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

RGD ID: 14191035
Species: Sus scrofa
RGD Object: Gene
Symbol: RUNX2
Name: RUNX family transcription factor 2
Acc ID: DOID:13994
Term: cleidocranial dysplasia
Definition: An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Cleidocranial_dysostosis "DO" "DO", http://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia "DO" "DO", http://www.healthline.com/galecontent/cleidocranial-dysplasia-1 "DO" "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001589.htm "DO" "DO", https://www.faces-cranio.org/cleidocranial "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)
RUNX2 ISORUNX2 (Homo sapiens)7240710OMIM  
RUNX2 ISORUNX2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactylyPMID:10521292 PMID:10545612 PMID:10980549 PMID:11321595 PMID:11768584 PMID:11857736 PMID:12081718 PMID:12132307 PMID:12196916 PMID:12424590 PMID:15301373 PMID:15952089 PMID:16199547 PMID:16221346 PMID:19515746 PMID:19767586 PMID:20648631 PMID:20702542 PMID:21734816 PMID:22023169 PMID:23290074 PMID:24138303 PMID:24222232 PMID:24634175 PMID:25741868 PMID:26279653 PMID:26380986 PMID:27993330 PMID:28056872 PMID:28492532 PMID:28505335 PMID:28738062 PMID:29758562 PMID:29891876 PMID:30391578 PMID:31548836 PMID:32360898 PMID:33987976 PMID:9182765 PMID:9207800
Go Back to source page   Continue to Ontology report