.1597/06-225.1.
  • The annotation has been inferred from sequence orthology with OFD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Romero M, etal., Cleft Palate Craniofac J. 2007 Nov;44(6):660-6. doi: 10.1597/06-225.1.
  • 2 RGD objects have been annotated to orofaciodigital syndrome I  (DOID:0060316)
  • 14 papers in RGD have been used to annotate Ofd1
  • Curation Notes: DNA:missense mutation:exon:243C>G (H81Q) (human)


    • An association has been curated linking Ofd1 and orofaciodigital syndrome I 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 OFD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to orofaciodigital syndrome I  (DOID:0060316)
  • 14 papers in RGD have been used to annotate Ofd1


    • An association has been curated linking Ofd1 and orofaciodigital syndrome I in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Bisschoff IJ, etal., Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17.
  • The annotation has been inferred from sequence orthology with OFD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Bisschoff IJ, etal., Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17.
  • 2 RGD objects have been annotated to orofaciodigital syndrome I  (DOID:0060316)
  • 14 papers in RGD have been used to annotate Ofd1
  • Curation Notes: DNA:mutations:exon, intron:multiple


    • An association has been curated linking Ofd1 and orofaciodigital syndrome I 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 OFD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to orofaciodigital syndrome I  (DOID:0060316)
  • 14 papers in RGD have been used to annotate Ofd1
  • Curation Notes: ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I | ClinVar Annotator: match by term: Oral-facial-digital syndrome type 1 | ClinVar Annotator: match by term: Orofaciodigital syndrome I
  • Original References(s): PMID:11179005 PMID:11950863 PMID:12595504 PMID:16783569 PMID:17576681 PMID:18414213 PMID:18546297 PMID:23033313 PMID:24884629 PMID:25741868 PMID:26275793 PMID:26467025 PMID:26477546 PMID:27081566 PMID:28492532 PMID:28973083 PMID:34440443 PMID:9198060 PMID:9482645 PMID:9536098


    • An association has been curated linking Ofd1 and orofaciodigital syndrome I 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 Ofd1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to orofaciodigital syndrome I  (DOID:0060316)
  • 14 papers in RGD have been used to annotate Ofd1
  • Curation Notes: OMIM:311200


    • An association has been curated linking Ofd1 and orofaciodigital syndrome I 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 OFD1 (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to orofaciodigital syndrome I  (DOID:0060316)
  • 14 papers in RGD have been used to annotate Ofd1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • Go Back to source page   Continue to Ontology report