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: 3188
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Notch2
Name: notch receptor 2
Acc ID: DOID:2736
Term: Hajdu-Cheney syndrome
Definition: A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21378985 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/21378989 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9714016 "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)
Notch2 ISONOTCH2 (Homo sapiens)7240710OMIM  
Notch2 ISONOTCH2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:21378985 PMID:21378989
Notch2 ISONOTCH2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar Annotator: match by term: NOTCH2-related condition | ClinVar Annotator: match by term: SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROMEPMID:16199547 PMID:16773578 PMID:17159511 PMID:17576681 PMID:21378985 PMID:21378989 PMID:21681853 PMID:21712856 PMID:22209762 PMID:22891273 PMID:22891276 PMID:23389697 PMID:24728327 PMID:25741868 PMID:25741915 PMID:25741916 PMID:26184537 PMID:26627824 PMID:27312922 PMID:27592446 PMID:28492532 PMID:28512196 PMID:28566479 PMID:28776642 PMID:28938420 PMID:28941602 PMID:29100090 PMID:29566451 PMID:29698804 PMID:30143558 PMID:31130284 PMID:31595186 PMID:32164334 PMID:32341259 PMID:32368696 PMID:33448881 PMID:34332988 PMID:8723560 PMID:8755249 PMID:9536098
Notch2 ISSNotch2 (Mus musculus)13592920MouseDOOMIM:102500 
Go Back to source page   Continue to Ontology report