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

RGD ID: 735776
Species: Homo sapiens
RGD Object: Gene
Symbol: NOG
Name: noggin
Acc ID: DOID:0110975
Term: brachydactyly type B2
Definition: A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17668388 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
NOG IAGP 12801481RGDDNA:mutations:cds: 
NOGno_associationIAGP 12801483RGDDNA:mutation:cds:p.G92E(human) 
NOG IAGP 7240710OMIM  
NOG EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
NOG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly type B2PMID:25741868 PMID:28492532 PMID:29159868
NOG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly type B2PMID:25741868 PMID:28492532 PMID:34008892
NOG IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly type B2PMID:17668388
NOG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly type B2PMID:10080184 PMID:11160400 PMID:11545688 PMID:11857750 PMID:17668388 PMID:18440889 PMID:28492532 PMID:9851982
Go Back to source page   Continue to Ontology report